Francis Collins

Q: What Schools Are Affiliated With Francis Collins

Francis Collins is affiliated with the following schools: Case Western Reserve University, University of California, Berkeley, Tel Aviv University, Harvard University, University of Michigan, University of North Carolina at Chapel Hill, University of Virginia, Albert Einstein College of Medicine, Karolinska Institute, Johns Hopkins University, Yale University, University of Oklahoma, Calvin University, Stanford University, University of California, Los Angeles, University of Washington

Francis Collins's AcademicInfluence.com Rankings

Biology

#87

World Rank

#156

Historical Rank

#48

USA Rank

Genetics

#15

World Rank

#29

Historical Rank

#11

USA Rank

biology Degrees

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Biology

Francis Collins's Degrees

Doctorate Medicine University of North Carolina at Chapel Hill

Why Is Francis Collins Influential?

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According to Wikipedia, Francis Sellers Collins is an American physician-geneticist who discovered the genes associated with a number of diseases and led the Human Genome Project. He is the former director of the National Institutes of Health in Bethesda, Maryland, from 17 August 2009 to 19 December 2021, serving under three presidents, and for over 12 years.

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Francis Collins's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Papers

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes (1993) (7826)
Finding the missing heritability of complex diseases (2009) (7749)
Comprehensive genomic characterization defines human glioblastoma genes and core pathways (2008) (5775)
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project (2007) (5196)
Initial sequencing and comparative analysis of the mouse genome. (2002) (4609)
A second generation human haplotype map of over 3.1 million SNPs (2007) (4567)
Erratum: Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA (1989) (4149)
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits (2009) (4004)
A new initiative on precision medicine. (2015) (3897)
Genetic studies of body mass index yield new insights for obesity biology (2015) (3549)
Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids (2010) (3485)
A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants (2007) (2840)
Mutations in the p53 gene occur in diverse human tumour types (1989) (2806)
A single ataxia telangiectasia gene with a product similar to PI-3 kinase. (1995) (2772)
Finishing the euchromatic sequence of the human genome (2004) (2770)
Discovery and Refinement of Loci Associated with Lipid Levels (2013) (2475)
The ENCODE (ENCyclopedia Of DNA Elements) Project (2004) (2194)
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (2010) (2087)
Genome sequence of the Brown Norway rat yields insights into mammalian evolution (2004) (2053)
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index (2010) (2011)
Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome (2003) (1969)
Hundreds of variants clustered in genomic loci and biological pathways affect human height (2010) (1961)
Positional cloning of the gene for multiple endocrine neoplasia-type 1. (1997) (1906)
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes (2008) (1882)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences (2002) (1846)
International network of cancer genome projects (2010) (1839)
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes (2012) (1839)
Defining the role of common variation in the genomic and biological architecture of adult human height (2014) (1805)
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (2010) (1801)
A vision for the future of genomics research (2003) (1746)
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation (2009) (1735)
Newly identified loci that influence lipid concentrations and risk of coronary artery disease (2008) (1626)
Atm-Deficient Mice: A Paradigm of Ataxia Telangiectasia (1996) (1485)
Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever (1997) (1450)
Common variants at 30 loci contribute to polygenic dyslipidemia (2009) (1380)
Replicating genotype–phenotype associations (2007) (1367)
Policy: NIH to balance sex in cell and animal studies (2014) (1293)
New genetic loci link adipose and insulin biology to body fat distribution (2014) (1227)
Genome-wide association study identifies eight loci associated with blood pressure (2009) (1225)
Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. (1991) (1193)
Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index (2010) (1179)
Variations on a Theme: Cataloging Human DNA Sequence Variation (1997) (1092)
Mutations in the human Jagged1 gene are responsible for Alagille syndrome (1997) (1087)
The Human Genome Project: Lessons from Large-Scale Biology (2003) (1054)
Policy: NIH plans to enhance reproducibility (2014) (1038)
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (1028)
Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson–Gilford progeria syndrome (2004) (1016)
The path to personalized medicine. (2010) (1008)
A HapMap harvest of insights into the genetics of common disease. (2008) (939)
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility (2014) (933)
The genetic architecture of type 2 diabetes (2016) (927)
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (2010) (897)
A DNA polymorphism discovery resource for research on human genetic variation. (1998) (869)
New goals for the U.S. Human Genome Project: 1998-2003. (1998) (838)
Cystic fibrosis: molecular biology and therapeutic implications. (1992) (829)
Major Susceptibility Locus for Prostate Cancer on Chromosome 1 Suggested by a Genome-Wide Search (1996) (801)
Common variants associated with plasma triglycerides and risk for coronary artery disease (2013) (767)
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways (2012) (758)
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance (2012) (756)
The NF1 locus encodes a protein functionally related to mammalian GAP and yeast IRA proteins (1990) (749)
Variants in MTNR1B influence fasting glucose levels (2009) (742)
Implications of the Human Genome Project for medical science. (2001) (728)
Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. (1993) (727)
Shattuck lecture--medical and societal consequences of the Human Genome Project. (1999) (713)
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging. (2006) (708)
The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals (1995) (664)
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (659)
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge (2010) (648)
Menin Interacts with the AP1 Transcription Factor JunD and Represses JunD-Activated Transcription (1999) (627)
Positional cloning moves from perditional to traditional (1995) (627)
Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients (1992) (621)
Evidence for a prostate cancer susceptibility locus on the X chromosome. (1998) (620)
Short interfering RNAs can induce unexpected and divergent changes in the levels of untargeted proteins in mammalian cells (2004) (614)
Genomic medicine--a primer. (2002) (608)
Chromatin stretch enhancer states drive cell-specific gene regulation and harbor human disease risk variants (2013) (577)
The Knockout Mouse Project (2004) (574)
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture (2013) (568)
Transforming Environmental Health Protection (2008) (567)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (2004) (565)
An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans (2017) (547)
The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species. (1995) (542)
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (2015) (532)
Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution (2009) (516)
Rare and low-frequency coding variants alter human adult height (2016) (511)
Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two–colour fluorescence analysis (1996) (509)
Human laminopathies: nuclei gone genetically awry (2006) (509)
Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS). (2005) (499)
Positional cloning: Let's not call it reverse anymore (1992) (487)
The family history--more important than ever. (2004) (483)
Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes. (1991) (482)
Type 2 (467)
Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. (1997) (461)
Reengineering Translational Science: The Time Is Right (2011) (454)
Menin, the product of the MEN1 gene, is a nuclear protein. (1998) (435)
A de novo Alu insertion results in neurofibromatosis type 1 (1991) (434)
A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. (2001) (434)
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk (2017) (428)
Genomic medicine--an updated primer. (2010) (426)
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure (2011) (424)
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. (1990) (421)
A Mouse for All Reasons (2007) (420)
The Genome Architecture of the Collaborative Cross Mouse Genetic Reference Population (2012) (416)
Somatic mutations in the BRCA1 gene in sporadic ovarian tumours (1995) (412)
A strategic approach to COVID-19 vaccine R&D (2020) (411)
FTO genotype is associated with phenotypic variability of body mass index (2012) (407)
Somatic mutation of the MEN1 gene in parathyroid tumours (1997) (401)
Common variants in the GDF5-UQCC region are associated with variation in human height (2008) (400)
Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays (1999) (399)
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer (1994) (398)
Characterization of the CHD family of proteins. (1997) (396)
cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. (1991) (388)
Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis (1993) (378)
Retroviral DNA Integration: Viral and Cellular Determinants of Target-Site Selection (2006) (376)
The Role of Science in Addressing the Opioid Crisis. (2017) (374)
Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. (2005) (370)
Evidence mounts on the disproportionate effect of COVID-19 on ethnic minorities (2020) (368)
TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1 (1995) (368)
Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits (2013) (365)
Meiotic arrest and aneuploidy in MLH3-deficient mice (2002) (363)
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome (2002) (354)
Genetic fine-mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci (2015) (349)
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals (2016) (347)
MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability (2000) (346)
The Mutant Form of Lamin A that Causes Hutchinson-Gilford Progeria Is a Biomarker of Cellular Aging in Human Skin (2007) (345)
MicroRNA target site polymorphisms and human disease. (2008) (337)
Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation With the Vascular Pathology of Aging (2010) (335)
Genetic analysis of complex traits in the emerging Collaborative Cross. (2011) (333)
Heritable Individual-Specific and Allele-Specific Chromatin Signatures in Humans (2010) (330)
Human polymorphism at microRNAs and microRNA target sites. (2013) (330)
Rapamycin Reverses Cellular Phenotypes and Enhances Mutant Protein Clearance in Hutchinson-Gilford Progeria Syndrome Cells (2011) (325)
Localization of the cystic fibrosis transmembrane conductance regulator in human bile duct epithelial cells. (1993) (320)
NIH Molecular Libraries Initiative (2004) (318)
A new five-year plan for the U.S. Human Genome Project. (1993) (316)
New models of collaboration in genome-wide association studies: the Genetic Association Information Network (2007) (313)
Failure of Embryonic Hematopoiesis andLethal Hemorrhages in Mouse Embryos Heterozygousfor a Knocked-In Leukemia Gene CBFB–MYH11 (1996) (311)
Somatic mutations of the MEN1 tumor suppressor gene in sporadic gastrinomas and insulinomas. (1997) (305)
Genes, environment and the value of prospective cohort studies (2006) (305)
Genetic counseling for families with inherited susceptibility to breast and ovarian cancer. (1993) (303)
Stretch-Enhancers Delineate Disease-Associated Regulatory Nodes in T Cells (2014) (297)
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes (2017) (294)
Welcome to the genomic era. (2003) (291)
Hereditary hemochromatosis: gene discovery and its implications for population-based screening. (1998) (290)
Impact of Type 2 Diabetes Susceptibility Variants on Quantitative Glycemic Traits Reveals Mechanistic Heterogeneity (2014) (287)
The mammalian gene collection. (1999) (284)
The NIH BRAIN Initiative (2013) (282)
What we do and don't know about 'race', 'ethnicity', genetics and health at the dawn of the genome era (2004) (281)
Correlated alterations in genome organization, histone methylation, and DNA–lamin A/C interactions in Hutchinson-Gilford progeria syndrome (2013) (280)
Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion (2012) (279)
New variant of SARS-CoV-2 in UK causes surge of COVID-19 (2021) (278)
Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes. (2004) (277)
The mammalian gene function resource: the international knockout mouse consortium (2012) (277)
Identification of the neurofibromatosis type 1 gene product. (1991) (272)
Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts. (2011) (267)
Association of Transcription Factor 7-Like 2 (TCF7L2) Variants With Type 2 Diabetes in a Finnish Sample (2006) (264)
Stratifying Type 2 Diabetes Cases by BMI Identifies Genetic Risk Variants in LAMA1 and Enrichment for Risk Variants in Lean Compared to Obese Cases (2012) (263)
Detailed Physiologic Characterization Reveals Diverse Mechanisms for Novel Genetic Loci Regulating Glucose and Insulin Metabolism in Humans (2010) (262)
Has the revolution arrived? (2010) (258)
A lamin A protein isoform overexpressed in Hutchinson–Gilford progeria syndrome interferes with mitosis in progeria and normal cells (2007) (258)
Phenotype and course of Hutchinson-Gilford progeria syndrome. (2008) (252)
National Institutes of Health addresses the science of diversity (2015) (251)
DNase-chip: a high-resolution method to identify DNase I hypersensitive sites using tiled microarrays (2006) (251)
Directional cloning of DNA fragments at a large distance from an initial probe: a circularization method. (1984) (249)
Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human gastrointestinal tract by in situ hybridization. (1994) (246)
Hyperglycemia and a Common Variant of GCKR Are Associated With the Levels of Eight Amino Acids in 9,369 Finnish Men (2012) (240)
Genetic Discrimination and Health Insurance: An Urgent Need for Reform (1995) (239)
Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung. (1997) (238)
Mutations of the MEN1 tumor suppressor gene in pituitary tumors. (1997) (235)
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension (2016) (234)
Of Mice and MEN1: Insulinomas in a Conditional Mouse Knockout (2003) (229)
The case for a US prospective cohort study of genes and environment (2004) (228)
Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. (1999) (228)
The tumor suppressor protein menin interacts with NF-κB proteins and inhibits NF-κB-mediated transactivation (2001) (223)
NIH plans to enhance reproducibility (2014) (221)
The HapMap and genome-wide association studies in diagnosis and therapy. (2009) (218)
Keeping pace with the times--the Genetic Information Nondiscrimination Act of 2008. (2008) (215)
Genome-Wide Analysis of Menin Binding Provides Insights into MEN1 Tumorigenesis (2006) (211)
The molecular genetics of human hemoglobin. (1984) (211)
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. (2010) (209)
MicroRNA‐27b is a regulatory hub in lipid metabolism and is altered in dyslipidemia (2012) (208)
Genome-Wide Screen for Metabolic Syndrome Susceptibility Loci Reveals Strong Lipid Gene Contribution But No Evidence for Common Genetic Basis for Clustering of Metabolic Syndrome Traits (2012) (204)
A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model (2008) (203)
Genetic evidence of assortative mating in humans (2017) (199)
A progeria mutation reveals functions for lamin A in nuclear assembly, architecture, and chromosome organization (2009) (199)
Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. (1990) (199)
Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8 (1990) (197)
Genome-Wide Association Identifies Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes (2011) (197)
A Major Environmental Cause of Death (2011) (197)
Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci. (2010) (196)
The Scientific Foundation for Personal Genomics: Recommendations from a National Institutes of Health–Centers for Disease Control and Prevention Multidisciplinary Workshop (2009) (196)
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity (2017) (193)
Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites. (2004) (191)
Association of 18 Confirmed Susceptibility Loci for Type 2 Diabetes With Indices of Insulin Release, Proinsulin Conversion, and Insulin Sensitivity in 5,327 Nondiabetic Finnish Men (2009) (187)
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study (2011) (185)
First FDA authorization for next-generation sequencer. (2013) (184)
A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33–34 (1994) (182)
BRCA1--lots of mutations, lots of dilemmas. (1996) (180)
Research as a part of public health emergency response. (2013) (179)
In Vivo Base Editing Rescues Hutchinson-Gilford Progeria Syndrome in Mice (2020) (178)
Patient-Centered Outcomes Research Institute: The Intersection of Science and Health Care (2010) (176)
Mapping the cancer genome (2007) (176)
The Language of Life: DNA and the Revolution in Personalized Medicine (2009) (173)
Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson–Gilford progeria syndrome (2006) (172)
Construction of a general human chromosome jumping library, with application to cystic fibrosis. (1987) (172)
The genome gets personal--almost. (2008) (171)
Multiple endocrine neoplasia type 1: clinical and genetic features of the hereditary endocrine neoplasias. (1999) (171)
Human Genome Project: Twenty-five years of big biology (2015) (171)
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. (2008) (170)
Phylogenetic footprinting reveals a nuclear protein which binds to silencer sequences in the human gamma and epsilon globin genes (1992) (169)
Mapping the cancer genome. Pinpointing the genes involved in cancer will help chart a new course across the complex landscape of human malignancies. (2007) (169)
A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity (1993) (169)
Substrate nucleotide-determined non-templated addition of adenine by Taq DNA polymerase: implications for PCR-based genotyping and cloning. (1996) (168)
Identifiability in Genomic Research (2007) (167)
The Huntington's disease candidate region exhibits many different haplotypes (1992) (165)
Allelic deletions on chromosome 11q13 in multiple endocrine neoplasia type 1-associated and sporadic gastrinomas and pancreatic endocrine tumors. (1997) (165)
The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage. (1997) (164)
Realizing the promise of genomics in biomedical research. (2005) (161)
Genetic regulatory signatures underlying islet gene expression and type 2 diabetes (2017) (160)
Rapid Scaling Up of Covid-19 Diagnostic Testing in the United States — The NIH RADx Initiative (2020) (159)
Atropos: specific, sensitive, and speedy trimming of sequencing reads (2017) (159)
PCORnet: turning a dream into reality (2014) (158)
The neurofibromatosis type 1 gene and its protein product, neurofibromin (1993) (156)
Early versus late parenteral nutrition in critically ill children. (2016) (154)
Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults (2017) (153)
Fixing problems with cell lines (2014) (153)
Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci. (1990) (153)
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (153)
The Trans-Ancestral Genomic Architecture of Glycemic Traits (2020) (151)
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits (2017) (149)
A point mutation in the Aγ-globin gene promoter in Greek hereditary persistence of fetal haemoglobin (1985) (148)
Molecular Pathology of the MEN1 Gene (2004) (148)
The peroxisome proliferator-activated receptor-gamma2 Pro12A1a variant: association with type 2 diabetes and trait differences. (2001) (147)
Genetic Information and the Workplace: Legislative Approaches and Policy Challenges (1997) (146)
Directional dominance on stature and cognition in diverse human populations (2015) (144)
Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma (2013) (144)
Principles of medical genetics (1990) (143)
Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines (1993) (141)
Mutational analysis using oligonucleotide microarrays (1999) (141)
High-risk drug practices tighten grip on London gay scene (2013) (139)
Direct sequencing of enzymatically amplified human genomic DNA. (1988) (138)
Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules (1993) (137)
Erratum: A DNA polymorphism discovery resource for research on human genetic variation (Genome Research (1998) 8 (1229-1231)) (1999) (137)
Allelic deletions on chromosome 11q13 in multiple tumors from individual MEN1 patients. (1996) (137)
Human leptin characterization (1996) (134)
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. (1998) (133)
Hyperparathyroidism in hereditary syndromes: special expressions and special managements. (2002) (133)
The completion of the Mammalian Gene Collection (MGC). (2009) (132)
Screening of 134 Single Nucleotide Polymorphisms (SNPs) Previously Associated With Type 2 Diabetes Replicates Association With 12 SNPs in Nine Genes (2007) (132)
Infantile myofibromatosis: Evidence for an autosomal‐dominant disorder (1984) (130)
Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter (2003) (130)
Race and ethnicity in the genome era: the complexity of the constructs. (2005) (130)
Physical mapping of a translocation breakpoint in neurofibromatosis. (1989) (129)
Menin molecular interactions: insights into normal functions and tumorigenesis. (2005) (129)
The 32-Kilodalton Subunit of Replication Protein A Interacts with Menin, the Product of the MEN1 Tumor Suppressor Gene (2003) (128)
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (127)
Pulmonary hypertension and cor pulmonale in the sickle hemoglobinopathies. (1982) (127)
Discovery of active enhancers through bidirectional expression of short transcripts (2011) (127)
A transcript map for the 2.8-Mb region containing the multiple endocrine neoplasia type 1 locus. (1997) (126)
Loss of heterozygosity at 11q13: analysis of pituitary tumors, lung carcinoids, lipomas, and other uncommon tumors in subjects with familial multiple endocrine neoplasia type 1. (1997) (126)
Approach to genotyping errors caused by nontemplated nucleotide addition by Taq DNA polymerase. (1995) (124)
Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome. (2006) (124)
Mechanisms of Cardiovascular Disease in Accelerated Aging Syndromes (2007) (123)
The use of racial, ethnic, and ancestral categories in human genetics research. (2005) (123)
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney (2017) (121)
Sharing and reporting the results of clinical trials. (2015) (121)
Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms (2014) (120)
Human BRCA1 inhibits growth in yeast: potential use in diagnostic testing. (1997) (119)
The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation. (2001) (117)
Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits. (2017) (117)
Familiality of Quantitative Metabolic Traits in Finnish Families with Non-Insulin-Dependent Diabetes mellitus (1999) (117)
Trans-Ethnic Fine-Mapping of Lipid Loci Identifies Population-Specific Signals and Allelic Heterogeneity That Increases the Trait Variance Explained (2013) (116)
Characteristics of prostate cancer in families potentially linked to the hereditary prostate cancer 1 (HPC1) locus (1997) (116)
Helping to End Addiction Over the Long-term: The Research Plan for the NIH HEAL Initiative. (2018) (116)
Statement on use of DNA testing for presymptomatic identification of cancer risk. National Advisory Council for Human Genome Research. (1994) (115)
Comprehensive Association Study of Type 2 Diabetes and Related Quantitative Traits With 222 Candidate Genes (2008) (114)
The Metabolic Syndrome in Men study: a resource for studies of metabolic and cardiovascular diseases (2017) (114)
Nuclear proteins that bind the human gamma-globin gene promoter: alterations in binding produced by point mutations associated with hereditary persistence of fetal hemoglobin (1988) (114)
Toward a New Era of Trust and Transparency in Clinical Trials. (2016) (114)
Mendelian Randomization Studies Do Not Support a Causal Role for Reduced Circulating Adiponectin Levels in Insulin Resistance and Type 2 Diabetes (2013) (113)
Early age at diagnosis in families providing evidence of linkage to the hereditary prostate cancer locus (HPC1) on chromosome 1. (1997) (113)
Transforming Evidence Generation to Support Health and Health Care Decisions. (2016) (111)
Methods for precise sizing, automated binning of alleles, and reduction of error rates in large-scale genotyping using fluorescently labeled dinucleotide markers. FUSION (Finland-U.S. Investigation of NIDDM Genetics) Study Group. (1997) (110)
Tissue-specific alternative splicing of TCF7L2 (2009) (110)
The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer (2004) (110)
Stable overexpression of MEN1 suppresses tumorigenicity of RAS (1999) (109)
High-throughput screening for evidence of association by using mass spectrometry genotyping on DNA pools (2002) (109)
Using science to improve the nation's health system: NIH's commitment to comparative effectiveness research. (2010) (109)
Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma (2003) (108)
CFTR activation: additive effects of stimulatory and inhibitory phosphorylation sites in the R domain. (1997) (108)
New Models for Large Prospective Studies: Is There a Better Way? (2012) (107)
Gaucher disease. Current issues in diagnosis and treatment. NIH Technology Assessment Panel on Gaucher Disease. (1996) (107)
Opportunities for Research and NIH (2010) (106)
Erratum: Initial sequencing and analysis of the human genome: International Human Genome Sequencing Consortium (Nature (2001) 409 (860-921)) (2001) (106)
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution (2011) (104)
Association of Ketone Body Levels With Hyperglycemia and Type 2 Diabetes in 9,398 Finnish Men (2013) (103)
Evolutionary sequence comparisons using high-density oligonucleotide arrays (1998) (101)
Precision medicine in 2030—seven ways to transform healthcare (2021) (100)
Uptake of PrEP for HIV slow among MSM (2014) (100)
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. (2018) (100)
Genetics moves into the medical mainstream. (2001) (99)
Germline BRCA1 mutations and loss of the wild-type allele in tumors from families with early onset breast and ovarian cancer. (1995) (99)
Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk (2011) (99)
Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus (2015) (98)
Parathyroid gland-specific deletion of the mouse Men1 gene results in parathyroid neoplasia and hypercalcemic hyperparathyroidism. (2003) (98)
Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation (2013) (97)
A New Partner for the International Knockout Mouse Consortium (2007) (97)
The genetic regulatory signature of type 2 diabetes in human skeletal muscle (2016) (96)
Characteristics of prostate cancer in families potentially linked to the hereditary prostate cancer 1 (HPC1) locus. (1998) (96)
G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene. (1984) (95)
Variation in the resistin gene is associated with obesity and insulin-related phenotypes in Finnish subjects (2004) (95)
Mining for therapeutic gold (2011) (94)
Preparing health professionals for the genetic revolution. (1997) (93)
Magnetic bead capture of expressed sequences encoded within large genomic segments (1993) (93)
Molecular characterization of 16p deletions associated with inversion 16 defines the critical fusion for leukemogenesis. (1995) (93)
SARS-CoV-2 infection induces beta cell transdifferentiation (2021) (92)
Identification of a splice site mutation (2789+5 G>A) associated with small amounts of normal CFTRmRNA and mild cystic fibrosis (1997) (91)
Strategies for mapping and cloning macroregions of mammalian genomes. (1987) (90)
Eight blood pressure loci identified by genome-wide association study of 34,433 people of European ancestry (2009) (88)
Evidence for a Prostate Cancer Susceptibility Locus on the X Chromosome (1999) (88)
Common Variants in Maturity-Onset Diabetes of the Young Genes Contribute to Risk of Type 2 Diabetes in Finns (2006) (87)
Finding the missing heritability of complex (2009) (87)
Genetic Analysis of Hematological Parameters in Incipient Lines of the Collaborative Cross (2012) (87)
Familial apple peel jejunal atresia: surgical, genetic, and radiographic aspects. (1987) (87)
Characterization of the cystic fibrosis transmembrane conductance regulator promoter region. Chromatin context and tissue-specificity. (1993) (86)
A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants (2017) (85)
Linkage disequilibrium between microsatellite markers extends beyond 1 cM on chromosome 20 in Finns. (2001) (85)
The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually has causes other than p27Kip1 mutations. (2007) (84)
Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR. (1993) (84)
Weaving a Richer Tapestry in Biomedical Science (2011) (84)
Statement from the National Institutes of Health workshop on population screening for the cystic fibrosis gene. (1990) (84)
Functional roles of the nucleotide-binding folds in the activation of the cystic fibrosis transmembrane conductance regulator. (1993) (84)
Precision Nutrition-the Answer to "What to Eat to Stay Healthy". (2020) (84)
Variation in resistin gene promoter not associated with polycystic ovary syndrome. (2003) (83)
Integrative analysis of gene expression, DNA methylation, physiological traits, and genetic variation in human skeletal muscle (2019) (83)
KVLQT1 mutations in three families with familial or sporadic long QT syndrome. (1996) (83)
A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14. (2004) (83)
Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease (2008) (81)
Biotinylation by antibody recognition - A method for proximity labeling (2017) (81)
Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns (2005) (81)
Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I (1994) (80)
A submicroscopic homozygous deletion at the D3S3 locus in a cell line isolated from a small cell lung carcinoma (1990) (80)
Environmental Biology and Human Disease (2007) (80)
Molecular biology of cystic fibrosis. (1993) (80)
Effects of 34 Risk Loci for Type 2 Diabetes or Hyperglycemia on Lipoprotein Subclasses and Their Composition in 6,580 Nondiabetic Finnish Men (2011) (79)
Causal Effect of Plasminogen Activator Inhibitor Type 1 on Coronary Heart Disease (2017) (78)
A common functional regulatory variant at a type 2 diabetes locus upregulates ARAP1 expression in the pancreatic beta cell. (2014) (78)
Cystic fibrosis transmembrane conductance regulator (CFTR) anion binding as a probe of the pore. (1998) (77)
Psychiatry in the genomics era. (2003) (77)
Single-cell ATAC-Seq in human pancreatic islets and deep learning upscaling of rare cells reveals cell-specific type 2 diabetes regulatory signatures (2019) (76)
Rapamycin activates autophagy in Hutchinson-Gilford progeria syndrome (2012) (76)
Accelerating COVID-19 Therapeutic Interventions and Vaccines (ACTIV): An Unprecedented Partnership for Unprecedented Times. (2020) (75)
Developing Health Workforce Capacity in Africa (2010) (75)
A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history (2005) (74)
Variation in three single nucleotide polymorphisms in the calpain-10 gene not associated with type 2 diabetes in a large Finnish cohort. (2002) (73)
Protein farnesylation inhibitors cause donut-shaped cell nuclei attributable to a centrosome separation defect (2011) (73)
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. (1989) (73)
The geneticist's approach to complex disease. (1996) (73)
Aiming High--Changing the Trajectory for Cancer. (2016) (72)
Tag SNP selection for Finnish individuals based on the CEPH Utah HapMap database (2006) (71)
The Human Genome Project (2001) (70)
How is the Human Genome Project doing, and what have we learned so far? (1995) (69)
Localization of a human T-cell-specific gene, RANTES (D17S136E), to chromosome 17q11.2-q12. (1990) (69)
Associations of autozygosity with a broad range of human phenotypes (2019) (68)
An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle. (1993) (68)
The human genome project and the future of medicine. (1993) (67)
PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION (2018) (67)
Merging and emerging cohorts: Necessary but not sufficient (2007) (66)
Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. (1995) (66)
A saturated map of common genetic variants associated with human height (2022) (65)
Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D (2020) (65)
Bringing the Common Rule into the 21st Century. (2015) (65)
Exceptional opportunities in medical science: a view from the National Institutes of Health. (2015) (65)
Localization of the multiple endocrine neoplasia type I (MEN1) gene based on tumor loss of heterozygosity analysis. (1997) (65)
Household Air Pollution in Low- and Middle-Income Countries: Health Risks and Research Priorities (2013) (64)
Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci (2016) (63)
Privacy in Genetics Research (1999) (63)
Two patients with ring chromosome 15 syndrome. (1988) (63)
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome (2017) (62)
The 21st Century Cures Act - A View from the NIH. (2017) (61)
An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids. (1992) (61)
Characterization of EZH1, a human homolog of Drosophila Enhancer of zeste near BRCA1. (1996) (61)
Eighteen new polymorphic markers in the multiple endocrine neoplasia type 1 (MEN1) region (1997) (60)
Enhanced high density oligonucleotide array-based sequence analysis using modified nucleoside triphosphates. (1998) (60)
Strain-dependent genomic factors affect allergen-induced airway hyperresponsiveness in mice. (2011) (60)
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape (2016) (59)
Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site-directed mutagenesis. (1993) (58)
Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1 (2004) (57)
A user's guide to the human genome (2002) (56)
Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region (1992) (56)
The von Recklinghausen neurofibromatosis region on chromosome 17--genetic and physical maps come into focus. (1989) (55)
Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (55)
A human gene (DDX10) encoding a putative DEAD-box RNA helicase at 11q22-q23. (1996) (55)
Re-sequencing Expands Our Understanding of the Phenotypic Impact of Variants at GWAS Loci (2014) (55)
Identification of the chimeric protein product of the CBFB‐MYH11 fusion gene in inv(16) leukemia cells (1996) (54)
CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state (1996) (53)
Distribution of menin-occupied regions in chromatin specifies a broad role of menin in transcriptional regulation. (2007) (53)
Identification and chromosomal localization of Atm, the mouse homolog of the ataxia-telangiectasia gene. (1996) (52)
Efforts escalate to protect homeless people from COVID-19 in UK (2020) (52)
The Next Phase of Human Gene-Therapy Oversight. (2018) (52)
Multiomic Profiling Identifies cis-Regulatory Networks Underlying Human Pancreatic β Cell Identity and Function (2019) (52)
Detection of heterozygous mutations in brca1 using high density oligonucleotide arrays and two-color fluorescence analysis (1997) (52)
Ethics. Identifiability in genomic research. (2007) (51)
DNA sequences in the promoter region of the NF1 gene are highly conserved between human and mouse. (1994) (51)
In support of SUPPORT--a view from the NIH. (2013) (49)
Affirming NIH’s commitment to addressing structural racism in the biomedical research enterprise (2021) (49)
Beta zero thalassemia caused by a base substitution that creates an alternative splice acceptor site in an intron. (1986) (49)
A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene. (1992) (49)
Expressed genes, Alu repeats and polymorphisms in cosmids sequenced from chromosome 4p16.3 (1992) (48)
The Glioma International Case-Control Study: A Report From the Genetic Epidemiology of Glioma International Consortium. (2015) (48)
Two frameshift mutations in the cystic fibrosis gene. (1991) (48)
Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol. (2015) (48)
Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). (1991) (48)
Genetic testing and psychology. New roles, new responsibilities. (2002) (48)
Microarrays and macroconsequences (1999) (47)
Fine-structure genetic mapping of human chromosomes using the polymerase chain reaction on single sperm: experimental design considerations. (1989) (46)
Island rescue PCR: a rapid and efficient method for isolating transcribed sequences from yeast artificial chromosomes and cosmids. (1994) (46)
NF1-related locus on chromosome 15. (1992) (46)
Identification of a new murine runt domain-containing gene, Cbfa3, and localization of the human homolog, CBFA3, to chromosome 1p35-pter. (1995) (46)
Genes, Environment, Health, and Disease: Facing up to Complexity (2007) (46)
South America prepares for the impact of COVID-19 (2020) (46)
Malignant melanotic schwannoma of the bronchus. (1987) (45)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2019) (45)
A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups. (1997) (45)
Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study (2017) (45)
Characterization of a MEN1 ortholog from Drosophila melanogaster. (2001) (44)
Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes. (2012) (44)
A 2.8-Mb clone contig of the multiple endocrine neoplasia type 1 (MEN1) region at 11q13. (1997) (44)
Evaluation of a variant in the transcription factor 7‐like 2 (TCF7L2) gene and prostate cancer risk in a population‐based study (2008) (44)
Differential phylogenetic footprinting as a means to identify base changes responsible for recruitment of the anthropoid gamma gene to a fetal expression pattern. (1994) (44)
Benefits and Risks of Influenza Research: Lessons Learned (2012) (44)
Alternative Splicing of TCF7L2 Gene in Omental and Subcutaneous Adipose Tissue and Risk of Type 2 Diabetes (2009) (43)
Biospecimen policy: Family matters (2013) (43)
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk (2017) (43)
The W64R variant of the β3-adrenergic receptor is not associated with Type II diabetes or obesity in a large Finnish sample (1999) (43)
Contemplating the end of the beginning. (2001) (43)
A radiation hybrid map of the BRCA1 region of chromosome 17q12-q21. (1993) (43)
Pharmacogenomics : social, ethical, and clinical dimensions (2003) (42)
Physical mapping of the cystic fibrosis region by pulsed-field gel electrophoresis. (1988) (42)
Use of microarray hybrid capture and next-generation sequencing to identify the anatomy of a transgene (2013) (41)
The hunt for the neurofibromatosis gene. (1991) (41)
FDA approves new upgraded Gardasil 9. (2015) (41)
The Human Genome Project and the Future of Medicine (1999) (40)
Interaction of Sp1 with the human gamma globin promoter: binding and transactivation of normal and mutant promoters. (1991) (40)
Candida zeylanoides: another opportunistic yeast (1991) (40)
A Drosophila functional evaluation of candidates from human genome-wide association studies of type 2 diabetes and related metabolic traits identifies tissue-specific roles for dHHEX (2013) (40)
The Human Genome Project. Revealing the shared inheritance of all humankind. (2001) (40)
Progeria: Translational insights from cell biology (2012) (40)
The cystic fibrosis gene: isolation and significance. (1990) (39)
Human fetal globin DNA sequences suggest novel conversion event. (1984) (39)
A targeted antisense therapeutic approach for Hutchinson–Gilford progeria syndrome (2021) (39)
Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts (2018) (39)
A Type 2 Diabetes–Associated Functional Regulatory Variant in a Pancreatic Islet Enhancer at the ADCY5 Locus (2017) (39)
Refined physical and genetic mapping of the NF1 region on chromosome 17. (1989) (39)
Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution (2009) (39)
Phone apps could help promote sexual health in MSM (2014) (38)
NIH/Kennedy Center Workshop on Music and the Brain: Finding Harmony (2018) (38)
Hydrocephalus and abnormal digits after failed first-trimester prostaglandin abortion attempt. (1983) (38)
Intentional infection of vulnerable populations in 1946-1948: another tragic history lesson. (2010) (38)
Direct construction of a chromosome-specific NotI linking library from flow-sorted chromosomes. (1989) (38)
Isolation, characterization, expression and functional analysis of the zebrafish ortholog of MEN1 (2000) (38)
Nurses and the genomic revolution. (2005) (37)
The next generation of obesity research: no time to waste. (2012) (37)
Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (2016) (37)
Haplotype analysis defines a minimal interval for the multiple endocrine neoplasia type 1 (MEN1) gene. (1997) (37)
Human longevity and common variations in the LMNA gene: a meta‐analysis (2012) (36)
Applications of DNA chips for genomic analysis (1998) (36)
How to fulfill the true promise of "mHealth": Mobile devices have the potential to become powerful medical tools. (2012) (36)
The gene for multiple endocrine neoplasia type 1: recent findings. (1999) (35)
Acute myeloid leukemia with Inv (16) produces a chimeric transcription factor with a myosin heavy chain tail. (1994) (35)
Parathyroid tumor development involves deregulation of homeobox genes. (2008) (35)
Smooth muscle myosin heavy chain locus (MYH11) maps to 16p13.13-p13.12 and establishes a new region of conserved synteny between human 16p and mouse 16. (1993) (35)
pYAC-RC, a yeast artificial chromosome vector for cloning DNA cut with infrequently cutting restriction endonucleases. (1988) (34)
A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression. (2018) (34)
The human genome at ten (2010) (34)
A class I jumping clone places the HLA-G gene approximately 100 kilobases from HLA-H within the HLA-A subregion of the human MHC. (1991) (34)
Genetic Discrimination: Time to Act (2003) (33)
Identification and characterization of JunD missense mutants that lack menin binding (2000) (33)
Core binding factor beta-smooth muscle myosin heavy chain chimeric protein involved in acute myeloid leukemia forms unusual nuclear rod-like structures in transformed NIH 3T3 cells. (1996) (33)
Progress towards identifying the neurofibromatosis (NF1) gene. (1989) (33)
BoostMe accurately predicts DNA methylation values in whole-genome bisulfite sequencing of multiple human tissues (2017) (33)
Ahead of schedule and under budget: the Genome Project passes its fifth birthday. (1995) (32)
Integrative genetic analysis of allergic inflammation in the murine lung. (2014) (32)
Chromosome jumping from D4S10 (G8) toward the Huntington disease gene. (1988) (32)
A role for coding functional variants in HNF4A in type 2 diabetes susceptibility (2010) (32)
Linkage studies with chromosome 17 DNA markers in 45 neurofibromatosis 1 families. (1987) (31)
Australia reports on audit of silicosis for stonecutters (2019) (31)
Why data-sharing policies matter (2009) (31)
Hydroa vacciniforme-like lymphoproliferative disorder: an EBV disease with a low risk of systemic illness in Caucasians. (2019) (31)
A Partial Loss-of-Function Variant in AKT2 Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study (2017) (31)
Avoiding casualties in the genetic revolution: the urgent need to educate physicians about genetics. (1999) (30)
Medicine. Environmental biology and human disease. (2007) (30)
A simple non-radioactive method for diagnosis of Huntington's disease. (1993) (30)
Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8545 Finnish men from the METSIM study (2018) (29)
NIH’s transformative opportunities for the behavioral and social sciences (2016) (29)
Replicating genotype – phenotype associations What constitutes replication of a genotype – phenotype association , and how best can it be achieved ? (2007) (29)
A Framework for Decisions About Research with HPAI H5N1 Viruses (2013) (29)
No Interactions Between Previously Associated 2-Hour Glucose Gene Variants and Physical Activity or BMI on 2-Hour Glucose Levels (2012) (29)
NIH supports call for moratorium on clinical uses of germline gene editing (2019) (28)
Crosslinking of the surface immunoglobulin receptor in B lymphocytes induces a redistribution of neurofibromin but not p120-GAP. (1994) (28)
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure. (2019) (28)
Surgeon volume and 30 day mortality for brain tumours in England (2016) (28)
Expression of the neurofibromatosis type 1 (NF1) gene during mouse embryonic development. (1995) (28)
Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits. (2019) (28)
Deciphering the code of life. (1999) (28)
Neurofibromatosis type 1. Beyond positional cloning. (1993) (28)
Managing financial conflict of interest in biomedical research. (2010) (27)
Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs. (2006) (27)
Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor. (2000) (27)
Ketamine for depression: the highs and lows. (2015) (26)
Two color hybridization analysis using high density oligonucleotide arrays and energy transfer dyes. (1998) (26)
Report of the National Institutes of Health SARS-CoV-2 Antiviral Therapeutics Summit (2021) (26)
The -175T----C mutation increases promoter strength in erythroid cells: correlation with evolutionary conservation of binding sites for two trans-acting factors (1990) (25)
Basic science: Bedrock of progress. (2016) (25)
Sequencing the human genome. (1997) (25)
Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution. (2019) (25)
Of needles and haystacks: finding human disease genes by positional cloning. (1991) (25)
Motif signatures in stretch enhancers are enriched for disease-associated genetic variants (2015) (25)
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2017) (25)
Repression of the NF1 gene by Tax may expain the development of neurofibromas in human T-lymphotropic virus type 1 transgenic mice (1996) (25)
Characterization of naturally occurring cutaneous neurofibromatosis in Holstein cattle. A disorder resembling neurofibromatosis type 1 in humans. (1994) (25)
Non-random X-Inactivation in the Female Mule (1969) (25)
The leukemic core binding factor beta-smooth muscle myosin heavy chain (CBF beta-SMMHC) chimeric protein requires both CBF beta and myosin heavy chain domains for transformation of NIH 3T3 cells. (1995) (24)
Genetic risk scores in the prediction of plasma glucose, impaired insulin secretion, insulin resistance and incident type 2 diabetes in the METSIM study (2017) (24)
Isolation of additional polymorphic clones from the cystic fibrosis region, using chromosome jumping from D7S8. (1989) (24)
Isolation, genomic organization, and expression analysis of Men1, the murine homolog of the MEN1 gene (1999) (24)
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome (2016) (24)
Pancreatic Insulinomas in Multiple Endocrine Neoplasia, Type I Knockout Mice Can Develop in the Absence of Chromosome Instability or Microsatellite Instability (2004) (24)
The Role of Science in the Opioid Crisis. (2017) (23)
Modulation of neurofibromatosis type 1 gene expression during in vitro myoblast differentiation (1994) (23)
A chromosome jump crosses a translocation breakpoint in the von recklinghausen neurofibromatosis region (1990) (23)
Realizing the Dream of Molecularly Targeted Therapies for Cystic Fibrosis. (2019) (23)
Multicolor FISH mapping with Alu-PCR-amplified YAC clone DNA determines the order of markers in the BRCA1 region on chromosome 17q12-q21. (1993) (23)
Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families (2014) (23)
Approaches to localizing disease genes as applied to cystic fibrosis. (1990) (23)
Structure of the leukemia-associated human CBFB gene. (1995) (22)
Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci (2022) (22)
The deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases. (1987) (22)
Opinion: The Next Generation Researchers Initiative at NIH (2017) (22)
The Human Genome Project: view from the National Institutes of Health. (1997) (22)
Narrow-sense heritability estimation of complex traits using identity-by-descent information (2017) (22)
Genetic ophthalmology and the era of clinical care. (2007) (22)
A call for increased education in genetics for dental health professionals. (2004) (22)
Identification of the chimeric protein product of the CBFB-MYH11 fusion gene in inv(16) leukemia cells. (1996) (22)
Turning on and off recurrent balanced cortical activity (21)
A database on global health research in Africa. (2013) (21)
The National Children's Study--a proposed plan. (2013) (21)
Europe to boost development of new antimicrobial drugs (2012) (21)
The deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases (1987) (21)
A compound nucleotide repeat in the neurofibromatosis (NF1) gene. (1993) (21)
NIH Roadmap/Common Fund at 10 years (2014) (21)
A recombination event that redefines the Huntington disease region. (1992) (20)
Sound Health: An NIH-Kennedy Center Initiative to Explore Music and the Mind. (2017) (20)
Mutation analysis in cystic fibrosis. (1990) (20)
SacI RFLP in the human von Willebrand factor gene. (1987) (20)
Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (Nature Genetics (2010) 42 (105-116)) (2010) (20)
Analysis of yeast artificial chromosome clones. (1992) (20)
An audience with...Francis Collins. Interviewed by Asher Mullard. (2011) (20)
Australian Government releases face masks to protect against coronavirus (2020) (20)
ARPA-H: Accelerating biomedical breakthroughs (2021) (20)
COVID-19 human challenge studies in the UK (2020) (20)
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2017) (20)
The role of the human genome project in disease prevention. (1994) (19)
Opportunities and challenges for the NIH--an interview with Francis Collins. Interview by Robert Steinbrook. (2009) (19)
Science Visioning in Minority Health and Health Disparities. (2019) (19)
UK committee recommends HPV vaccination for MSM. (2015) (19)
Identifying human disease genes by positional cloning. (1990) (19)
DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation. (1990) (19)
Human chromosome 17 NotI linking clones and their use in long-range restriction mapping of the Miller-Dieker chromosome region (MDCR) in 17p13.3. (1990) (19)
A march of genetic maps (1996) (19)
Mouse Embryo Fibroblasts Lacking the Tumor Suppressor Menin Show Altered Expression of Extracellular Matrix Protein Genes (2007) (18)
No association between a candidate TCF7L2 variant and risk of breast or ovarian cancer (2009) (18)
Mixed malignant tumour of the lung. (1979) (18)
A User's Guide to the Human Genome (2002) (18)
Rheumatologists rapidly adjust patient care during COVID-19 pandemic (2020) (18)
Evaluation of SLC2A10 (GLUT10) as a candidate gene for type 2 diabetes and related traits in Finns. (2005) (18)
Human Molecular Genetics and Genomics - Important Advances and Exciting Possibilities. (2021) (18)
Evaluation of musculoskeletal phenotype of the G608G progeria mouse model with lonafarnib, pravastatin, and zoledronic acid as treatment groups (2020) (18)
Trans-ancestry Fine Mapping and Molecular Assays Identify Regulatory Variants at the ANGPTL8 HDL-C GWAS Locus (2017) (18)
Concordance of a point mutation 5' to the A gamma-globin gene with A gamma beta + hereditary persistence of fetal hemoglobin in Greeks. (1986) (18)
A high-density microsatellite map of the ataxia-telangiectasia locus (1995) (17)
E-cigarette use in Great Britain. (2019) (17)
A bacterial system for investigating transport effects of cystic fibrosis--associated mutations. (1991) (17)
Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer (2014) (17)
Tissue-specific alternative splicing of TCF 7 L 2 (2009) (17)
Faces of the Genome (2011) (17)
Estimating Hepatic Glucokinase Activity Using a Simple Model of Lactate Kinetics (2012) (17)
Genetic analysis of eight loci tightly linked to neurofibromatosis 1. (1989) (17)
Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (17)
The introduction of biologically active foreign genes into human respiratory epithelial cells using electroporation. (1988) (17)
Influence of genetic variants on gene expression in human pancreatic islets – implications for type 2 diabetes (2019) (17)
Single-cell transcriptomics from human pancreatic islets: sample preparation matters. (2019) (17)
Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia. (1989) (16)
Scientists need a shorter path to research freedom (2010) (16)
Three dinucleotide repeat polymorphisms at the ataxia-telangiectasia locus. (1994) (16)
Recognition of Research Participants' Need for Autonomy: Remembering the Legacy of Henrietta Lacks. (2020) (16)
New HIV diagnoses in London's gay men continue to soar (2013) (16)
Pathology of osseous and genitourinary lesions of Proteus syndrome. (1993) (16)
Construction of an ∼700-kb Transcript Map Around the Familial Mediterranean Fever Locus on Human Chromosome 16p13.3 (1998) (16)
Profile: British Columbia Centre for Excellence in HIV/AIDS (2015) (16)
Identification and Functional Characterization of G 6 PC 2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G 6 PC 2-ABCB 11 Locus (2015) (16)
Design of modified oligodeoxyribonucleotide probes to detect telomere repeat sequences in FISH assays. (1999) (16)
Genetics in the context of medical practice. (1998) (16)
After Third Death, Audentes' AT132 Remains on Clinical Hold. (2020) (16)
COVID-19: Top 60 Drug Treatments in Development (2020) (15)
Concordance of a point mutation 5' to the G gamma globin gene with G gamma beta +. Hereditary persistence of fetal hemoglobin in the black population (1984) (15)
Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (2011) (15)
A polymorphic cDNA probe on chromosome 17q11.2 located within the NF1 gene [D17S376]. (1991) (15)
Genetics and nursing science: realizing the potential. (2003) (15)
Transfection of primary human skin fibroblasts by electroporation. (1988) (15)
Health quality organization criticizes colonoscopies given without pain medication. (2001) (15)
Steering a New Course for Stem Cell Research: NIH's Intramural Center for Regenerative Medicine (2012) (15)
Analysis of CpG C‐to‐T mutations in neurofibromatosis type 1 (1998) (15)
Physical localization of microsatellite markers at the ataxia-telangiectasia locus at 11q22-q23. (1994) (15)
The molecular biology of cystic fibrosis. (1993) (15)
NIH Basics (2012) (15)
Transient induction of telomerase expression mediates senescence and reduces tumorigenesis in primary fibroblasts (2019) (15)
ACE2 expression in adipose tissue is associated with COVID-19 cardio-metabolic risk factors and cell type composition (2020) (14)
COVID-19 lessons for research (2021) (14)
Fourth Boy Dies in Clinical Trial of Astellas' AT132. (2021) (14)
Genetic interactions between Drosophila melanogaster menin and Jun/Fos. (2006) (14)
Recognition of Research Participants' Need for Autonomy: Remembering the Legacy of Henrietta Lacks. (2020) (14)
In vitro hematopoietic differentiation of mouse embryonic stem cells requires the tumor suppressor menin and is mediated by Hoxa9 (2009) (14)
Overexpression of core-binding factor alpha (CBF alpha) reverses cellular transformation by the CBF beta-smooth muscle myosin heavy chain chimeric oncoprotein (1995) (14)
Oral Health for All - Realizing the Promise of Science. (2022) (14)
2005 William Allan Award address. No longer just looking under the lamppost. (2006) (14)
Genetics: an explosion of knowledge is transforming clinical practice. (1999) (14)
Genetic analysis of over one million people identifies 535 novel loci for blood pressure (2017) (14)
Seeking a Cure for One of the Rarest Diseases: Progeria (2016) (14)
Characterization of 10 new polymorphic dinucleotide repeats and generation of a high-density microsatellite-based physical map of the BRCA1 region of chromosome 17q21. (1994) (13)
Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010) (13)
Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region. (1992) (13)
A 500-kb physical map and contig from the Harvey ras-1 gene to the 11p telomere. (1996) (13)
A welcome animal model (1992) (13)
Biomedical research: strength from diversity. (2013) (13)
Robert Edwards: Nobel Prize for father of in-vitro fertilisation (2010) (13)
Sequencing and analysis of genomic fragments from the NF1 locus. (1992) (13)
11q13 allelotype analysis in 27 northern American MEN1 kindreds identifies two distinct founder chromosomes. (1998) (13)
Oral-facial-digital syndrome and retinal abnormalities with autosomal recessive inheritance. (1993) (13)
Cystic ibrosis: Molecular Biology and Therapeutic Implications (1992) (13)
Mycoplasma genitalium: a potential new superbug. (2018) (12)
Australia to be first country to vaccinate boys against HPV. (2012) (12)
David Molyneux: raising the profile of neglected tropical diseases (2010) (12)
Reverse genetics and cystic fibrosis. (1990) (12)
Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties (2000) (12)
Calls for more detailed studies on toxoplasmosis. (2012) (12)
CDC says colorectal cancer screening rates remain low. (2003) (12)
Australia makes up for lost time on rare diseases (2012) (12)
Genetic reduction of mTOR extends lifespan in a mouse model of Hutchinson‐Gilford Progeria syndrome (2021) (12)
Canada accused of hypocrisy over asbestos exports (2010) (12)
Genetic effects on liver chromatin accessibility identify disease regulatory variants. (2021) (12)
Interactions between genetic variation and cellular environment in skeletal muscle gene expression (2017) (11)
Cutaneous Manifestations of Adverse Drug Reactions (1991) (11)
Multiple Imputation of Missing Phenotype Data for QTL Mapping (2011) (11)
Controversy surrounds England's new NHS database (2014) (11)
Characterization of a single base-pair deletion in neurofibromatosis type 1. (1993) (11)
Identification of disease genes: recent successes. (1991) (11)
Gene therapy for cystic fibrosis. (1996) (11)
Update on and Future Directions for Use of Anti–SARS-CoV-2 Antibodies: National Institutes of Health Summit on Treatment and Prevention of COVID-19 (2021) (11)
Localization of a Human T-Cell-Specific Gene , RANTES ( D 17 S 136 E ) , to Chromosome 17 ql 1 . 2q 12 (2003) (11)
The distinction between multiple retinal pigment epithelial hamartomata (MRPEH) in familial adenomatous polyposis (FAP) and congenital hypertrophy of the retinal pigment epithelium (CHRPE) (1993) (10)
Genome research: the next generation. (2003) (10)
RsaI RFLP in the human von Willebrand factor gene. (1987) (10)
More from the modellers (1992) (10)
Genomics and the family physician: realizing the potential. (2004) (10)
Congenital cytomegalovirus-a neglected health problem. (2016) (10)
New test could make carrier screening more accessible (2010) (10)
Record highs of sexually transmitted infections in UK's MSM. (2014) (10)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (10)
Whole‐exome sequencing emerges as clinical diagnostic tool (2014) (10)
The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene. (1992) (10)
Medical Implications of the Genetic Revolution (1998) (10)
Screening for chronic kidney disease shows promise (2010) (10)
Rubella is eliminated from the Americas. (2015) (10)
Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3. (1998) (10)
A YAC contig spanning the ataxia-telangiectasia locus (groups A and C) at 11q22-q23. (1994) (10)
Global tuberculosis progress reversed by COVID-19 pandemic (2021) (10)
Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation (2019) (9)
Genetics for the Human Race (2004) (9)
The end of over-the-counter codeine in Australia. (2018) (9)
Correction: Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults (2017) (9)
Tuberculosis rates unacceptably high in UK cities. (2013) (9)
UN agrees new treaty to reduce harm from mercury (2013) (9)
Therapeutic Neutralizing Monoclonal Antibodies: Report of a Summit sponsored by Operation Warp Speed and the National Institutes of Health (2020) (9)
Subsets of Finns with High HDL to Total Cholesterol Ratio Show Evidence for Linkage to Type 2 Diabetes on Chromosome 6q (2006) (9)
Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese (2004) (9)
Single-Minded Research Review: The Common Rule and Single IRB Policy (2017) (9)
Hospital patient safety incidents account for $6 billion in extra costs annually. (2004) (9)
Addendum: Biotinylation by antibody recognition—a method for proximity labeling (2018) (9)
Development of potential COVID-19 vaccines continues to accelerate (2020) (9)
WHO: 92% of the world's population breathe polluted air. (2016) (9)
Concordance of a point mutation 5' to the G gamma globin gene with G gamma beta +. Hereditary persistence of fetal hemoglobin in the black population. (1984) (8)
Francis Collins interview. Departing U.S. genome institute director takes stock of personalized medicine. Interview by Jocelyn Kaiser. (2008) (8)
Erratum to: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits : (Nature Genetics, (2018), 50, 10, (1412-1425), 10.1038/s41588-018-0205-x) (2018) (8)
COVID-19 survivor experiencing long-term symptoms (2021) (8)
Extensively drug‐resistant tuberculosis hovers threateningly at Australia's door (2013) (8)
When should pediatric biobanks share data? (2010) (8)
Localization of Romano-Ward long QT syndrome gene, LQT1, to the interval between tyrosine hydroxylase (TH) and D11S1349. (1995) (8)
Influenza vaccination in the morning improves response. (2016) (8)
Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (8)
Specific expression of the neurofibromatosis type 1 gene (NF1) in the hamster Schwann cell. (1994) (8)
The Partnership for Accelerating Cancer Therapies (2018) (8)
Gene therapy briefs. (2013) (7)
Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations. (1995) (7)
Analysis of mutations associated with deletion and nondeletion hereditary persistence of fetal hemoglobin. (1985) (7)
England's HIV services face complex new environment (2014) (7)
NIH progress toward inclusive excellence (2020) (7)
The Clinical Research Forum and Association of American Physicians disagree with criticism of the NIH Roadmap. (2006) (7)
Incentivizing a New Culture of Data Stewardship: The NIH Policy for Data Management and Sharing. (2021) (7)
Cabotegravir, a new option for PrEP. (2020) (7)
Ten base pair duplication in exon 38 of the NF1 gene. (1994) (7)
Victor A. McKusick (1921-2008) (2008) (7)
After Patient Death, FDA Places Hold on Pfizer Duchenne Muscular Dystrophy Gene Therapy Trial. (2022) (7)
Orphan drugs, big pharma. (2011) (7)
Profile: NIH's Fogarty International Center (2014) (7)
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy (2021) (6)
Genetics: not just in there somewhere, but at the very center of medicine (1998) (6)
Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries (2018) (6)
Dean Street clinics-battling London's MSM HIV epidemic. (2018) (6)
Novartis Confirms Deaths of Two Patients Treated with Gene Therapy Zolgensma. (2022) (6)
BRIEF REPORT The Parathyroid/Pituitary Variant of Multiple Endocrine Neoplasia Type 1 Usually Has Causes Other than p27 Kip1 Mutations (2007) (6)
Isolation and characterization of somatic cell hybrids with breakpoints spanning 17q22-->q24. (1993) (6)
Health and science suffer major cuts in Australia's budget (2014) (6)
Moving Australia's health-care system into the 21st century (2010) (6)
Targeting HIV prevention to young women in Africa (2016) (6)
"First do no harm" also applies to cancer susceptibility testing. (1996) (6)
Talking about Down syndrome. (2009) (6)
G'YP+ Hereditary persistence of fetal hemoglobin: Cosmid cloning and identification of a specific mutation 5' to the Gy gene (1999) (6)
The ENCODE (ENCyclopedia Of DNA Elements) Project The ENCODE Project Consortium (2004) (6)
No jab, no play: Australia and compulsory vaccination. (2017) (6)
A Panel of Diverse Assays to Interrogate the Interaction between Glucokinase and Glucokinase Regulatory Protein, Two Vital Proteins in Human Disease (2014) (6)
The human genome project: evolving status and emerging opportunities for disease prevention (2000) (6)
Large Molecules Continue to Gain Favor (2012) (6)
The -175T----C mutation increases promoter strength in erythroid cells: correlation with evolutionary conservation of binding sites for two trans-acting factors. (1990) (6)
PrEP finally approved on NHS in England (2020) (6)
Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus. (1992) (6)
The UK reaches UNAIDS 90-90-90 targets (2018) (6)
Colin Sullivan: inventive pioneer of sleep medicine (2011) (6)
Sizing of the human T cell receptor alpha locus and detection of a large deletion in the Molt-4 cell line. (1988) (6)
The NIH-led research response to COVID-19 (2023) (6)
Are you genetically literate? (2003) (5)
New testing guidelines for hearing loss support next‐generation sequencing (2014) (5)
An audience with... Francis S. Collins [interview]. (2004) (5)
WHO celebrates 40 years since eradication of smallpox. (2020) (5)
Atul Gawande—making surgery safer worldwide (2010) (5)
New antimicrobials--lots of talk, where is the action? (2016) (5)
New antibiotic development hailed as game changing. (2015) (5)
Exome array analysis identifies novel loci and low-frequency variants for insulin processing and secretion (2013) (5)
17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one. (1995) (5)
Overexpression of core-binding factor alpha (CBF alpha) reverses cellular transformation by the CBF beta-smooth muscle myosin heavy chain chimeric oncoprotein (1996) (5)
Tezacaftor-ivacaftor is safe and efficacious in patients with cystic fibrosis with Phe508del mutations. (2018) (5)
Linkage analysis of peripheral neurofibromatosis to DNA markers on chromosome 8. (1987) (5)
E-cigarettes declared 95% less harmful than tobacco by UK health body. (2015) (5)
The Human Genome Project (1995) (5)
Cancer: A Disease of the Genome (2007) (5)
Autism in siblings often caused by different faulty genes, study says (2015) (5)
2 – Molecular Biology of Cystic Fibrosis (1993) (5)
MUTATION IN BRIEF (1993) (5)
Localization of the gene for ATP citrate lyase (ACLY) distal to gastrin(GAS) and proximal to D17S856 on chromosome 17q12-q21. (1994) (5)
Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences (2020) (5)
Pulse oximeters breathe life into surgery in poorer nations (2011) (5)
Biotinylation by antibody recognition - A novel method for proximity labeling (2016) (5)
D21S194, a jump clone from D21S16. (1990) (5)
After Analysis, Bluebird Bio Says Vector "Very Unlikely" Cause of Acute Myeloid Leukemia. (2021) (5)
MSM in England to be offered free HPV vaccination. (2018) (5)
Germline BRCA 1 Mutations and Loss of the Wild-Type Allele in Tumors from Families with Early Onset Breast and Ovarian Cancer 1 (2005) (5)
Physicians should increase knowledge of herbal remedies. (2001) (5)
Nuclear Proteins ThatBindtheHuman-y-Globin GenePromoter: Alterations inBinding Produced byPoint Mutations Associated withHereditary Persistence ofFetal Hemoglobin (1988) (5)
Blunting the legacy of alcohol abuse in Western Australia (2012) (5)
Concordance of a Point Mutation 5 ’ to the “ y Globin Gene With G # y + Hereditary Persistence of Fetal Hemoglobin in the Black Population (2005) (5)
Genome wide conditional mouse knockout resources (2016) (5)
Corrigendum: Positional cloning moves from perditional to traditional (1995) (5)
Isolation of Gene Sequences from the BRCA1 Region of Chromosome 17q21 by Exon Amplification (1994) (4)
Dinucleotide repeat polymorphism at the D10S469 locus. (1993) (4)
Facial analysis technology aids diagnoses of genetic disorders (2014) (4)
Routine prostate screening may be unnecessary and harmful. (2003) (4)
Transforming properties of the leukemic inv(16) fusion gene CBFB-MYH11. (1996) (4)
23andMe markets carrier screening service directly to consumers (2016) (4)
Type 1 neurofibromatosis gene: correction. (1990) (4)
Kymriah, First CAR-T Cancer Immunotherapy Approved by FDA (2017) (4)
Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. (2020) (4)
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk (2022) (4)
Genetic Discrimination Lawsuit Raises Broader Concerns About Testing, Privacy: Case Involves Middle School Student Impacted by Results of Genetic Screening Test as Newborn (2016) (4)
Food and Drug Administration Lifts Clinical Hold on Pfizer Duchenne Muscular Dystrophy Gene Therapy Linked to Patient Death. (2022) (4)
Localisation of the endpoints of deletions in the 5' region of the Duchenne gene using a sequence isolated by chromosome jumping. (1988) (4)
Intentional Infection of Vulnerable Populations in 1946-1948 (2010) (4)
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies (2021) (4)
Familial breast cancer. Approaching the isolation of a susceptibility gene. (1994) (4)
Moderna's COVID-19 Vaccine Speeds to Phase III Trial After More Positive Data (2020) (4)
Expanded Ashkenazi Jewish prenatal testing panel well received (2010) (4)
The Top 10 U.S. Biopharma Clusters (2018) (4)
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits. (2022) (4)
San Francisco AIDS Foundation. (2019) (4)
Profile: Australia’s Baker IDI Heart and Diabetes Institute (2014) (4)
Louisa Degenhardt: hooked on addiction research (2012) (4)
Aiming to end San Francisco's HIV epidemic. (2019) (4)
The gene for the alpha i1 subunit of human guanine nucleotide binding protein maps near the cystic fibrosis locus. (1988) (4)
Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls (2018) (4)
In Reply: Type 1 Neurofibromatosis Gene: Correction (1990) (4)
Cystic fibrosis. A welcome animal model. (1992) (4)
Stephen Luby: promoting the importance of water for health (2009) (4)
Cystic fibrosis. More from the modellers. (1992) (4)
25 Up-and-Coming Gene Therapies (2019) (4)
UK senior police officer with COVID-19 (2020) (4)
Adult Turner syndrome associated with chylous ascites and vascular anomalies (1987) (4)
Sari Reisner—making transgender health visible (2016) (4)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (4)
Nigeria's bone marrow registry offers new hope to patients (2012) (4)
Wayne Cutfield: putting the spotlight on early life development (2015) (4)
Chips around the world : Proceedings from the Nature Genetics Microarray Meeting (2000) (4)
David W. Smith Workshop celebrates 30 years of discovery (2010) (4)
Australia considers string of preventive health measures (2009) (4)
Structure of the leukemia-associated human CBFB gene. (1996) (4)
NIH research: Think globally (2015) (3)
The tricky matter of secondary genomic findings (2012) (3)
Australian state of Victoria passes assisted dying bill. (2018) (3)
"Profoundly Saddened" Lysogene Discloses Child's Death in Phase II/III Trial. (2020) (3)
Timothy Walsh: introducing the world to NDM-1. (2012) (3)
Hope for young disabled Australians in elderly care homes (2011) (3)
Top 10 Under 40 (2018) (3)
Patients and families generally welcome secondary genomic findings (2014) (3)
In vivo base editing rescues Hutchinson–Gilford progeria syndrome in mice (2021) (3)
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (3)
No Longer Just Looking under the Lamppost * * Previously presented at the annual meeting of The Amer (2006) (3)
New inherited immune disorder revealed. (2009) (3)
Advanced practice nurses lengthen survival of elderly cancer patients. (2001) (3)
One Small Dose, One Giant Leap for CRISPR Gene Editing. (2020) (3)
Supplementary Material 5 (2014) (3)
A Transcription Start Site Map in Human Pancreatic Islets Reveals Functional Regulatory Signatures (2019) (3)
Contract aims to improve newborn screening policies. (2009) (3)
Analysis of somatic mutations identifies signs of selection during in vitro aging of primary dermal fibroblasts (2019) (3)
ACE2 expression in adipose tissue is associated with cardio-metabolic risk factors and cell type composition—implications for COVID-19 (2022) (3)
Gene therapy briefs. (2012) (3)
Newborn screening for Duchenne muscular dystrophy gains support (2012) (3)
Common non-coding SNPs near the Hepatocyte Nuclear Factor-4 Alpha gene are associated with type 2 diabetes (2003) (3)
Medical foods prescribed to treat methylmalonic acidemia linked with adverse outcomes for some patients (2015) (3)
Stop overstocking blood for neurosurgery, study says. (2002) (3)
New guidelines for diagnosis of Marfan and Loey‐Dietz syndromes (2010) (3)
Effect of pest management on asthma symptoms. (2017) (3)
Nicola Roxon: Australia's Minister for Health and Ageing (2009) (3)
Indian coral islands under threat from algae (2008) (3)
New psychoactive substances in prisons: high and getting higher. (2016) (3)
Landmark legal ruling sees Indian girl prescribed bedaquiline for XDR-TB. (2017) (3)
Biotinylation by antibody recognition (2017) (3)
Second person reported in remission from HIV infection (2019) (3)
ICU physicians can save money, study says. (2004) (3)
Developing a balanced business model for gene therapy. (2011) (3)
A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model (Proceedings of the National Academy of Sciences of the United States of America (2008) 105, (15902-15907) DOI: 10.1073/pnas.0807840105) (2009) (3)
European societies form biomedical alliance (2011) (3)
A majority of parents accept newborn screening for fragile X (2011) (3)
Supplementary Material 7 (2014) (3)
Federal plan to advance targeted disease treatment unclear on benefits for children with rare diseases (2015) (3)
The bridge between lab and clinic. Interview by Meredith Wadman. (2010) (3)
Isolation of Expressed Sequences from the Chromosome 17q21 BRCA1 Region by Magnetic Bead Capture (1994) (3)
Whole‐exome sequencing effective at diagnosing elusive genetic disorders (2015) (3)
Genomics in medicine: hype or real promise? Interview by Ed Rabinowitz. (2003) (3)
Russell Gruen: precision and progress in trauma care (2012) (3)
Rapid identification of polymorphic CA-repeats in YAC clones (1995) (3)
Bongani Mayosi: targeting heart diseases of poverty in Africa (2012) (3)
Companion to British Road Haulage History (2004) (3)
Supplementary Material 3 (2015) (3)
Late onset Pompe disease revealed by newborn screening (2011) (3)
Science Media Centres go global (2011) (3)
Supplementary Material 6 (2014) (3)
Low dose, long-term warfarin safely prevents blood clots. (2003) (3)
Genetics Resources on the Web (GROW) (2000) (3)
HIV pre-exposure prophylaxis: a tale of two countries. (2017) (3)
Fears of a new wave of mesothelioma in home renovators? (2013) (2)
David Whiteman: harnessing the power of cancer prevention (2018) (2)
Reducing stigma around smoking would encourage more early lung cancer screening. (2020) (2)
New research may help differentiate similar diagnoses (2010) (2)
Australia publishes hospital staphylococcus bacteraemia rates. (2012) (2)
Young non-smoker diagnosed with lung cancer. (2020) (2)
Single-cell gene expression and chromatin accessibility profiling of human pancreatic islets at basal and stimulatory conditions nominates mechanisms of type 1 diabetes genetic risk (2022) (2)
Ph.D.s Need Not Apply (2013) (2)
Top 10 Companies Leveraging Gene Editing (2018) (2)
The CA repeat marker D17S791 is located within 40 kb of the WNT3 gene on chromosome 17q. (1993) (2)
Institute of Medicine rejects vaccine-autism link. (2004) (2)
Profiteering threatens the altruism of tissue donation (2012) (2)
Corrigendum: The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals (1996) (2)
Precision Oncology-Focused Roche to Acquire Flatiron Health for $1.9B (2018) (2)
The gene for pancreatic polypeptide (PPY) and the anonymous marker D17S78 are within 45 kb of each other on chromosome 17q21. (1994) (2)
Policy: NIH push to stop sexual harassment (2016) (2)
Alternative Splicing in the Proposed Catalytic Domain of the Type-1 Neurofibromatosis Gene (1991) (2)
Genome-wide association study of 1,391 plasma metabolites in 6,136 Finnish men identifies 303 novel signals and provides biological insights into human diseases (2021) (2)
Top 15 Best-Selling Drugs Launched in 2020 (2021) (2)
Outpatient pelvic inflammatory disease treatment as effective as inpatient care, study finds. (2002) (2)
New approaches to BRCA1 mutation detection. (1998) (2)
Race Disparity in Grants: Oversight at Home—Response (2011) (2)
10 g of fat per day may keep gallstones away. (1993) (2)
Virtual surgery. (2016) (2)
The trouble with Ovasure. (2009) (2)
UK sexual health services struggle with public health cuts. (2018) (2)
Solomon Tesfaye: preventing complications of diabetic neuropathy. (2014) (2)
Top 15 Best-Selling Drugs of 2018 (2019) (2)
Cloning of the human NADH: ubiquinone oxidoreductase subunit B13: Localization to Chromosome 7q32 and identification of a pseudogene on 11pl5 (2009) (2)
Psychologists' contributions to the genetic revolution. (2003) (2)
Crowdfunding Touches Down in Biotech (2013) (2)
Profile: The Kirby Institute celebrates 30 years (2016) (2)
microarrays Mutational analysis using oligonucleotide (1999) (2)
Clare Gerada: Chair of UK's Royal College of General Practitioners (2011) (2)
An Evaluation of the Tolerability and Feasibility of Combining 5-Amino-Levulinic Acid (5-ALA) with BCNU Wafers in the Surgical Management of Primary Glioblastoma (2021) (2)
Francis Collins (2021) (2)
New information, recommendations for Potocki-Shaffer syndrome. (2010) (2)
Genome-wide association scans identify novel loci that influence lipid levels and risk of coronary artery disease (2007) (2)
Diabetes Project (1997) (2)
First Patient Dosed with VCTX210, a Cell Therapy for Type 1 Diabetes (2022) (2)
Six Up-and-Coming COVID-19 Vaccines (2021) (2)
A National Hepatitis C Elimination Program in the United States: A Historic Opportunity. (2023) (2)
Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8 (1990) (2)
Isolation of tetranucleotide repeat polymorphisms flanking the BRCA1 gene. (1996) (2)
Major medical journals will require registration of clinical trials for publication. (2004) (2)
New guidelines suggest childhood training for cardiovascular health. (2002) (2)
Australia to be first country to use plain cigarette packaging. (2011) (2)
Stress management helps control glucose in type 2 diabetics. (2002) (2)
Plain cigarette packaging: Australia's victory (2012) (2)
Dinucleotide repeat polymorphisms at the D4S126 and D4S114 loci. (1993) (2)
Are You Genetically Literate?: April 2003 is Human Genome Month. (2003) (2)
which have GTPase-activating protein activity. produces two neurofibromin isoforms, both of Recklinghausen neurofibromatosis (NF1) gene A conserved alternative splice in the von (2012) (2)
Top 50 NIH-Funded Institutions of 2022 (2022) (2)
New Pennsylvania law requires error reporting for learning purposes. (2004) (2)
Profile: Liverpool School of Tropical Medicine, UK (2016) (2)
Crafting a robust business model for orphan drug development. (2011) (2)
Jeff Waage—building a coalition of disciplines for global health (2010) (2)
Physical health passports for patients with severe and enduring mental illness. (2016) (2)
Base editor treats progeria in mice. (2021) (2)
Mammograms do save lives, says a new study. (2002) (2)
BioMarin Defends Up-to-$3M List Price of Hemophilia A Gene Therapy. (2020) (2)
Australia tax increases to price cigarettes out of reach. (2016) (2)
Despite Big Pharma Retreat, R&D Spending Advances (2015) (2)
Tackling obesity in cities. (2013) (2)
From Mendel to a Mendelian disorder: towards a cure for sickle cell disease (2022) (2)
New Zealanders approve euthanasia in landmark vote (2020) (2)
Combating sexual harassment (2020) (2)
Communication with parents counts (2010) (2)
Top 10 Sequencing Companies (2018) (2)
Higher prevalence of immune deficiency syndrome found in infants (2014) (2)
Response to: "Rescuing the NIH before it is too late". (2006) (2)
Godfrey Mbaruku—an early hero of modern maternal health (2010) (2)
Tuberculosis incidence in England hits 30-year low. (2018) (2)
Geneticist to head NICHD (2010) (2)
Kenji Shibuya: promoting global health in Japan (2011) (2)
Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney (2017) (2)
DNA deletion in patients with von Recklinghausen neurofibromatosis (1992) (2)
Increasing cases of drug-resistant gonorrhea prompt new CDC treatment recommendations for gay and bisexual men. (2004) (1)
New HIV diagnoses in MSM in high-income countries. (2015) (1)
Legal, ethical issues loom over topic of recontacting patients (2015) (1)
Biopharma R&D Spending for 2012 Under Siege (2011) (1)
Case: responding to a request for genetic testing that is still in the lab. (1995) (1)
An interview with Francis S. Collins, M.D., Ph.D. Director, National Human Genome Research Institute. (2003) (1)
EndoC-βH1 multi-genomic profiling defines gene regulatory programs governing human pancreatic β cell identity and function (2018) (1)
Cell‐free Fetal DNA Tests Appropriately Used by Geneticists, Often Misunderstood by Patients (2014) (1)
Nelly Mugo—rolling out PrEP in Kenya (2017) (1)
Study finds stroke symptoms differ between the sexes. (2002) (1)
New imaging technology is transforming medicine: Revealing the Body's Deepest Secrets (2010) (1)
U.S. supreme court decision paves way for better genetic testing (2013) (1)
Pfizer and Sangamo Hemophilia A Gene Therapy Aces First Clinical Test. (2020) (1)
Australian scientists lobby for antimicrobial oversight body (2011) (1)
An EcoRI RFLP in the 5′ region of the human NF1 gene (1993) (1)
PrEP use falling short in African American and Hispanic MSM. (2020) (1)
Updated colorectal cancer guidelines shift focus from intensive surveillance to screening. (2003) (1)
Noninvasive prenatal tests for Down syndrome are near (2011) (1)
Team approach helps to reduce blood pressure in African-American men. (2003) (1)
Validating VOCs: Owlstone Medical Tests Breath, Urine for Cancer Biomarkers in Clinical Trial (2017) (1)
Rethy Chhem: from war-torn Cambodia to the IAEA (2011) (1)
Protecting our 'family secrets' (1997) (1)
Modeling islet enhancers using deep learning identifies candidate causal variants at loci associated with T2D and glycemic traits. (2022) (1)
The AJMG SEQUENCE: Decoding news and trends for the medical genetics community (2009) (1)
Infant immunizations don't increase risk of certain illnesses, panel says. (2002) (1)
Christine Jenkins—global advocate for asthma and COPD (2022) (1)
Eduard Vieta: unravelling bipolar disorder's mysteries. (2015) (1)
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FDA Prioritizes Biomarin's Hemophilia Gene Therapy. (2020) (1)
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Simple measure predicts how pneumonia patients will fare after discharge. (2002) (1)
Dual testing strategy in autism increases diagnostic yield (2016) (1)
MMR vaccination in England falls below critical threshold (2022) (1)
Plavix Lawsuits Target Personalized Medicine (2014) (1)
Poverty is a major factor in African American breast cancer deaths. (2002) (1)
Identification of a major susceptibility locus for human prostate cancer (1997) (1)
Prabha Chandra-champion for women's mental health in India. (2018) (1)
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Retooling SBIR Not that Easy (2011) (1)
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Top 10 RNA-Based Biopharmas (2022) (1)
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Interdisciplinary care and planning improves stroke outcomes. (2003) (1)
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Third Phase: Synthego Expanding Cell, Gene Therapy Capabilities with $200M Financing (2022) (1)
Expression of human globin genes in transgenic mice carrying the beta-globin gene cluster with a mutation causing G gamma beta + hereditary persistence of fetal hemoglobin. (1990) (1)
Heart disease management program focuses on individuals. (2001) (1)
Eli Lilly Establishes Gene Therapy Program with $1B Purchase of Prevail. (2021) (1)
First Positive Clinical Data for In Vivo Genome Editing in Humans Opens "New Era of Medicine". (2021) (1)
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NIH to include children's genomic data in electronic medical records (2011) (1)
HIV vaccines: where are we now? (2017) (1)
Anxious wait for patients and big pharma (2015) (1)
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Some hepatitis C patients -- especially women -- don't really benefit from early therapy. (2003) (1)
Brother of Cure Rare Disease CEO Dies in Trial of Duchenne Muscular Dystrophy Therapy. (2022) (1)
Genetic testing using array comparative genomic hybridization may benefit newborns with congenital heart disease (2014) (1)
5 COVID-19 Test Developers to Watch: The coronavirus pandemic compels diagnostics companies to bring new assays, technologies to market (2020) (1)
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Localization of the human homolog of the yeast cell division control 27 gene (CDC27) proximal to ITGB3 on human chromosome 17q21.3 (1995) (1)
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Integrating enhancer RNA signatures with diverse omics data identifies characteristics of transcription initiation in pancreatic islets (2019) (1)
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Gender Bias Pervasive in Academic Hiring (2012) (1)
After Sparring with Payers on Pricing, Bluebird Flies Out of Europe. (2021) (1)
Better treatment of neonates' pain urged. (2001) (1)
INNATE IMMUNE GENE DISCOVERY USING MACROPHAGE RESPONSE TO PATHOGEN-ASSOCIATED MOLECULAR PATTERNS (PAMPS) (2010) (1)
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Newsmaker interview. Francis Collins: on recruiting Varmus, discovering drugs, the funding cliff. Interview by Jocelyn Kaiser. (2010) (1)
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The leukemic core binding factor beta-smooth muscle myosin heavy chain (CBF beta-SMMHC) chimeric protein requires both CBF beta and myosin heavy chain domains for transformation of NIH 3T3 cells. (1995) (1)
Studies evaluate hysterectomy as treatment for abnormal uterine bleeding. (2004) (1)
Synthetic Data for a Real Pandemic (2021) (1)
Adenosquamous carcinoma, a rare and unknown tumor (2018) (1)
StockWatch: Novavax Hits 52-Week Low as Rivals Win FDA Omicron Booster OKs (2022) (1)
Genetic factors may underlie many cerebral palsy cases (2015) (1)
Next‐generation sequencing may reduce cost and wait time for some genetic diagnoses: Experts argue that clinical evaluation remains crucial (2013) (1)
Discovery and Refinement Supplementary (2015) (1)
Change, Change, Change: Heeding the Call (2010) (1)
Patients with both diabetes and heart failure often treated with medications government considers unsafe. (2003) (1)
The Search for Improved Markers of Acute Kidney Injury Will Link Between Kidney Injury and Chronic Disease Drive Research , Clinical Adoption ? (2013) (1)
Point-of-Care Reaches a Crossroads (2014) (1)
Abstract 2492: Integrated genomics on molecular subgroups in medulloblastoma (2012) (1)
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Electronic family health history records draw attention (2012) (1)
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Brain morphometry driven by DTI data in Moebius Syndrome and Hereditary Congenital Facial Paresis (2016) (1)
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Up or Down: Chroma Medicine Raises Stakes in Epigenetic Editing (2023) (1)
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SHORT COMMUNICATION Localization of a Human T-Cell-Specific Gene, RANTES (D17S136E), to Chromosome 17ql1.2-q12 (1990) (1)
Identification and analysis of functional elements in 1 % of the human genome by the ENCODE pilot project The ENCODE Project Consortium * (2007) (1)
ASCB 50TH ANNIVERSARY ESSAY Change, Change, Change: Heeding the Call (2010) (1)
Multiple Endocrine Neoplasia Type 1 : Clinical and Genetic Topics Moderator : (2009) (1)
1946-1948: Another Tragic History Lesson Intentional Infection of Vulnerable Populations in (2010) (1)
Alan Lopez: making everyone count (2015) (1)
Everyone should watch glycosated hemoglobin and blood sugar levels, not just diabetics, research says. (2004) (1)
Somatic mosaicism in parents may cause single‐gene disorders in children (2014) (1)
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Microdissection and microcloning of chromosomal alterations in human breast cancer (1995) (1)
Gene Test Boom Faces Lawsuits (2013) (1)
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution (2019) (1)
Joseph Lau: mastering the meta-analysis (2012) (1)
Kathryn Maitland: asking the difficult questions (2017) (1)
Prevnar's cost creates treatment disparity. (2003) (1)
The Religion of Science: The Largest Remaining Frontier Can an Evangelical Believe in Evolution? The Testimony of Today's Most Prominent Evangelical Scientist (2003) (1)
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Respiratory diseases advocate living with severe asthma. (2022) (1)
Frédéric Amant: leading the agenda on cancer in pregnancy (2012) (1)
Gag clause prevents discussion of assisted dying in Victoria, Australia. (2020) (1)
Confronting a rare ovarian cancer during lockdown. (2020) (1)
Profile: The Liggins Institute, New Zealand (2015) (1)
Unlucky 13: Top Clinical Trial Failures of 2017 (2018) (1)
Moving the boundaries of international collaboration on clinical trials and QoL: experiences in oncology and legislation within the European Parliament (2013) (1)
Diabetics fare well in surgery, study says. (2002) (1)
Personalized medicine presents challenges and opportunities (2010) (1)
Canberra Government to demolish asbestos-contaminated homes. (2014) (1)
Jim Bishop: The Chief Medical Officer of Australia (2010) (1)
Uterine fibroid embolization fares well against hysterectomy, study says. (2002) (1)
Human pancreatic islet microRNAs implicated in diabetes and related traits by large-scale genetic analysis (2022) (1)
A Fusion Between Transcription Factor Cbf-Beta-Pebp2-Beta and a Myosin Heavy-Chain Is Generated by the Chromosome-16 Inversion in Acute Myelomonocytic Leukemia M4eo (1993) (1)
Postpartum home nurse visits improve infant health, reduce costs, report says. (2004) (1)
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)
DECIPHERING TH CODE OF LIFE (1999) (0)
Science Magazine: Transforming Environmental Health Protection (2011) (0)
Genetic pioneer eager for NIH challenge. Interview by Deborah Levenson. (2009) (0)
Molecular Diagnosis and Monitoring in Aml with Inversion 16 (inv16) (1993) (0)
Kan Cao Clearance in Hutchinson-Gilford Progeria Syndrome Cells Rapamycin Reverses Cellular Phenotypes and Enhances Mutant Protein (2011) (0)
A transcriptional regulatory atlas of human pancreatic islets reveals non-coding functional signatures at GWAS loci (2020) (0)
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Mechanisms of familial breast cancer causation (1995) (0)
Public Health and the Mission of the NIH (2015) (0)
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Genome-Wide Association Identi ﬁ es Nine Common Variants Associated With Fasting Proinsulin Levels and Provides New Insights Into the Pathophysiology of Type 2 Diabetes (2011) (0)
How Vitamin D Metabolism Affects Autoimmune and Inflammatory Diseases (2013) (0)
Round-Table - the Human Genome Project (1993) (0)
7th Biennial Symposium on Minorities, the Medically Underserved and Cancer (2001) (0)
16 defines the critical fusion for leukemogenesis Molecular characterization of 16p deletions associated with inversion (2011) (0)
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Functional analysis of GCKR mutations identified in subjects with hypertriglyceridaemia demonstrates the inherent challenges in clinical interpretation of rare variants (2012) (0)
Comment: Funding science research as a sustained enterprise (2009) (0)
Edinburgh Research Explorer Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes (2018) (0)
Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251]. (1990) (0)
DEFINITION OF THE PHYSICAL AND GENETIC LIMITS OF THE HUNTINGTONS-DISEASE GENE CANDIDATE REGION AND PROGRESS TOWARDS ITS ISOLATION AS A YAC CONTIG (1991) (0)
Gene Expression Modules Associated With Allergen-Induced Airway Inflammation In Mice (2012) (0)
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National Institutes of Health Names New Director (2009) (0)
Insights into glucokinase regulatory protein regulation from the cellular and kinetic characterisation of rare coding variants (2010) (0)
Antibody-Driven Proximity Labeling in Fixed Tissues. (2019) (0)
Same-Sex Attraction and Youth Homosexuality is not a genetically-determined , unchangeable trait (2012) (0)
Localization of the H u m a n Homolog of the Yeast Cell Division Control 27 Gene ( CDC 27 ) Proximal to ITGB 3 on H u m a n Chromosome 17 q 21 . 3 (2005) (0)
Is Genomics the Cure for Disparities? Francis S. Collins, M.D., Ph.D., National Leadership Summit to Eliminate Racial and Ethnic Disparities in Health, January 10, 2006: (535672012-001) (2006) (0)
A user's guide to the human genome (2003) (0)
Cultivating a Demand for Clean Cookstoves—Response (2011) (0)
Characterization of an Intron 12 Splice Donor Conductance guPator (CF tation in the Cystic Fibrosis Transmembrane (1992) (0)
TheGeneforthecaSubunit ofHuman GuanineNucleotide Binding Protein Mapsnear theCystic Fibrosis Locus (1988) (0)
Genomics, cancer and health disparities (2007) (0)
Discovering Genes That Cause Disease (1997) (0)
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Signatures in Humans Heritable Individual-Specific and Allele-Specific Chromatin (2011) (0)
High-Profile Media Coverage Reaches Diverse Audiences (0)
Nuclear proteins which bind the human gamma-globin gene. (1989) (0)
A Drosophila functional evaluation of candidates from human genome-wide association studies of type 2 diabetes and related metabolic traits identifies tissue-specific roles for dHHEX (2013) (0)
Cloning at a Distance with a Circularization Technique (1985) (0)
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Hip, hip, array: imagining genomics in the next millenium (1999) (0)
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NIH's Intramural Center for Regenerative Medicine (2012) (0)
The Next Phase of Human Gene-Therapy Oversight. (2019) (0)
Abstract MP63: Fine-mapping and Characterization of Adiponectin Gwas Loci Harboring Extensive Allelic Heterogeneity (2018) (0)
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FineStructure DNA Mapping Studies oftheChromosomal Region Harboring theGenetic Defect in Neurofibromatosis TypeI (1989) (0)
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Identification of a CFTR frameshift mutation (1013 delAA) in trans to delta F508 in a pancreatic sufficient cystic fibrosis patient. (1994) (0)
Partnering and functioning of the MEN1 tumour suppressor gene (2004) (0)
Lipid Oil red O Macrophages CD 68 Hyaluronan Receptor CD 44 Hyaluronan HABP HG 001-RCA (2010) (0)
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Biopharmaceutical sector performance, 2nd quarter 2000 (2000) (0)
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407-2 Characterization of a Recombination Event Excluding the Harvey-ras-1 (H-ras-1) Locus in a Romano-Ward Long QT Syndrome Family Linked to Chromosome 11p15 and Isolation of a Polymorphic Repeat Telomeric to H-ras-1 (1994) (0)
Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251] (1990) (0)
25-OR: Investigating a Candidate Causal Allele in Type 2 Diabetes Susceptibility Gene PAM as a Cause of Neonatal Diabetes Mellitus (2019) (0)
Progress towards identifying the neur 0-fibr 0 mat 0 sis ( NF 1 ) gene (0)
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Progerin expression in human skin. (2013) (0)
Genetic Susceptibility To Allergen-Induced Airway Inflammation In Mice (2011) (0)
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Table 3. [Progeroid Laminopathy: Causative Allelic Variants and Clinical Features Compared to HGPS]. (2015) (0)
Who Defines " Healthy " ? Ethical Dilemmas Across Competing Interest Groups On Genetic Manipulation And Gene Patents (2018) (0)
Erratum: Global epigenomic analysis of primary human pancreatic islets provides insights into type 2 diabetes susceptibility loci (Cell Metabolism (2010) 12 (443-455)) (2010) (0)
Lipid loci with multiple signals in Europeans. (2013) (0)
Sequester Impact on Biomedical Research (2013) (0)
Abstract 3950: Bone Marrow Progenitor Cells Repair the Endothelium Overlying Sites of Damaged Smooth Muscle Cells in the Ascending Aorta in a Mouse Model of Progeria (2008) (0)
Comparative Genomic Analysis of the 5′-Upstream Sequences of von Willebrand Factor and 27 Other Endothelial-Specific Genes Identifies Conserved Noncoding Sequences That Are DNase Hypersensitive. (2005) (0)
HRCA-I gene mutation is commonly identified among women with early-onset breast cancer and is particularly common in Jewish women (1996) (0)
Karen Rothenberg’s (Not So) Secret Roles and Contributions at the U.S. National Institutes of Health (2020) (0)
Identification of Genetic Loci in Mice That Mediate Allergen-Induced Airway Hyperresponsiveness, Inflammation, and Serum IgG1 (2012) (0)
Table 2. [Summary of Molecular Genetic Testing Used in Hutchinson-Gilford Progeria Syndrome]. (2015) (0)
Further exclusion data for the Von Recklinghausen neurofibromatosis gene : a genetic linkage study of 19 polymorphic markers (0)
Motif signatures in stretch enhancers are enriched for disease-associated genetic variants (2015) (0)
Trans-ancestry Fine Mapping and Molecular Assays Identify Regulatory Variants at the ANGPTL 8 HDLC GWAS Locus Cannon (0)
Research Realizing the Promise of Genomics in Biomedical (2009) (0)
Mierodisseetion and mieroeloning of chromosomal breast cancer alterations in human (1995) (0)
8:30 am OPEN SESSION: Welcome and NIH Director's Report (2014) (0)
Table 4. [LMNA Pathogenic Variants Discussed in This GeneReview]. (2015) (0)
BoostMe accurately predicts DNA methylation values in whole-genome bisulfite sequencing of multiple human tissues (2018) (0)
The human genome project and the future of oncology (1996) (0)
Keryn Christiansen: a household name in microbiology (2011) (0)
Brett Thombs: an unconventional journey (2023) (0)
Brendan Crabb—making research work for development (2016) (0)
Rosanna Peeling-prioritising diagnostics worldwide. (2020) (0)
Diabetes UK Professional Meeting. (2013) (0)
Iris Sommer-unravelling biological mechanisms of psychiatric disorders. (2020) (0)
Matthew Kiernan: bringing hope to patients with ALS (2013) (0)
Fiona Fox (2009) (0)
Alan Magill--aiming for a malaria-free world. (2015) (0)
New agency to tackle cancer in Indigenous Australians (2013) (0)
Roberto Ferrari: outgoing ESC President and dynamic cardiologist (2010) (0)
Cancer and SocietyGeneRun (2013) (0)
Janet Hemingway: director of the LSTM. (2016) (0)
Katie Allen: three careers in one. (2019) (0)
Lung cancer diagnosis can affect the whole family. (2020) (0)
Australia marks 40 years since its first diagnoses of HIV. (2022) (0)
Glenn Marshall: lynchpin for research in paediatric cancer (2013) (0)
Jennifer Furin-campaigning for social justice in tuberculosis. (2022) (0)
BT Slingsby: driving forward innovation in global health. (2015) (0)
Susan Buchbinder: driving HIV prevention efforts worldwide (2018) (0)
Lakshmi Yatham: unravelling the biology of bipolar disorder. (2021) (0)
Patrick McGorry. (2014) (0)
Highlights from the 9th International Early Psychosis Conference, Tokyo, Japan. (2015) (0)
10 years on—high-risk practices on the London gay scene (2023) (0)
Simon Hay: mapping the world's ills. (2017) (0)
Before I kick the bucket: the whole story. (2016) (0)
Cervical screening rates lower in HPV-vaccinated women (2014) (0)
Giada Sebastiani: a leading voice on liver fibrosis. (2022) (0)
Nina Chanishvili-keeping bacteriophages in the limelight. (2021) (0)
Australia rocked by Medicare fraud and wastage allegations (2022) (0)
Mario Raviglione—resolute Director of WHO's Stop TB Department (2010) (0)
Helen Herrman: president elect of the World Psychiatric Association. (2015) (0)
Mary Robertson: unravelling Tourette's syndrome. (2015) (0)
Helen Marshall. (2020) (0)
Alison Galvani—a modeller whose career has flourished early (2020) (0)
Annelies Zinkernagel-Current ESCMID President. (2023) (0)
Emily Stone—from lung cancer screening to tobacco control (2023) (0)
Maria Rodríguez-Oroz: leading the research to prevent cognitive decline in Parkinson's disease (2021) (0)
Heavily polluted cities attempt to curb traffic emissions. (2016) (0)
Nutrient labelling: legislating against too much information? (2016) (0)
Delivering health services in the community for the community (2023) (0)
Three in five over 50s receiving late HIV diagnoses in the UK. (2020) (0)
Jane Hocking: an expert of the nether regions. (2019) (0)
Mariëlle Pijnenburg: solving the puzzle of asthma. (2020) (0)
David Burke: unravelling motor control and axonal excitability (2015) (0)
Profile: The Barcelona Institute for Global Health (2014) (0)
mRNA vaccine technology for a multivalent flu vaccine (2023) (0)
Mitchell Elkind—soon to lead the American Heart Association (2020) (0)
Clare Fowler: establishing the subspecialty of uro-neurology (2015) (0)
Wolfgang Preiser—co-discoverer of SARS-CoV-2 variants (2022) (0)
Kerin O'Dea: improving the health of Indigenous Australians (2012) (0)
Sheena McCormack: helping to prepare the world for PrEP (2015) (0)
Fanny Ko-one of Asia's leading researchers on COPD and asthma. (2023) (0)
Kanta Subbarao—confronting influenza and COVID-19 (2022) (0)
Marta Lado-Ebola, HIV, sexual health and more. (2021) (0)
William Klunk: imaging Alzheimer's disease in vivo (2015) (0)
Makeda Semret-connecting two worlds in AMR. (2022) (0)
When should the UK lift its lockdown? (2021) (0)
Evan Wood—bringing change to addiction medicine (2015) (0)
Feng-Cai Zhu: leading vaccine evaluation in China (2015) (0)
Eric Reiman: aiming to prevent Alzheimer's disease (2017) (0)
Mechthild Prinz: using DNA to identify the victims of 9/11 (2011) (0)
Anna Peeters: President of ANZOS. (2013) (0)
Austria bans smoking in bars and restaurants. (2019) (0)
Sameer Jauhar-pioneering PET research in the affective psychoses. (2023) (0)
Profile: CCIA—teaming up to target paediatric cancer (2013) (0)
Sophia Zoungas: clinician, researcher, and full-time mum. (2019) (0)
25 years later: the revival of Angels in America (2018) (0)
Michelle Riba-helping emotional issues in chronic diseases. (2017) (0)
Will plain packaging spell the end of tobacco marketing (2012) (0)
Barbara Franke-unravelling ADHD's biology. (2020) (0)
Vania Hungria—treating myeloma with restricted resources (2020) (0)
Orrin Devinsky: breaking through treatment-resistant epilepsy (2016) (0)
Harry T Orr: decoding spinocerebellar ataxias (2019) (0)
Catherine Lubetzki—expert on remyelination in multiple sclerosis (2020) (0)
Ingrid Scheffer: improving patient outcomes in epilepsy (2019) (0)
Sophie Uyoga–reducing sickle cell stigma in Africa (2020) (0)
Lorna Brookes: helping children of imprisoned parents. (2018) (0)
Remote monitoring for patient with idiopathic pulmonary fibrosis. (2022) (0)
Children's cancer drugs cut into Australian hospital budgets. (2014) (0)
Buddha Basnyat-tackling typhoid and other infections in Nepal. (2023) (0)
Adenotonsillectomy improves asthma outcomes in children (2014) (0)
Profile: South Africa's Emavundleni Research Centre for HIV (2014) (0)
Hypertension screening. (1974) (0)
A cinematic exploration of technology and the brain (2022) (0)
Has Spain reached herd immunity? (2021) (0)
Jared Baeten-aiming to see off HIV. (2017) (0)
Arjen Dondorp—eliminating malaria in southeast Asia (2022) (0)
Elisa Estenssoro: a career devoted to critical care (2021) (0)
Stephen Waxman: pioneer in axons, their disorders, and pain (2019) (0)
Marlies Wijsenbeek—advocating home monitoring in ILD (2022) (0)
Cecilia Guillermo-leading Uruguay's battle against haematological diseases. (2022) (0)
Natasha Azzopardi-Muscat: promoting public health in Malta (2018) (0)
Shubulade Smith: seeing the bigger picture. (2016) (0)
Kogie Naidoo-when one condition leads to another. (2023) (0)
Francine Ntoumi-building research capacity and encouraging female African researchers. (2022) (0)
Alimuddin Zumla: infectious diseases guru and survivor. (2013) (0)
UK Government announces contaminated blood inquiry. (2017) (0)
Tristan's story (2012) (0)
Pamela Collins-driving forward global mental health. (2020) (0)
Kelsey Hegarty: calling attention to domestic violence (2019) (0)
Do vaping adverts threaten tobacco control progress in the UK? (2015) (0)
Van-Mai Cao-Lormeau-putting Pacific Islands on the map. (2021) (0)
Tonsillectomy for paediatric obstructive sleep apnoea (2014) (0)
Rebecca Ivers: driving down the toll of injury (2011) (0)
Chen Saijuan: from textile mill worker to haematologist. (2021) (0)
Marking 30 years since Australia's first HIV diagnosis (2013) (0)
Rani Bang-leader in women's reproductive health. (2021) (0)
Bruce Ransom: energy, inspiration, and curiosity (2018) (0)
Living with severe asthma as a teenager. (2022) (0)
Mario Poljak - Central Europe's pioneer in diagnostics. (2021) (0)
Evelina Tacconelli—two viruses, two wars (2020) (0)
Henrik Zetterberg: biomarking neurological disorders (2017) (0)
Annelies Wilder-Smith. (2020) (0)
Ian Anderson: transforming Indigenous medicine and education (2015) (0)
Claudi Bockting: preventing common mental health conditions (2021) (0)
Positive Impact Health Centres-Atlanta, GA, USA. (2020) (0)
Philippa Musoke—stop mother-to-child HIV transmission (2021) (0)
Philip B Gorelick: changing neurological practice in the USA (2016) (0)
Ruvandhi Nathavitharana: advancing TB diagnostics and advocacy (2023) (0)
Trevor Mundel: President of the Gates' Foundation Global Health Division. (2017) (0)
Anatoli Kamali: spearheading HIV prevention in Africa (2014) (0)
Jane Pirkis: analysing and improving mental health in Australia. (2014) (0)
Australia's respiratory health in focus. (2017) (0)
Eric Goosby: the UN special envoy for tuberculosis. (2015) (0)
V Wee Yong: a journey of rediscovery (2021) (0)
Matthew Peters: an accidental advocate of tobacco control. (2013) (0)
Patrick Maxwell: leader of medicine at Cambridge University (2013) (0)
David Cooper: Australia's fighter against HIV and discrimination (2016) (0)
Francis Collins: Director of the US National Institutes of Health (2009) (0)
Simon Shorvon: shining the spotlight on epilepsy (2011) (0)
Marshall Lightowlers: tackling parasitic diseases (2014) (0)
Living with severe asthma since childhood. (2021) (0)
Michael Breakspear: using imaging to unravel psychiatric mysteries. (2018) (0)
Stephen Davis: realising the potential of imaging in stroke care (2012) (0)
Profile: Burnet Institute, Melbourne, Australia (2016) (0)
Susan Kahn-a long-term look at thrombosis. (2023) (0)
Obituary-Patrick Sissons. (2017) (0)
Jane Carter: at the frontline of tuberculosis care. (2013) (0)
Ioana-Alina Cristea: from psychologist to meta-researcher. (2021) (0)
Flavia Machado-a Latin American leader in sepsis. (2023) (0)
Soumya Swaminathan: WHO Chief Scientist and passionate advocate of mental health (2021) (0)
Australia considers string of preventive health measures The Australian Government is poised to introduce several hard-hitting public health measures to tackle the country's spiralling smoking, alcohol, and obesity problems. Tony Kirby reports. (2009) (0)
Robert van Voren: transforming psychiatry in former Soviet states. (2023) (0)
Peter Fonagy-battling the enemy of loneliness. (2019) (0)
Ending HIV in the UK. (2022) (0)
Luciano Moreira-battling arboviral diseases with 'wolbitos'. (2023) (0)
Images from conflict zones (2012) (0)
Funding: Wellcome Trust selects sustainable health projects (2014) (0)
Nigel Unwin: battling non-communicable diseases. (2015) (0)
Costs of tuberculosis in Europe. (2013) (0)
Anthony Fauci: moving on (2022) (0)
David Stuart (2022) (0)
Tom Bird: one of the world's first experts in neurogenetics (2018) (0)
Unaiza Niaz-touching every corner of psychiatry. (2016) (0)
A vaccine for meningococcal B disease and gonorrhoea. (2020) (0)
Merete Nordentoft: intervening early in mental illness. (2015) (0)
Alemka Markotić—from hantavirus to COVID-19 (2023) (0)
Akiko Iwasaki-aiming at making vaccines better. (2021) (0)
Tom Gottlieb: a genuine infectious diseases all-rounder. (2012) (0)
Raina MacIntyre-expert in infectious disease outbreaks. (2021) (0)
Elizabeth Elliott: champion of child health in Australia (2012) (0)
Helena Teede: driving collaboration and impact. (2020) (0)
Jacqueline Deen-taking the fight to paediatric diseases globally. (2023) (0)
Philip Morris ejected from Canadian vaccine collaboration (2023) (0)
Discovery of lung cancer after an injury on holiday. (2020) (0)
Laura Hammitt-prioritising Native American health. (2022) (0)
Elaine Rush: champion of physical activity and nutrition. (2015) (0)
WHO reports decrease in men who use tobacco. (2020) (0)
EU variation in implementation of tobacco control treaty. (2013) (0)
UK aims to end trauma of out of area acute mental health admissions (2016) (0)
Giuseppe Remuzzi—a pioneer in nephrology (2010) (0)
Anete Trajman-tackling latent tuberculosis. (2021) (0)
Jennifer Keiser-Improving treatment of helminth infections. (2021) (0)
Paul Harrison—investigating the psychiatric sequelae of COVID-19 (2022) (0)
Andrew Grace: tackling the rising tide of arrhythmia (2012) (0)
Anita Zaidi (2020) (0)
Flu epidemic rages across the USA. (2015) (0)
The Kirby Institute-ending HIV transmission in Australia. (2022) (0)
Fernando Cendes: targeting epilepsy by improving neuroimaging (2019) (0)
Heather Zar—improving lung health for children in Africa (2010) (0)
Tony Capon: the world's first professor of planetary health (2018) (0)
Anthony Fauci: fighting HIV/AIDS from the beginning (2019) (0)
Engineer with COPD embraces trial participation. (2022) (0)
Dimie Ogoina-Nigeria's expert in mpox. (2023) (0)
Ximena Aguilera-guiding pandemic preparedness in Chile. (2022) (0)
Surviving sepsis with multiple serious complications. (2023) (0)
Tom Potokar—helping burns climb up the international agenda (2016) (0)
Matthias Egger: a man with a method. (2019) (0)
Patient collaboration in COVID-19 research: translating ideas to reality (2022) (0)
Andrew Engel: 50 years of neuromuscular disorder research (2015) (0)
Ruby Castilla-Puentes: leading advocate for Hispanic psychiatry. (2022) (0)
Docetaxel pricing threatens Australian chemotherapy services (2013) (0)
Tien Yin Wong: tackling the rising burden of diabetic retinopathy (2011) (0)
The United Kingdom's broken promises on health (2013) (0)
BCN Checkpoint—sexual health services in Barcelona (2022) (0)
Fergus Cameron: getting the big picture in childhood diabetes (2015) (0)
Catherine Karr: improving paediatric respiratory health (2018) (0)
Paul Ridker: reaching the end game (2012) (0)
Sanjay Ramakrishnan—several lucky turns to arrive at COPD (2023) (0)
Highlights of the 44th union world conference on lung health. (2013) (0)
Prescription for e-cigs in the UK. (2021) (0)
Janet Wilson: keeping the spotlight on sexual health (2014) (0)
Let no hope for diabetes cure go to waste (interview with Prof. Dr Willem M. de Vos) (2010) (0)
Lynn Morris: the continuing quest for an HIV vaccine. (2017) (0)
Cheryl Jones: cracking mysteries in paediatric infection. (2013) (0)
Mainline-confronting chemsex in the Netherlands. (2022) (0)
UK HIV transmission drops in the wake of COVID-19 (2023) (0)
Beate Kampmann-driving global vaccine science. (2021) (0)
Michael Krausz: psychiatry for the most vulnerable. (2015) (0)
Real-time responses to severe influenza outbreaks. (2013) (0)
Dennis Shanks: creating new answers from old data. (2014) (0)
Nick Fox: aiming to prevent Alzheimer's disease (2012) (0)
Fetal genome sequenced from parents' blood samples (2011) (0)
The AJMG SEQUENCE: Decoding news and trends for the medical genetics community (2009) (0)
Flu treatment for the elderly makes economic sense, study says. (2003) (0)
Guidelines on pain control in seniors favor certain NSAIDs and strategies for the cognitively impaired. (2002) (0)
Not-for-profit dialysis center care carries lower mortality risk, study says. (2002) (0)
Risk of receiving poor health care is significant in all parts of the United States. (2004) (0)
Breast cancer deaths almost halved after mammograms, study says. (2003) (0)
Recent patient death spurs MRI safety alert. (2001) (0)
Then and now: Past Opitz winners discuss the influence of the award on their careers (2011) (0)
Primary care errors more frequently result from administrative problems than clinical ones, study finds. (2002) (0)
Benchmarking project spurs better guideline adherence. (2001) (0)
Congestive heart failure management program honored for outcomes, cost savings. (2001) (0)
Hospital compliance with its safety recommendations is low, group says. (2002) (0)
Cystic fibrosis screening recommended for all women (2011) (0)
Experts confirm statins' safety but advise caution with certain patients. (2002) (0)
Benefits of genomic sequencing evident in pediatric diagnoses (2015) (0)
Study boosts argument for beta-blockers after heart surgery. (2002) (0)
In this issue (2010) (0)
Next‐generation sequence testing expands research into causes of hearing loss (2014) (0)
Preparation period for post-thyroid cancer surgery test can be shorter, study says. (2004) (0)
FDA Panel Delays Changes to Concerta Label (2005) (0)
Guidelines encourage early recognition and care of Alzheimer's disease. (2001) (0)
Sexually transmitted disease guidelines focus on prevention. (2002) (0)
Study shows sharp rise in U.S. hypertension rate. (2004) (0)
HEDIS score reporting in late 1990s was ineffective, study says. (2002) (0)
Large study links nurse staffing and improved hospital outcomes. (2001) (0)
DEA's flip-flop on prescribing fuels concern (2005) (0)
Changes to ADHD Label Can Wait (2005) (0)
Diabetics' high blood pressure is often undertreated, study says. (2002) (0)
Gap in drug coverage often causes lapses in adherence to drug regimen, study shows. (2004) (0)
Adults with asthma aren't getting flu shots. (2003) (0)
Study explores case for routine prenatal and pre-pregnancy thyroid screening. (2004) (0)
HHS recommends pulse oximetry for newborns (2012) (0)
In this issue (2010) (0)
Small study yields big results for whole genome sequencing in autism diagnosis: Geneticists optimistic that findings could aid with early identification of disorder (2013) (0)
Vaccine could help fight deadly hospital-acquired infections. (2002) (0)
Ready or Not, Feds Push Nationwide Health IT Forward (2005) (0)
Statin helps heart failure patients without high cholesterol. (2003) (0)
Autopsies still detect important errors. (2003) (0)
New test catches most Turner syndrome cases (2011) (0)
Elderly patients often get drugs they shouldn't, study says. (2004) (0)
The AJMG SEQUENCE: Decoding news and trends for the medical genetics community (2009) (0)
In this issue (2010) (0)
Having more ICU nurses saves money, study finds. (2001) (0)
Antibiotics unnecessary for most respiratory infections. (2001) (0)
New national vaccine purchase and distribution system needed, report says. (2003) (0)
Guidelines: more patients should get lipid screenings. (2001) (0)
Delirium treatment model departs from conventional practices. (2003) (0)
FDA Panel: Delay Safety Changes to Concerta Label (2005) (0)
A next generation sequencing test (2011) (0)
Report on epoetin use in oncology is precursor to guidelines. (2001) (0)
Study reaffirms autopsy's value but not a specific role in measuring performance. (2003) (0)
Government task force stresses education to promote breastfeeding. (2003) (0)
Feds Push Nationwide Electronic Record System Forward (2005) (0)
Prenatal peptide treatment appears promising in Down syndrome mouse model (2013) (0)
Department of justice opposes patents on isolated genes (2011) (0)
Aspirin cuts return of precursor to colorectal cancer. (2003) (0)
Case about medical patents makes its way to U.S. Supreme Court (2012) (0)
The AJMG SEQUENCE: Decoding news and trends for the medical genetics community (2009) (0)
Draft recommendations suggest HHS exempt gene patents from infringement liability (2010) (0)
Heart attack and stroke prevention guidelines emphasize lifestyle factors. (2002) (0)
Study questions colorectal and prostate cancer screening priorities. (2003) (0)
Diabetes management program reduces spending. (2001) (0)
The AJMG SEQUENCE: Decoding news and trends for the medical genetics community (2009) (0)
More accurate Down syndrome screening test hits the market (2012) (0)
The AJMG SEQUENCE: Decoding news and trends for the medical genetics community (2009) (0)
The AJMG SEQUENCE: Decoding news and trends for the medical genetics community (2009) (0)
Clot-busting drugs linked to increased mortality in the very elderly. (2002) (0)
Updated guidelines support even lower cholesterol levels for at-risk patients. (2004) (0)
Safety lapses in kids' hospital care cost $1 billion, according to estimate. (2004) (0)
Study finds wide disparities in quality of hospital care. (2003) (0)
Software helps reduce adverse events and determine financial costs. (2001) (0)
Outpatient cardiology care improves survival odds after heart attack. (2002) (0)
Several hospital traits linked to two pneumonia care quality indicators. (2002) (0)
More African American genetic counselors needed (2010) (0)
Should 22q11 deletion be added to newborn screening panels? (2011) (0)
C-section guidelines offer benchmarks, easier rate standardization. (2000) (0)
Safety of some surgeries has not improved, study says. (2002) (0)
Pneumonia vaccine protocol could save money and lives. (2002) (0)
Is there a better way to get consent for bloodspot use? (2010) (0)
Electronic Health Records Spark Identifier Debate (2005) (0)
Vaccine doesn't lower pneumonia risk in the elderly. (2003) (0)
Costello syndrome community mourns New Zealand pediatrician (2011) (0)
Lack of recommended care called 'serious'. (2003) (0)
State administrative data can aid long‐term newborn follow‐up, researchers report (2011) (0)
Proposed web error reporting system could streamline data collection. (2001) (0)
Mammogram underuse concerns researchers. (2004) (0)
Reminders boost heart attack guideline compliance. (2003) (0)
Participants ask how to ensure the quality of care into the future. (2000) (0)
Lice treatment guidelines emphasize careful medication use. (2000) (0)
Study notes huge costs associated with Alzheimer's disease. (2002) (0)
Virtual colonoscopy isn't ready for widespread use, study says. (2004) (0)
Feds Push for National Electronic Record System (2005) (0)
Drug events may be more common in primary care than hospital patients. (2003) (0)
Tool may help nursing homes avoid risky pneumonia hospitalizations. (2001) (0)
Study validates quick blood test for heart failure. (2002) (0)
Pharmacy project cuts diabetes costs and improves outcomes. (2003) (0)
Study calls for earlier diabetes screening of overweight and minority patients. (2003) (0)
Failed depression CQI project yields important lessons. (2002) (0)
New combination treatment for hepatitis C is more beneficial than standard therapy, study says. (2002) (0)
Genetic cause of rare disease may be involved in more common birth defects (2011) (0)
Large study of hospital errors reveals great variation. (2003) (0)
Common genetic variants linked with large percentage of autism risk (2014) (0)
Drug mistakes are very common, study says. (2002) (0)
NEXT-GENERATION SEQUENCING MAY REDUCE COST AND WAIT TIME FOR SOME GENETIC DIAGNOSES (2013) (0)
Few U.S. breast surgeons do volume of operations associated with better results. (2004) (0)
Location of MECP2 mutation could affect Rett syndrome progression and severity (2013) (0)
Five diseases drive much of U.S. health spending rise. (2004) (0)
Study of prostate cancer prevention drug shows potential and problems. (2003) (0)
Guidelines on pediatric bronchiolitis length of stay and actual practice don't match, study says. (2002) (0)
Study finds hypertension incidence is rising. (2003) (0)
Tool helps predict heart surgery risk. (2001) (0)
Beware of new drugs, study suggests. (2002) (0)
Common drugs, used in combination, may pose risk. (2002) (0)
Following lifestyle guidelines cuts cancer risk study shows. (2004) (0)
23andme obtains permission to market bloom syndrome test (2015) (0)
Emergency department pediatric guidelines on absolute necessities. (2001) (0)
Safety experts offer strategies for pediatric drug error prevention. (2003) (0)
Diabetes management program focuses on primary care practices. (2004) (0)
Standards can help plans examine their care of frail elderly patients. (2001) (0)
Too much? Not enough? (2010) (0)
Protocol designed to identify often-overlooked problems in the elderly. (2002) (0)
Coronary disease guidelines recommend more use of certain drugs. (2001) (0)
Transferred patients hurt referral hospitals' quality ratings. (2003) (0)
Autism testing service includes telephone counseling (2012) (0)
Electronic health records are not ready for genetic information: demand for genetic capability to soar in 5-10 years, study predicts. (2009) (0)
Pharmacist-physician partnership reduces unwanted drug consequences. (2003) (0)
ACLU case against Myriad Genetics (2010) (0)
Diabetes screening strategy holds potential for early treatment, savings. (2002) (0)
Research delves into role of key proteins in fragile X syndrome (2015) (0)
Findings suggest revised atrial fibrillation approach. (2003) (0)
Feds Push for Electronic Health Record System (2005) (0)
IOM report: healthcare system shortchanges dying cancer patients. (2001) (0)
States stress newborn screening for home births: Initiatives emphasize education about the importance of bloodspot tests, hearing screens (2013) (0)
Cholesterol guidelines: physicians must determine risks more precisely. (2001) (0)
New tactics shorten hospital stays for prostate patients. (2001) (0)
Many elderly patients with chronic eye disease don't get recommended exams. (2003) (0)
Lung volume reduction surgery works for some, not all, study finds. (2003) (0)
Genetic modifier to chromatin may contribute to 22q11 deletion/VCF/DiGeorge syndrome variability (2012) (0)
Legal battle over BRCA1 and BRCA2 patents continues (2011) (0)
Program improves compliance with heart attack guidelines. (2002) (0)
Standards for high-risk surgeries would save lives, study says. (2004) (0)
Lung surgery patients' hospital stays reduced. (2001) (0)
Studies shed light on ambulatory surgery risks. (2002) (0)
Study highlights post-discharge adverse events. (2003) (0)
The AJMG SEQUENCE: Decoding news and trends for the medical genetics community (2009) (0)
Geneticists offer recommendations for sharing unexpected consanguinity findings with parents (2015) (0)
New medication recommended for Parkinson's disease. (2001) (0)
Study makes case for using treatment guidelines in early breast cancer. (2004) (0)
HHS ponders policy on bloodspot use and storage: HRSA advisory committee considers parental permission for research. (2009) (0)
SCID suggested for uniform newborn screening panel (2010) (0)
Inappropriate stroke prevention surgery is less common but still a problem. (2003) (0)
Depression program found more effective but more costly than usual care. (2001) (0)
Patient advocates as partners in genetic research (2014) (0)
Mortality rates are higher in Penn. hospitals with lower nurse staffing, study finds. (2002) (0)
Researchers use bloodspots to identify genetic hearing loss (2012) (0)
Organizations take aim at medical mistakes, get honors. (2000) (0)
ADHD guidelines address frequent childhood condition. (2001) (0)
Ritalin is okay for kids with both ADHD and Tourette's syndrome, study says. (2002) (0)
JCAHO issues call for action on nurse shortage and its effect on care quality. (2002) (0)
The AJMG SEQUENCE: Decoding news and trends for the medical genetics community (2009) (0)
Government task force suggests counseling for patients with diet-related diseases. (2003) (0)
Medicare quality improves but could be better, study says. (2003) (0)
Kids' asthma management program increases use of guideline-recommended drugs. (2002) (0)
Who should control genomic data? (2014) (0)
Hospital safety project aims to save thousands of lives (2005) (0)
Case marks evolution in antibiotic drug resistance. (2002) (0)
Medication safety guidelines offer minimum and best practice standards. (2001) (0)
End-of-life care models highlighted in report. (2000) (0)
Study questions interval for screening sigmoidoscopy. (2003) (0)
College athletes should get sickle cell trait tests, NCAA advises (2010) (0)
Treat children's chronic pain as distinct from adults', statement says. (2000) (0)
Suggestions made for reducing cardiac drug errors. (2002) (0)
Breast cancer drug shows promise for some survivors. (2003) (0)
New guidelines, research add to mammography controversy. (2002) (0)
The AJMG SEQUENCE: Decoding news and trends for the medical genetics community (2009) (0)
Diastolic dysfunction is common and worrisome, study shows. (2003) (0)
Reviews of hormone replacement therapy evidence support findings in recently halted trial. (2002) (0)
FDA proposes tighter regulation over genetic lab tests (2015) (0)
More Medicare spending doesn't bring better outcomes. (2003) (0)
Population screening beyond newborns (2010) (0)
Government cholesterol recommendations questioned. (2004) (0)
Use of problematic drugs is still common among the elderly. (2001) (0)
Are Single Patient Identifiers Key to EHR System?Some say a decentralized EHR system that can be accessed with multiple identifiers is more realistic. (2005) (0)
Is a Single Patient Identifier Key to EHR System (2005) (0)
ACOG approves new trisomy screen for high‐risk pregnancies (2013) (0)
Children with developmental delays rarely referred to geneticists (2016) (0)
Role of inherited variants in nonsyndromic heart defects confirmed (2016) (0)
Green Light Raises Red Flags: FDA, some experts at odds over agency's accelerated approval for Aduhelm, the Alzheimer's disease drug from Biogen and Eisai (2021) (0)
Vantari Genetics, Translational Software to Support Banner Alzheimer’s Institute’s GeneMatch Registry (2017) (0)
Graphite Bio Pauses Lead Gene Editing Program in Sickle Cell Disease. (2023) (0)
Running Up That Hill: Nessan Bermingham on Close to the Edge (2021) (0)
FDA Nominee Driven by “Data, Data, Data” (2015) (0)
Arms' Length: Bayer Sees Progress in Hands-Off R&D Approach (2022) (0)
StockWatch: After Bluebird's Second Approval, Investors Are Looking for More (2022) (0)
Looking Beyond Bioprocessing to China, eCommerce, New Tech, and Services (2019) (0)
Gene Therapy Briefs. (2019) (0)
Policy Makers Seek to Fortify Superbug Research (2012) (0)
Sangamo Advances Kidney Transplant Cell Therapy into the Clinic (2022) (0)
Report: Precision Medicine Moving into the Clinic, but Hurdles Remain (2017) (0)
From Pandemic to Pipeline: What's Next for Moderna? (2021) (0)
Waters' Edge: Renewal, Replacement Yield Early Results (2021) (0)
Wrangle Over DTC Results: Ambry Study Highlights 40% False Positives, 23andMe Defends Tests, and Experts Weigh In (2018) (0)
Patch Position: Vaxxas Licenses UT Austin Vaccine for Clinical Trials (2022) (0)
Signal Indications: Foghorn Targets Cancer with Up-to-$1.7B Lilly Partnership, and Looks Ahead (2021) (0)
Intranasal Anthrax Vaccine Candidate “Off to the Races” (2020) (0)
Making Politicians Out of Scientists (2014) (0)
One COVID-19 Shot, Two Approaches (2020) (0)
Medidata and Beyond: A Visit with Astronaut Glen de Vries (2021) (0)
Helen Sabzevari, PhD, of Precigen Connects Cancer and the Immune System on “Close to the Edge” (2021) (0)
Pursuing CRISPR Vision on Germline Editing (2016) (0)
Six of the Best Reports from the Front Line of Biotechnology (2021) (0)
ViaCyte's Sweet Three-Pronged Attack against Type 1 Diabetes (2021) (0)
Community Building: Interline Translating Protein Interactions into Treatments (2021) (0)
OXGENE Eyes Further Growth in Cell and Gene Therapy Services after Acquisition by WuXi AppTec (2021) (0)
Retail Engagement: Interpreta and higi Eye Healthcare ‘Roadmaps’ Using Patient Data Collected at Grocers, Pharmacies (2017) (0)
Opiant Eyes Q2 Launch for Pivotal Trial of Opioid Overdose Candidate Aimed at Fentanyl (2019) (0)
Gene Therapy Briefs. (2017) (0)
Thirty-Eight Special: George Church Pushes the Biotech Envelope (2022) (0)
StockWatch: Investors Sing as Madrigal Shares Quadruple on Phase III Win (2022) (0)
Buying Spree: Rebranded BICO Bets Big on “Bioconvergence” (2021) (0)
“GEN Edge Live”: Analyzing the Latest Milestones in Genome Editing (2021) (0)
Staying the Course: New CEO, Same Focus for Astellas Gene Therapies (2023) (0)
Signal Strength: Pleno's Multiomics Tools Apply Telecom Techniques (2022) (0)
This is Epic: Epigenomic CRISPR Startup Goes Big by Thinking Small (2022) (0)
StockWatch: Layoffs Fail to Lift Novartis (2022) (0)
Smoother Waters: Turnaround Pays Dividends in Q3 (2021) (0)
A Weightier Alternative: WuXi NextCODE’s FFPE Method Aims to Deliver Larger DNA Fragments at Lower Cost (2018) (0)
Intelligence Mission: Berg Finds a Buyer (2023) (0)
GE Healthcare, NIBRT Partner on Cell Therapy, Single-Use Bioprocessing (2019) (0)
Absci Pursues Google-Sized Ambitions in Drug Discovery, Manufacturing (2022) (0)
Lucky Seven: Septerna Seeks New Drug Leads in GPCRs (2022) (0)
At Inova, Precision Med Started with Baby Steps (2019) (0)
AGTC Sets Sights on Late-Stage Retinitis Pigmentosa Gene Therapy Trial (2020) (0)
GROWTH SIGNALS: Sema4 Navigates Precision Medicine with $500M SPAC Deal (2021) (0)
Beleaguered Bluebird's New CEO Charts Comeback Course with “Zero Distractions” (2021) (0)
Editas' Current and Future CEOs Discuss CMO Search, EDIT-101, and Growth (2022) (0)
Gene therapy briefs. (2014) (0)
Life Sciences Go Viral in Maryland (2020) (0)
Top 10 Ambition: Bayer Aims for $10 Billion in Cancer Drug Sales by 2030 (2023) (0)
Looking Beyond Cancer: Precision medicine poised for growth outside oncology, but reimbursement, acceptance remain hurdles (2019) (0)
Seven Up-and-Coming COVID-19 Drugs (2021) (0)
OncoCyte Launches NSCLC Stratification Test, Looks beyond Lung Cancer (2020) (0)
On the Map: Cartography Charts a Course for Precision Cancer Treatments (2022) (0)
StockWatch: Analysts Mixed on Illumina after Q4 Results, Delivery of First NovaSeq X Plus System (2023) (0)
Gene Therapy Pioneers Share Genome Editing Insights at Chardan Conference (2022) (0)
Bleeding Cut: CSL Behring Plans H1 Filings for Hemophilia B Gene Therapy (2022) (0)
Close to the Edge: Regeneron's George Yancopoulos and Aris Baras Discuss Company, COVID-19 (2021) (0)
Counselors Face a Balancing Act as Challenges Loom (2014) (0)
Partnerships, Pipelines, and Platforms (2021) (0)
StockWatch: Alnylam Basks in the Glow of Heart Drug's Phase III Success (2022) (0)
Top 10 Bioprocessing Companies (2018) (0)
FDA Approves Guardant Test as First Pan-Cancer Liquid Biopsy, CDx for AstraZeneca's Tagrisso (2020) (0)
Set Phase Separation to Stun (2020) (0)
Community Organizing Meets the Clinic (2014) (0)
Takeda Doubles Down on Gene Therapy with Poseida, Selecta Collaborations Totaling $4.7B. (2021) (0)
Introducing “Close to the Edge”: A Zoom Conversation with PacBio CEO Christian Henry (2021) (0)
StockWatch: Sierra Oncology Surges on $1.9B GSK Acquisition (2022) (0)
After Final Medicare LCD from Palmetto GBA, OncoCyte Pursues Private Coverage for NSCLC Stratification Test (2020) (0)
Chardan Analyst Assesses Genome Editing's Dazzling Potential, Stubborn Challenges (2022) (0)
StockWatch: Despite Approval in ALS, Amylyx Sees No Price Surge (2022) (0)
Pivotal Years: Abivax's Obefazimod Faces Phase III Test (2022) (0)
Gene Therapy Briefs. (2016) (0)
Aspen Neuroscience Pursues Autologous Cell Therapies for Parkinson's with $147.5M Series B (2022) (0)
Carl Icahn States His Case for Change at Illumina on “Close to the Edge” (2023) (0)
Mapping Function: Translating Adaptive Immune System Insights into Diagnostics and Drugs (2021) (0)
Doudna's Scribe Rewrites CRISPR Drug Development with $100 Million Series B (2021) (0)
Complementary Challenge: Apellis Throws Down the Gauntlet (2021) (0)
Bleeding Edge: Anthos Pursues a Monthly Anticoagulant (2021) (0)
A16z's Vijay Pande: Why Gene Editing Will Soon Be “Off to the Races” (2023) (0)
Next Generation: Growing Protein Therapeutics Developer Raises $370M (2021) (0)
Wide Shot: Jacob Glanville Pursues Broad-Spectrum Vaccines vs. Pandemics (2022) (0)
Bluebird Bio Spins Off Oncology and Doubles Down on Genetic Disease (2022) (0)
OliX Advancing in Nucleic Acid Therapeutics (2021) (0)
New Spark: Successor to Build on Work of Departing CEO Jeffrey Marrazzo (2022) (0)
New Labs, New Funds: Activity Blossoms within Leading U.S. Biopharma Clusters (2022) (0)
Mainstream Approach: Lunaphore Envisions Spatial Biology in Every Lab (2022) (0)
CareDx Adds Infectious Disease Focus to Transplant Diagnostics with IDbyDNA (2021) (0)
StockWatch: Analysts Sour on Roche after Alzheimer's Clinical Failure (2022) (0)
In Praise of Lesser-Sung Life Sciences Clusters (2020) (0)
Myriad Enters PARP Inhibitor CDx Collaboration with Clovis Oncology (2017) (0)
OXGENE Eyes Growth after Acquisition by WuXi AppTec (2021) (0)
Sarepta Duchenne Muscular Dystrophy Candidate Faces U.S. Food and Drug Administration Assay Request, Patent Suit. (2020) (0)
George Church, PhD, Recounts Decades of Research, 38 Companies on “Close to the Edge” (2021) (0)
Global Blood Therapeutics CEO Defends Price of Sickle-Cell Drug Oxbryta (2020) (0)
Beyond CRISPR: Precision Bio Lands Up-to-$1.5B Editing Deal with Novartis (2022) (0)
Waters Accelerates Expansion to Biologics QA/QC with Wyatt Acquisition (2023) (0)
Peripheral Vision: Cygnal Looks Beyond the CNS to Develop Drugs (2019) (0)
Icosavax: Giving VLPs the VIP Treatment (2021) (0)
AGTC Plans Pivotal Trial for XLRP Gene Therapy (2020) (0)
And Then There Were Four: VBI Scores First FDA Approval with Hepatitis B Vaccine (2021) (0)
Potholes Threaten Medical Marijuana (2012) (0)
Compliance Conundrum: Genomic Health Faces DoJ Investigation after CMS Changes Date of Service Regs (2018) (0)
Draper Aims High as a Kite against Cancer (2020) (0)
Jabbing at Alzheimer's: AC Immune Takes Precision Approach to Vaccines (2022) (0)
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StockWatch: Novavax Sinks with Revenue Forecast, Vaccine Demand (2022) (0)
Uncle Sam Casts Wary Eye on Clinical Lab Billing (2015) (0)
Gene therapy briefs. (2013) (0)
Panel Wrestles with WGS Ethics (2012) (0)
AGTC Proves a Durable Competitor in Gene Therapy for X-Linked Retinitis Pigmentosa (2021) (0)
venBio Writes New Chapter with $550M Fourth Fund (2021) (0)
StockWatch: Failed Trial Sinks NGM Bio; Will Merck Opt Into Eye Disorder Drug? (2022) (0)
With $125M More in Financing, Inscripta Ramps Up Expansion (2019) (0)
BioNTech Boosting Pipeline, Manufacturing, Global Presence with $325M in Series B Financing (2019) (0)
Going BIG: Daphne Zohar on “Close to the Edge” (2021) (0)
Into Orbit: Satellite Bio Raises $110M toward Tissue Therapeutics (2022) (0)
Gene Therapy Briefs. (2017) (0)
GenapSys Pursues Partnership with China CDC to Detect Coronavirus (2020) (0)
Amplification Litigation: Human Genome Project Leader Among Shareholders in Legal Wrangle Over Milestones for PCR Alternative (2019) (0)
Gene Therapy Briefs. (2019) (0)
Price Pinch: As PAMA Reporting Deadline Looms, Labs Brace for Medicare Rate Cuts (2017) (0)
Anzalone Prime: An Interview with Prime Editing Developer Andrew Anzalone (2023) (0)
Cytiva Plans $500M Expansion, 1,000 New Hires Worldwide (2020) (0)
StockWatch: Investors Unfazed by Biogen CEO Search, Aduhelm Cutbacks (2022) (0)
The Broad, Dana-Farber Launch Prostate Cancer Data Project (2018) (0)
Biogen Shares Surge after Reversal on Alzheimer's Candidate Aducanumab (2019) (0)
Clinical Laboratory, Meet Molecular Diagnostics (2014) (0)
Cloud Cover: Benchling Expands into Early Development (2021) (0)
Gene therapy briefs. (2012) (0)
Lineage 2.0: Cell Therapy Developer Eyes Next Phase after Genentech Collaboration for Dry AMD (2022) (0)
Process Improvements Doom Novartis' Longmont, CO, Plant. (2021) (0)
Bringing Informed Interpretation to Vexing Variants (2014) (0)
At Laboratory for Advanced Medicine, New CEO Sharpens Commercial Focus (2020) (0)
uniQure, CSL Behring Launch $2B Hemophilia B Partnership. (2021) (0)
StockWatch: Investors Embrace Geron's Comeback Story (2023) (0)
GRO-ing the Alphabet: George Church Spinout Engineers Bespoke Protein Therapeutics (2021) (0)
8 Companion Diagnostic Developers Making a Mark (2019) (0)
Global Bioclusters Vie for Dominance in Battle Royale (2012) (0)
Thermo Fisher's Brammer Bio Completing $100M in Expansion Projects (2019) (0)
Genetic discrimination: actuarial aspects. (1995) (0)
Response : Colon Cancer Screening (1994) (0)
Response : Type 1 Neurofibromatosis Gene: Correction (1990) (0)
Power to the people (2002) (0)
[Book Reviews] (0)
Keeping up Africa’s science momentum (2019) (0)
Books in brief (2011) (0)
Merck scores victory in three Vioxx appeals (2008) (0)
US genomics leader bows out from institute (2008) (0)
Power to the people. A User's Guide to the Human Genome. Foreward. (2003) (0)
NIH supports call for moratorium on clinical uses of germline gene editing (2019) (0)
Fibrosis quistica . Biologia molecular e implicaciones terapeuticas (1995) (0)
El genoma del cáncer (2007) (0)
Collins, Francis S. ¿Cómo habla Dios? La evidencia científica de la fe (2011) (0)
El código de la vida, descifrado (2000) (0)
A Review of Health Management Information System in Akuapim South District of Eastern Region of Ghana (1999) (0)
A conversation with Francis Collins. Interview by Ushma S. Neill. (2012) (0)
Francis Collins: Reflections on being the NIH Director (2022) (0)
Francis S. Collins (2004) (0)
The Registers and Monumental Inscriptions of Charterhouse Chapel (2009) (0)
Wills & administrations from the Knaresborough court rolls (2009) (0)
The registers of St. Michael le Belfrey, York (0)
In the crossfire: Collins on genomes, patents, and 'rivalry'. Interview by Eliot Marshall, Elizabeth Pennisi, and Leslie Roberts. (2000) (0)
Newsmaker interview. Francis Collins: looking beyond the funding deluge. Interview by Jocelyn Kaiser. (2009) (0)
Absence of linkage of Fechtners syndrome, a variant of autosomal dominant Alport syndrome, to the COL4A3/COL4A4 locus (1998) (0)
O4.05GENETIC DIVERSITY AND INTRA-TUMOR HETEROGENEITY IN HUMAN GLIOBLASTOMA (2014) (0)
GE-21DRASTIC GENOMIC DIVERGENCE OF RECURRENT MEDULLOBLASTOMA INVALIDATES TARGETED THERAPIES DISCOVERED AT DIAGNOSIS. (2014) (0)
Explorer Improved grading and survival prediction of human astrocytic brain tumors by artificial neural network analysis of gene expression microarray data (2012) (0)
A mesenchymal/stem cell predictor of survival of patients with malignant gliomas. (2010) (0)
Abstracts from the 2012 BNOS Conference (2012) (0)
Abstract 3342: Tumor-initiating cells in human glioblastoma are heterogeneous populations which reside in distinct environmental niches (2012) (0)
NIH Music-Based Intervention Toolkit (2023) (0)
Everything That Matters in Biomedicine Builds on Basic Science (2016) (0)
NIH and the Biomedical Research Community: Opportunities and Concerns (2011) (0)
NIH Summit on Anti-SARS-CoV-2 Antibodies for Treatment and Prevention of COVID-19 (2021) (0)
Table 3. [Potential Treatments Tested Only In Vitro and/or in Murine Studies]. (2019) (0)
The mammalian gene function resource: the international knockout mouse consortium (2012) (0)
United States Patent ( 19 ) 11 Patent Number : 5 , 602 , 110 Drumm (0)
A targeted antisense therapeutic approach for Hutchinson–Gilford progeria syndrome (2021) (0)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2019) (0)
Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications (2023) (0)
Addendum: Biotinylation by antibody recognition—a method for proximity labeling (2018) (0)
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes (2018) (0)
Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass (2017) (0)
Farnesylated proteins: how do they get to where they need to go, and how does location regulate their ability to control proliferation, death, transformation and aging? (2006) (0)
Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (2018) (0)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (0)
Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (2018) (0)
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls (2019) (0)
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps (2018) (0)

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Francis Collins

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Francis Collins's Published Works

Published Papers

Other Resources About Francis Collins

What Schools Are Affiliated With Francis Collins?

Image Attributions

Francis Collins's AcademicInfluence.com Rankings