David B. Goldstein

David B. Goldstein 's AcademicInfluence.com Rankings

David B. Goldstein

Biology

#2573

World Rank

#4057

Historical Rank

#1143

USA Rank

Genetics

#230

World Rank

#277

Historical Rank

#119

USA Rank

biology Degrees

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Biology

Why Is David B. Goldstein Influential?

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According to Wikipedia, David Benjamin Goldstein is an American human geneticist. Goldstein is founding Director of the Institute for Genomic Medicine at the Columbia University Medical Center, Professor of Genetics and Development and directs the genomics core of Epi4K and administrative cores of Epi4K with Dan Lowenstein and Sam Berkovic.

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David B. Goldstein '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 Works

Finding the missing heritability of complex diseases (2009) (7749)
Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance (2009) (3726)
Genome-wide association studies for complex traits: consensus, uncertainty and challenges (2008) (2939)
Genetic variation in IL28B and spontaneous clearance of hepatitis C virus (2009) (2197)
Large recurrent microdeletions associated with schizophrenia (2008) (1790)
Common variants conferring risk of schizophrenia (2009) (1653)
A Whole-Genome Association Study of Major Determinants for Host Control of HIV-1 (2007) (1258)
Guidelines for investigating causality of sequence variants in human disease (2014) (1160)
Uncovering the roles of rare variants in common disease through whole-genome sequencing (2010) (1130)
An evaluation of genetic distances for use with microsatellite loci. (1994) (1044)
Common genetic variation and human traits. (2009) (961)
HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin (2009) (956)
De novo mutations in the classic epileptic encephalopathies (2013) (923)
Rare Variants Create Synthetic Genome-Wide Associations (2010) (893)
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways (2015) (816)
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes (2013) (795)
Genetic absolute dating based on microsatellites and the origin of modern humans. (1995) (791)
A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci (2009) (761)
Microsatellites: Evolution and Applications (1999) (744)
Interleukin-28B polymorphism improves viral kinetics and is the strongest pretreatment predictor of sustained virologic response in genotype 1 hepatitis C virus. (2010) (739)
HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. (2011) (675)
Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1. (2003) (659)
Genome-Wide Transcript Profiles in Aging and Calorically Restricted Drosophila melanogaster (2002) (562)
Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis (2012) (547)
The "All of Us" Research Program. (2019) (530)
Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. (1998) (490)
Which evolutionary processes influence natural genetic variation for phenotypic traits? (2007) (484)
ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C (2010) (474)
A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia (2009) (462)
Common Genetic Variation and the Control of HIV-1 in Humans (2009) (448)
Population genetic structure of variable drug response (2001) (440)
Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles. (2011) (421)
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
Clinical application of exome sequencing in undiagnosed genetic conditions (2012) (406)
A structural variation reference for medical and population genetics (2020) (394)
The flow of solute and solvent across a two-membrane system. (1963) (390)
Long-range LD can confound genome scans in admixed populations. (2008) (360)
Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. (2005) (355)
An IL28B polymorphism determines treatment response of hepatitis C virus genotype 2 or 3 patients who do not achieve a rapid virologic response. (2010) (353)
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. (2012) (344)
A polymorphism near IL28B is associated with spontaneous clearance of acute hepatitis C virus and jaundice. (2010) (343)
Diagnostic Utility of Exome Sequencing for Kidney Disease (2019) (339)
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood (2012) (329)
Discerning the Ancestry of European Americans in Genetic Association Studies (2007) (328)
Differential microRNA regulation of HLA-C expression and its association with HIV control (2011) (319)
Pharmacogenetics goes genomic (2003) (313)
Tissue-Specific Genetic Control of Splicing: Implications for the Study of Complex Traits (2008) (300)
Next generation disparities in human genomics: concerns and remedies. (2009) (291)
Islands of linkage disequilibrium (2001) (284)
HLA-C cell surface expression and control of HIV/AIDS correlate with a variant upstream of HLA-C (2009) (283)
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios (2015) (283)
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study (2019) (279)
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. (2017) (272)
Sequencing studies in human genetics: design and interpretation (2013) (254)
Determination of Equivalent Pore Radius for Human Red Cells by Osmotic Pressure Measurement (1960) (250)
UCHL1 is a Parkinson's disease susceptibility gene. (2004) (247)
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine (2014) (245)
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. (2010) (240)
A low mutation rate for chloroplast microsatellites. (1999) (240)
Drug development in the era of precision medicine (2017) (239)
Whole-genome sequencing of patients with rare diseases in a national health system (2020) (239)
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders (2013) (237)
Association of a single nucleotide polymorphism near the interleukin-28B gene with response to hepatitis C therapy in HIV/hepatitis C virus-coinfected patients (2010) (233)
Genetic evidence for a Paleolithic human population expansion in Africa. (1998) (226)
Inferring genetic ancestry: opportunities, challenges, and implications. (2010) (224)
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies (2014) (222)
Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene (2010) (221)
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies (2018) (213)
Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping. (2003) (207)
Y chromosomes traveling south: the cohen modal haplotype and the origins of the Lemba--the "Black Jews of Southern Africa". (2000) (201)
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. (2016) (197)
Interleukin‐28B polymorphisms are associated with histological recurrence and treatment response following liver transplantation in patients with hepatitis C virus infection (2011) (195)
Ancient and Recent Positive Selection Transformed Opioid cis-Regulation in Humans (2005) (194)
Distinct neurological disorders with ATP1A3 mutations (2014) (193)
Positive Selection on a High-Sensitivity Allele of the Human Bitter-Taste Receptor TAS2R16 (2005) (190)
Genetic evidence for different male and female roles during cultural transitions in the British Isles (2001) (190)
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study (2007) (189)
Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction. (2010) (188)
Microsatellite variation in North American populations of Drosophila melanogaster. (1995) (183)
Origins of Old Testament priests (1998) (181)
WGAViewer: software for genomic annotation of whole genome association studies. (2008) (179)
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals (2019) (176)
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway (2014) (175)
Will tomorrow's medicines work for everyone? (2004) (175)
Population genomics: Linkage disequilibrium holds the key (2001) (174)
Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine (2016) (173)
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study (2017) (173)
Genome-Wide mRNA Expression Correlates of Viral Control in CD4+ T-Cells from HIV-1-Infected Individuals (2010) (173)
A Y Chromosome Census of the British Isles (2003) (173)
Genome scans and candidate gene approaches in the study of common diseases and variable drug responses. (2003) (172)
The Characterization of Twenty Sequenced Human Genomes (2010) (171)
Quinidine in the treatment of KCNT1‐positive epilepsies (2015) (171)
MicroRNAs in epilepsy: pathophysiology and clinical utility (2016) (170)
Hepatitis C pharmacogenetics: State of the art in 2010 (2011) (168)
The use of microsatellite variation to infer population structure and demographic history in a natural model system. (1999) (167)
Calculation of the concentrations of free cations and cation-ligand complexes in solutions containing multiple divalent cations and ligands. (1979) (166)
Interpretation of association signals and identification of causal variants from genome-wide association studies. (2010) (166)
Host determinants of HIV-1 control in African Americans. (2010) (165)
Geographical Genomics of Human Leukocyte Gene Expression Variation in Southern Morocco (2009) (163)
Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors. (2002) (161)
Copy Number Variation of KIR Genes Influences HIV-1 Control (2011) (158)
Personalized medicine and human genetic diversity. (2014) (153)
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study (2010) (152)
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. (2015) (151)
Role of parathyroid hormone in the glucose intolerance of chronic renal failure. (1985) (150)
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis (2017) (150)
A predominantly indigenous paternal heritage for the Austronesian-speaking peoples of insular Southeast Asia and Oceania. (2001) (149)
Human migrations and population structure: what we know and why it matters. (2002) (147)
A single-nucleotide polymorphism tagging set for human drug metabolism and transport (2005) (147)
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. (2012) (146)
Priorities and standards in pharmacogenetic research (2005) (146)
Screening the human exome: a comparison of whole genome and whole transcriptome sequencing (2010) (141)
Polymorphisms of large effect explain the majority of the host genetic contribution to variation of HIV-1 virus load (2015) (140)
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (2009) (140)
Positive Selection on a Human-Specific Transcription Factor Binding Site Regulating IL4 Expression (2003) (137)
ABCB1/MDR1 gene determines susceptibility and phenotype in ulcerative colitis: discrimination of critical variants using a gene-wide haplotype tagging approach. (2006) (137)
Microsatellite genetic distances with range constraints: analytic description and problems of estimation. (1997) (136)
Recombination and the evolution of diploidy. (1992) (135)
Sexual dysfunction in the male patient with uremia: a reappraisal. (1981) (135)
Evidence for complex mutations at microsatellite loci in Drosophila. (1999) (133)
Association Study of Common Genetic Variants and HIV-1 Acquisition in 6,300 Infected Cases and 7,200 Controls (2013) (133)
Using ERDS to infer copy-number variants in high-coverage genomes. (2012) (132)
Quantitation of pretreatment serum interferon‐γ–inducible protein‐10 improves the predictive value of an IL28B gene polymorphism for hepatitis C treatment response (2011) (124)
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy (2013) (123)
Inosine triphosphate protects against ribavirin-induced adenosine triphosphate loss by adenylosuccinate synthase function. (2011) (122)
Statistical Properties of Two Teststhat Use Multilocus Data Sets to Detect Population Expansions (1999) (121)
Drug‐metabolizing enzymes: Evidence for clinical utility of pharmacogenomic tests (2005) (121)
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients (2015) (119)
Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics (2017) (117)
The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity (2015) (117)
Psychoneuroimmunology and HIV-1. (1990) (117)
Demography, Recombination Hotspot Intensity, and the Block Structure of Linkage Disequilibrium (2003) (116)
Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2017) (115)
Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs (2012) (113)
Genomic microsatellites as evolutionary chronometers: a test in wild cats. (2002) (113)
One gene, many neuropsychiatric disorders: lessons from Mendelian diseases (2014) (113)
Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene. (2004) (112)
Genome-wide scan of copy number variation in late-onset Alzheimer's disease. (2010) (112)
Multiple origins of Ashkenazi Levites: Y chromosome evidence for both Near Eastern and European ancestries. (2003) (112)
A quantitative genetic analysis of male sexual traits distinguishing the sibling species Drosophila simulans and D. sechellia. (1999) (112)
Pharmacogenetics in the laboratory and the clinic. (2003) (111)
The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes (2016) (111)
Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. (2007) (110)
Nonclinality of molecular variation implicates selection in maintaining a morphological cline of Drosophila melanogaster. (2001) (110)
A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose (2006) (109)
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. (2012) (107)
The HCP5 single-nucleotide polymorphism: a simple screening tool for prediction of hypersensitivity reaction to abacavir. (2008) (105)
Common genetic variation and performance on standardized cognitive tests (2010) (104)
Rare-variant collapsing analyses for complex traits: guidelines and applications (2019) (102)
Vitamin D metabolites and calcium metabolism in patients with nephrotic syndrome and normal renal function. (1981) (101)
Microsatellites provide evidence for Y chromosome diversity among the founders of the New World. (1999) (99)
Association of genetic loci: Replication or not, that is the question (2004) (97)
A genome-wide comparison of the functional properties of rare and common genetic variants in humans. (2011) (97)
Annotating pathogenic non-coding variants in genic regions (2017) (97)
Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. (2012) (97)
The Relation Between the Late After-Potential and the Size of the Transverse Tubular System of Frog Muscle (1964) (97)
Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here? (2005) (96)
Statistical properties of the variation at linked microsatellite loci: implications for the history of human Y chromosomes. (1996) (95)
Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis (2009) (95)
MAINTENANCE OF POLYGENIC VARIATION IN SPATIALLY STRUCTURED POPULATIONS: ROLES FOR LOCAL MATING AND GENETIC REDUNDANCY (1992) (95)
Osteomalacia and hyperparathyroid bone disease in patients with nephrotic syndrome. (1979) (94)
Genomics: Understanding human diversity (2005) (91)
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. (2016) (90)
Genealogical and evolutionary inference with the human Y chromosome. (2001) (89)
Transcript expression-aware annotation improves rare variant interpretation (2020) (89)
In vitro assays fail to predict in vivo effects of regulatory polymorphisms. (2007) (88)
Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders (2016) (88)
Dating the Origin of the CCR 5D 32 AIDS-Resistance Allele by the Coalescence of Haplotypes (2007) (88)
Isolation of ionophores from ion transport systems and their role in energy transduction. (1977) (87)
Finding the missing heritability of complex (2009) (87)
Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease (2018) (87)
Testing for cytochrome P450 polymorphisms in adults with non-psychotic depression treated with selective serotonin reuptake inhibitors (SSRIs). (2007) (86)
Evaluating drug targets through human loss-of-function genetic variation (2019) (86)
The After-Potential that Follows Trains of Impulses in Frog Muscle Fibers (1964) (86)
Mapping and characterization of structural variation in 17,795 human genomes (2020) (84)
Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population (2011) (84)
Membrane-associated DNA in the cytoplasm of diploid human lymphocytes. (1971) (83)
Effect of parathyroid hormone and uremia on peripheral nerve calcium and motor nerve conduction velocity. (1978) (82)
Modification of sodium and potassium channel gating kinetics by ether and halothane (1981) (81)
Gaps and opportunities in refractory status epilepticus research in children: A multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG) (2013) (81)
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (80)
Positive Selection on MMP3 Regulation Has Shaped Heart Disease Risk (2004) (80)
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2019) (78)
Inosine triphosphatase genetic variants are protective against anemia during antiviral therapy for HCV2/3 but do not decrease dose reductions of RBV or increase SVR (2011) (77)
Blood levels of 25-hydroxyvitamin D in nephrotic syndrome. Studies in 26 patients. (1977) (77)
Pharmacogenetics goes genomic (vol 4, pg 937, 2003) (2004) (77)
Population Structure in the Mediterranean Basin: A Y Chromosome Perspective (2006) (76)
Genomewide Association Study for Determinants of HIV-1 Acquisition and Viral Set Point in HIV-1 Serodiscordant Couples with Quantified Virus Exposure (2011) (76)
Influence of ABCB1, ABCC1, ABCC2, and ABCG2 haplotypes on the cellular exposure of nelfinavir in vivo (2005) (76)
Consistent long-range linkage disequilibrium generated by admixture in a Bantu-Semitic hybrid population. (2000) (75)
Impotence in Patients with Uremia (1977) (75)
SVA: software for annotating and visualizing sequenced human genomes (2011) (73)
Quantitative genetic analysis of natural variation in body size in Drosophila melanogaster (2002) (73)
Resolution of muscle calcification in rhabdomyolysis and acute renal failure. (1978) (73)
A framework for the investigation of rare genetic disorders in neuropsychiatry (2019) (73)
Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews. (1999) (73)
The controversial association of ABCB1 polymorphisms in refractory epilepsy: An analysis of multiple SNPs in an Irish population (2007) (72)
Rapid isolation of mouse DNA from cells in tissue culture. (1974) (72)
Africans and Asians abroad: genetic diversity in Europe. (2004) (72)
Failure to replicate effect of kibra on human memory in two large cohorts of European origin (2008) (71)
In genetic control of disease, does 'race' matter? (2004) (71)
The effect of LRRK2 loss-of-function variants in humans (2020) (69)
Reversal of skeletal resistance to parathyroid hormone in uremia by vitamin D metabolites: evidence for the requirement of 1,25(OH)2D3 and 24,25(OH)2D3. (1979) (69)
Genomics meets HIV-1 (2006) (68)
Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration (2018) (68)
Correction: Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes (2013) (65)
Current status of the use of 1,25(OH)2D3 in the management of renal osteodystrophy. (1980) (63)
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy (2015) (60)
A genome-wide genetic signature of Jewish ancestry perfectly separates individuals with and without full Jewish ancestry in a large random sample of European Americans (2009) (59)
COMT val108/158 met genotype affects neural but not cognitive processing in healthy individuals. (2010) (59)
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals (2021) (59)
Potential genetic causes of heterogeneity of treatment effects. (2007) (58)
The Course of Posttransplant Hepatitis C Infection: Comparative Impact of Donor and Recipient Source of the Favorable IL28B Genotype and Other Variables (2012) (58)
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis (2012) (57)
A functional polymorphism regulating dopamine β‐hydroxylase influences against Parkinson's disease (2004) (57)
Role of uremia, brain calcium, and parathyroid hormone on changes in electroencephalogram in chronic renal failure. (1984) (57)
Review of evidence for genetic testing for CYP450 polymorphisms in management of patients with nonpsychotic depression with selective serotonin reuptake inhibitors (2007) (57)
CCL3L1 and HIV/AIDS susceptibility (2009) (57)
Postmortem Delay Has Minimal Effect on Brain RNA Integrity (2007) (56)
To Be Young, Gifted, and Strategic: Advantages for Memory Performance (1996) (56)
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. (2017) (56)
A nonsense mutation in IKBKB causes combined immunodeficiency. (2014) (56)
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. (1986) (56)
IRF2BPL Is Associated with Neurological Phenotypes. (2018) (55)
The Importance of Synthetic Associations Will Only Be Resolved Empirically (2011) (55)
Host Genetics and HIV-1: The Final Phase? (2010) (54)
Practical considerations in the clinical application of whole‐exome sequencing (2016) (54)
A Comprehensive Iterative Approach is Highly Effective in Diagnosing Individuals who are Exome Negative (2018) (54)
Proteins in intracellular simian virus 40 nucleoportein complexes: comparison with simian virus 40 core proteins (1975) (54)
Nucleoprotein Complexes Containing Replicating Simian Virus 40 DNA: Comparison with Polyoma Nucleoprotein Complexes (1973) (53)
Contributions of Mamu-A*01 Status and TRIM5 Allele Expression, But Not CCL3L Copy Number Variation, to the Control of SIVmac251 Replication in Indian-Origin Rhesus Monkeys (2010) (52)
Determinants of protection among HIV‐exposed seronegative persons: an overview. (2010) (52)
Microsatellite behavior with range constraints: parameter estimation and improved distances for use in phylogenetic reconstruction. (1998) (52)
CYP2C9*1B Promoter Polymorphisms, in Linkage with CYP2C19*2, Affect Phenytoin Autoinduction of Clearance and Maintenance Dose (2010) (52)
Investigation of PNPLA3 and IL28B Genotypes on Diabetes and Obesity After Liver Transplantation: Insight Into Mechanisms of Disease (2013) (51)
Geographic clustering of human Y‐chromosome haplotypes (1996) (50)
Mosaic mutations in early-onset genetic diseases (2015) (50)
Physical properties of cytoplasmic membrane-associated DNA. (1973) (50)
Autism and developmental disability caused by KCNQ3 gain‐of‐function variants (2019) (50)
Genetic determinants of variable metabolism have little impact on the clinical use of leading antipsychotics in the CATIE study (2008) (49)
Enhancer Domains Predict Gene Pathogenicity and Inform Gene Discovery in Complex Disease. (2020) (49)
The relationship between the abnormalities in electroencephalogram and blood levels of parathyroid hormone in dialysis patients. (1980) (49)
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature (2016) (49)
Studies on the structure and formation of polyoma DNA replicative intermediates. (1971) (48)
Disturbances in the hypothalamic-pituitary-gonadal axis in male patients with acute renal failure. (1984) (47)
Lung Transplant Outcomes in Patients With Pulmonary Fibrosis With Telomere-Related Gene Variants. (2019) (47)
Effects of long-term therapy with calcitriol in patients with moderate renal failure. (1980) (47)
Simian virus 40‐related DNA sequences in a human brain tumor (1979) (47)
Brain‐derived neurotrophic factor val66met polymorphism and hippocampal activation during episodic encoding and retrieval tasks (2010) (47)
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. (2016) (46)
Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis (2015) (46)
Epi4K: Gene discovery in 4,000 genomes (2012) (46)
IL28B gene polymorphisms and viral kinetics in HIV/hepatitis C virus-coinfected patients treated with pegylated interferon and ribavirin (2011) (45)
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. (2016) (45)
Cardiovascular and neurohumoral responses to behavioral challenge as a function of race and sex. (1989) (45)
IFNL3 mRNA structure is remodeled by a functional non-coding polymorphism associated with hepatitis C virus clearance (2015) (45)
Postnatal differentiation of Leydig cells in the rabbit testis. (1976) (45)
Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients. (2012) (45)
SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum (2015) (45)
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. (2017) (44)
Gender differences in motivations for course selection: Academically talented students in an intensive summer program (1994) (44)
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network (2017) (44)
Culture methods for the blue-green alga Plectonema boryanum and its virus, with an electron microscope study of virus-infected cells. (1966) (43)
The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism (2004) (43)
The distribution of repressive coping styles among non-metastatic and metastatic breast cancer patients as compared to non-cancer patients (1989) (43)
Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19. (2021) (43)
A functional correlate of severity in alternating hemiplegia of childhood (2015) (43)
The Duffy antigen receptor for chemokines null promoter variant does not influence HIV-1 acquisition or disease progression. (2009) (43)
Global pharmacogenetics: genetic substructure of Eurasian populations and its effect on variants of drug-metabolizing enzymes. (2008) (42)
A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A. (2013) (42)
Large-scale pathways-based association study in amyotrophic lateral sclerosis. (2007) (41)
Properties of Nucleoprotein Complexes Containing Replicating Polyoma DNA (1973) (41)
Host genetic determinants of T cell responses to the MRKAd5 HIV-1 gag/pol/nef vaccine in the step trial. (2011) (41)
Synthesis of cytoplasmic membrane-associated DNA in lymphocyte nucleus. (1971) (40)
Reply to 'Haplotype block structure of the cytochrome P450 CYP2C gene cluster on chromosome 10' (2005) (40)
The state of genome-wide association studies in pulmonary disease: a new perspective. (2011) (39)
Modeling and treating GRIN2A developmental and epileptic encephalopathy in mice (2019) (39)
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature (2018) (38)
Some biological and physicochemical properties of blue-green algal virus LPP-1. (1967) (37)
Inhibition of microRNA 128 promotes excitability of cultured cortical neuronal networks (2016) (37)
Whole genome association studies in complex diseases: where do we stand? (2010) (37)
The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield (2019) (36)
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases (2017) (36)
Electron microscopy of the infection process of the blue-green alga virus. (1966) (36)
Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease (2007) (35)
Biphasic stimulation of polyamine biosynthesis in primary mouse kidney cells by infection with polyoma virus:uncoupling from DNA and rRNA synthesis. (1976) (35)
Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia in HIV/HCV-coinfected patients with all HCV genotypes. (2012) (35)
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. (2016) (35)
Genetic basis of susceptibility to drug-induced liver injury: what have we learned and where do we go from here? (2012) (35)
Transcriptional Inhibition of Host Viral Entry Proteins as a Therapeutic Strategy for SARS-CoV-2 (2020) (35)
Coping responses to HIV-1 serostatus notification predict concurrent and prospective immunologic status (1995) (35)
Interleukin 28B polymorphisms are the only common genetic variants associated with low‐density lipoprotein cholesterol (LDL‐C) in genotype‐1 chronic hepatitis C and determine the association between LDL‐C and treatment response (2012) (35)
The All of Us Research Program: Data quality, utility, and diversity (2020) (34)
Ethical challenges in genotype-driven research recruitment. (2010) (34)
The genetic bases of divergence in desiccation and starvation resistance among tropical and temperate populations of Drosophila melanogaster (2001) (34)
Host genetics of HIV acquisition and viral control. (2013) (34)
Causal Genetic Variants in Stillbirth. (2020) (34)
Autonomic nervous system dysfunction and impotence in uremia. (1982) (34)
Swelling of the Transverse Tubular System in Frog Sartorius (1969) (34)
Recipient IL28B Polymorphism Is an Important Independent Predictor of Posttransplant Diabetes Mellitus in Liver Transplant Patients with Chronic Hepatitis C (2012) (33)
Acute renal failure in patients with acute pancreatitis. (1976) (33)
No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy (2009) (33)
Natural selection shapes codon usage in the human genome (2019) (33)
The importance of dynamic re-analysis in diagnostic whole exome sequencing (2016) (32)
The duodenal mucosa in patients with renal failure: response to 1,25(OH)2D3. (1981) (32)
Exome-Based Rare-Variant Analyses in CKD. (2019) (32)
meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays (2018) (31)
Hepatitis C trials that combine investigational agents with pegylated interferon should be stratified by interleukin‐28B genotype (2010) (31)
Lack of Support for a Role for RLIP76 (RALBP1) in Response to Treatment or Predisposition to Epilepsy (2007) (31)
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. (2017) (30)
The α-synuclein gene in multiple system atrophy (2006) (30)
Association Between Common Variants in RBFOX1, an RNA-Binding Protein, and Brain Amyloidosis in Early and Preclinical Alzheimer Disease. (2020) (30)
Course selection and performance of very high ability students: Is there a gender gap? (1992) (30)
Interferon-λ4 is a cell-autonomous type III interferon associated with pre-treatment hepatitis C virus burden. (2015) (30)
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. (2020) (30)
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population (2017) (30)
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations (2017) (30)
Schizophrenia Genetics Comes of Age (2014) (30)
Interleukin-28B gene polymorphisms do not influence the susceptibility to HIV-infection or CD4 cell decline (2011) (30)
Impotence in patients with uremia: a possible role for parathyroid hormone. (1977) (29)
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision (2021) (29)
A comprehensive approach to identifying repurposed drugs to treat SCN8A epilepsy (2018) (29)
The genetics of neuropsychiatric diseases: looking in and beyond the exome. (2015) (29)
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. (2019) (28)
Effect of Protein Modification on Erythrocyte Membrane Mechanical Properties (1978) (28)
Single nucleotide polymorphism upstream of interleukin 28B associated with phase 1 and phase 2 of early viral kinetics in patients infected with HCV genotype 1. (2012) (28)
Counteraction of HLA-C-Mediated Immune Control of HIV-1 by Nef (2010) (28)
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. (2017) (27)
Incorporating Functional Information in Tests of Excess De Novo Mutational Load. (2015) (27)
A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. (2000) (27)
Genome Wide-Association Study Identifies Il28B Polymorphism to Be Associated with Baseline Alt and Hepatic Necro-Inflammatory Activity in Chronic Hepatitis C Patients Enrolled in the Ideal Study (2010) (27)
Promoter polymorphisms and allelic imbalance in ABCB1 expression (2007) (27)
Substitutions of proline 76 in yeast iso-1-cytochrome c. Analysis of residues compatible and incompatible with folding requirements. (1985) (27)
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy (2013) (27)
Deleterious Mutations and the Evolution of Male Haploidy (1994) (26)
Clinical application of whole-genome sequencing in patients with primary immunodeficiency. (2015) (26)
Assessing the Role of Rare Genetic Variation in Patients With Heart Failure. (2020) (26)
The genetics of human drug response (2005) (26)
Cation Transport in Escherichia coli : III. Potassium fluxes in the steady-state (1962) (26)
A pharmacogenetic exploration of vigabatrin-induced visual field constriction (2006) (26)
Genome-wide tagging for everyone (2006) (26)
The Association of Genetic Variants with Hepatic Steatosis in Patients with Genotype 1 Chronic Hepatitis C Infection (2012) (26)
NBEA: Developmental disease gene with early generalized epilepsy phenotypes (2018) (25)
Reassociation and dissociation of cytoplasmic membrane-associated DNA. (1974) (25)
Relationship between the concentrations of calcium and phosphorus in blood and cerebrospinal fluid. (1979) (25)
Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it? (2021) (25)
Induction of antibodies to the envelope protein of the human immunodeficiency virus by immunization with monoclonal anti-idiotypes. (1991) (25)
Genetic enhancement of cognition in a kindred with cone–rod dystrophy due to RIMS1 mutation (2007) (25)
The RBMX gene as a candidate for the Shashi X‐linked intellectual disability syndrome (2015) (25)
Introduction to the genetics and biology of interleukin‐28B (2012) (24)
A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants (2019) (24)
Mechanism of action of "ruthenium red" compounds on Ca2+ ionophore from sarcoplasmic reticulum (Ca2+ + Mg2+)- adenosine triphosphatase and lipid bilayer. (1975) (24)
CLINICAL ADVANCES IN LIVER, PANCREAS, AND BILIARY TRACT Interleukin-28B Polymorphism Improves Viral Kinetics and Is the Strongest Pretreatment Predictor of Sustained Virologic Response in Genotype 1 Hepatitis C Virus (2010) (24)
Schizophrenia: From genetics to physiology at last (2016) (23)
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition (2015) (23)
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (23)
Improved Pathogenic Variant Localization using a Hierarchical Model of Sub-regional Intolerance (2018) (23)
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. (2017) (23)
Whole exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease. (2020) (22)
IL28B genotype effects during early treatment with peginterferon and ribavirin in difficult-to-treat hepatitis C virus infection. (2011) (22)
Heterozygote advantage and the evolution of a dominant diploid phase. (1992) (22)
Pharmacogenetics at 50: Genomic Personalization Comes of Age (2014) (22)
Il28B Genotype Is Not Associated with Advanced Hepatic Fibrosis in Chronic Hepatitis C Patients Enrolled in the Ideal Study (2010) (22)
Human Genetics: The Hidden Text of Genome-wide Associations (2007) (22)
Evaluating the Impact of Functional Genetic Variation on HIV-1 Control (2017) (22)
The search for uremic toxin(s) "X" "X" = PTH. (1979) (22)
Drug resistance in epilepsy: More twists in the tale (2007) (22)
Phenotypic analysis of 303 multiplex families with common epilepsies (2017) (21)
Reduced GABAergic Neuron Excitability, Altered Synaptic Connectivity, and Seizures in a KCNT1 Gain-of-Function Mouse Model of Childhood Epilepsy (2020) (21)
A study on the transcription of the polyoma viral genome. (1970) (21)
Single proximal tubules of Necturus kidney. VIII. Na and K determination by glass electrodes. (1963) (21)
Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease (2021) (20)
Exome sequencing in obsessive–compulsive disorder reveals a burden of rare damaging coding variants (2021) (20)
8: Whole exome sequencing in the evaluation of fetal structural anomalies: A prospective study of sequential patients (2017) (20)
TMPRSS2 Transcriptional Inhibition as a Therapeutic Strategy for COVID-19 (2020) (20)
Data Sharing in the Undiagnosed Diseases Network (2015) (20)
The role of common variation in drug transporter genes in refractory epilepsy (2005) (19)
On the redox conformational change in cytochrome c. (1984) (19)
Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013)) (2017) (19)
Characteristics of undiagnosed diseases network applicants: implications for referring providers (2018) (19)
Utilizing population controls in rare-variant case-parent association tests. (2014) (18)
Genetic and environmental correlates of topiramate‐induced cognitive impairment (2012) (18)
Diabetic nephropathy: clinical course and effect of hemodialysis. (1978) (18)
Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium. (2012) (18)
Impact of phenotype definition on genome-wide association signals: empirical evaluation in human immunodeficiency virus type 1 infection. (2011) (17)
Correction: A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia (2009) (17)
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses (2020) (17)
ATAV: a comprehensive platform for population-scale genomic analyses (2020) (17)
Examining the role of common genetic variation in the γ2 subunit of the GABAA receptor in epilepsy using tagging SNPs (2006) (17)
Antibodies to SARS-CoV-2 in All of Us Research Program Participants, January 2-March 18, 2020. (2021) (16)
Population structure, fitness surfaces, and linkage in the shifting balance process. (1995) (16)
Protein comparison and classification: a differential geometric approach. (1988) (16)
Noncoding Deletions Expose a Novel Gene Critical for Intestinal Function (2019) (16)
Histone modifications in simian virus 40 and in nucleoprotein complexes containing supercoiled viral DNA (1979) (16)
Rare genetic causes of complex kidney and urological diseases (2020) (16)
Diagnostic Exome Sequencing: A New Paradigm in Neurology (2013) (16)
Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies (2015) (16)
Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgery (2011) (15)
Growth of genome screening needs debate (2011) (15)
Early dialysis in diabetic patients with chronic renal failure. (1979) (15)
In vitro‐labeled DNA for detecting viral genomes in multiple sclerosis (1977) (15)
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative (2022) (15)
Effects of 6 months therapy with 1,25 (OH)2D3 on bone disease of dialysis patients. (1980) (15)
The evolution of interference: reduction of recombination among three loci. (1993) (14)
Effect of an oral dose of 25-hydroxyvitamin D3 on its blood levels in patients with the nephrotic syndrome. (1980) (14)
Role of parathyroid hormone in uremic toxicity. (1978) (14)
Phenomics and the Interpretation of Personal Genomes (2014) (14)
A polymorphism in the HCP5 gene associated with HLA-B*5701 does not restrict HIV-1 in vitro (2010) (14)
Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy (2015) (14)
Long-term effects of 1,25(OH)2D3 on clinical and biochemical derangements of divalent ions in dialysis patients. (1980) (14)
Multifactorial Diseases: Asthma Genetics Point the Way (2002) (14)
A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS (2019) (14)
High-impact rare genetic variants in severe schizophrenia. (2021) (14)
G protein-coupled potassium channels implicated in mouse and cellular models of GNB1 Encephalopathy (2019) (13)
Interleukin‐28B and fibrosing cholestatic hepatitis in posttransplant hepatitis C: A case‐control study and literature review (2013) (13)
A whole-genome analysis of premature termination codons. (2011) (13)
Modification of the PROM1 disease phenotype by a mutation in ABCA4 (2019) (13)
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia (2020) (13)
Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing (2015) (13)
The −1021C→T DBH gene variant is not associated with epilepsy or antiepileptic drug response (2004) (13)
Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series (2017) (13)
Genome-wide association study (GWAS) of human host factors influencing viral severity of herpes simplex virus type 2 (HSV-2) (2017) (12)
Anion inhibitor-sensitive unidirectional sodium movements in the human erythrocyte (1978) (12)
Precision Medicine in Internal Medicine (2019) (12)
A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease.(vol 55, 443, 2004) (2004) (12)
Genetic testing in individuals with cerebral palsy (2021) (12)
The genetics of common diseases: 10 million times as hard. (2003) (12)
Enhancer redundancy predicts gene pathogenicity and informs complex disease gene discovery (2018) (12)
2nd AIAA Flow Control Conference (2004) (11)
IRF2BPL Is Associated with Neurological Phenotypes. (2018) (11)
Phenotype variability in Hajdu-Cheney syndrome. (2019) (11)
Whole Exome Sequencing Reveals Severe Thrombophilia in Acute Unprovoked Idiopathic Fatal Pulmonary Embolism (2017) (11)
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity (2021) (11)
Diverse genetic causes of polymicrogyria with epilepsy (2021) (11)
Whole Exome Sequencing in 20,197 Persons for Rare Variants in Alzheimer Disease (2018) (11)
Genetic Sampling Error of Distance (δμ)2 and Variation in Mutation Rate Among Microsatellite Loci (2001) (11)
Properties of the histones associated with simian virus 40 replicative form nucleoprotein complex. (1978) (11)
Mutations in NGLY 1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation ( ERAD ) Pathway (2014) (11)
Sudden unexpected death in asymptomatic infants due to PPA2 variants (2019) (11)
D-DEMØ, a distinct phenotype caused by ATP1A3 mutations (2020) (10)
Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation (2016) (10)
Glomerulonephritis in systemic lupus erythematosus. (1981) (10)
A catalog of associations between rare coding variants and COVID-19 outcomes (2020) (10)
Structural changes in simian virus 40 chromatin as probed by restriction endonucleases (1979) (10)
Physical properties of the DNA from the blue-green algal virus LPP-1. (1967) (10)
A genetic date for the origin of Old Testament Priests (1998) (10)
1168 IL28B GENETIC VARIATION ASSOCIATED WITH EARLY VIRAL KINETICS AND SVR IN HCV GENOTYPE 1 THE VIRAHEP-C STUDY (2010) (10)
Hyperparathyroidism and hypotestosteronemia of acute renal failure. (1988) (10)
A Transcriptome‐Based Drug Discovery Paradigm for Neurodevelopmental Disorders (2020) (9)
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. (2020) (9)
Whole‐Exome Sequencing Study of Extreme Phenotypes of NAFLD (2018) (9)
Population genetics for target identification. (2004) (9)
Genomics and Biology Come Together to Fight HIV (2008) (9)
Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders (2020) (9)
Late-onset pattern macular dystrophy mimicking ABCA4 and PRPH2 disease is caused by a homozygous frameshift mutation in ROM1 (2019) (9)
No association of DYNC1H1 with sporadic ALS in a case‐control study of a northern European derived population: A tagging SNP approach (2006) (9)
Calcium metabolism in patients with nephrotic syndrome. A state with vitamin D deficiency. (1978) (9)
Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19 (2020) (9)
Evolutionary inference from genomic data (1999) (9)
Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary Fibrosis. (2022) (9)
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. (2021) (9)
Genomic and clinical predictors of lacosamide response in refractory epilepsies (2019) (8)
Review article: HCV ? STAT-C era of therapy (2010) (8)
Differential geometry and protein conformation. V. Medium‐range conformational influence of the individual amino acids (1987) (8)
High-throughput analysis of informative CYP2D6 compound haplotypes. (2003) (8)
Is calcitriol [1,25(OH)2D3] harmful to renal function? (1979) (8)
Common variation in the SCN1A gene is a risk factor for common forms of epilepsy associated with febrile seizures (2004) (8)
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis. (2021) (8)
Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency (2020) (8)
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders (2021) (8)
Intact and Carboxyterminal PTH Do Not Cross the Blood-Cerebrospinal Fluid Barrier 1 (1984) (8)
Contribution of Pastimes and Testing Strategies to the Performance of Healthy Volunteers on Cognitive Tests (2011) (7)
Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load (2020) (7)
Precision genetic cellular models identify therapies protective against ER stress (2021) (7)
Production and partial purification of rat fibroblast-derived interferon induced in a newly established cell line. (1984) (7)
On the pathogenesis of sexual dysfunction of the uraemic male. (1980) (7)
Antibodies to Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) in All of Us Research Program Participants, 2 January to 18 March 2020 (2021) (7)
Erratum : Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018)) (2017) (7)
Principles of Pharmacogenetics and Pharmacogenomics: Contributors (2011) (6)
125 IL28B POLYMORPHISM IS ASSOCIATED WITH JAUNDICE DURING ACUTE HCV INFECTION AND IS A STRONG PREDICTOR FOR SPONTANEOUS CLEARANCE IN THE PROSPECTIVE GERMAN ANTI-D COHORT (2010) (6)
Il28B Genetic Polymorphism Has Genome Wide Significant Associations with Serum Low Density Lipoprotein Levels and Hepatic Steatosis in Patients with Genotype 1 Chronic Hepatitis C (Chc) (2010) (6)
Il28B C/c Genotype Is Predictive of >= 1 Log10 Iu/ml Reduction in Plasma Hcv Rna After 4 Weeks of Peginterferon (Pegifn) and Ribavirin (Rbv) Therapy: Implications for the Use of the Lead-In Strategy for Direct-Acting Antiviral-Based Treatment Regimens (2011) (6)
The phenotype of bilateral hippocampal sclerosis and its management in “real life” clinical settings (2018) (6)
Pharmacogenetics [7] (multiple letters) (2003) (6)
Erratum: De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype (American Journal of Human Genetics (2016) 99(4) (991–999)(S0002929716303718)(10.1016/j.ajhg.2016.08.017)) (2017) (5)
Modifier genetics in neuropsychiatric disease: challenges and opportunities (2012) (5)
3 IL28B POLYMORPHISM IS ASSOCIATED WITH INTRAHEPATIC ISG EXPRESSION AND PEGINTERFERON-A/RIBAVIRIN RESPONSE RATE IN CHRONIC HCV INFECTION (2010) (5)
De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation (2021) (5)
Hormonal intervention for the treatment of veterans with COVID-19 requiring hospitalization (HITCH): a multicenter, phase 2 randomized controlled trial of best supportive care vs best supportive care plus degarelix: study protocol for a randomized controlled trial (2021) (5)
Role of human leukocyte antigen class I alleles in progressive multifocal leukoencephalopathy (2010) (5)
Impotence in Uremia (1983) (5)
Exome Sequencing in Venous Thromboembolic Disease Identifies Excess Mutation Burden in PROS1, PROC, SERPINC1 and STAB2 (2016) (5)
Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients (2018) (5)
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. (2019) (5)
Diabetes mellitus, moderate renal insufficiency and hyperkalemia. (1983) (5)
Proteins inIntracellular Simian Virus 40Nucleoprotein Complexes: Comparison withSimian Virus 40CoreProteins (1975) (5)
126 PREDICTIVE ROLE OF IL28B C/C GENOTYPE ON SVR AND RVR IN PATIENTS WITH GENOTYPE 2/3 CHRONIC INFECTION (2010) (5)
Correction: Copy Number Variation of KIR Genes Influences HIV-1 Control (2011) (4)
A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam (2022) (4)
Population genetic approaches to neurological disease: Parkinson's disease as an example (2005) (4)
MAINTENANCE OF POLYGENIC VARIATION IN SPATIALLY (1992) (4)
Cases in Precision Medicine: Genetic Testing to Predict Future Risk for Disease in a Healthy Patient (2021) (4)
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders (2021) (4)
Parathyroid Hormone, Uremia, and the Nervous System1 (1980) (4)
Exome Sequencing Studies Identify Mutations in STAB2 As a Genetic Risk for Venous Thromboembolic Disease (2017) (4)
Contribution of the Excluded Volume of Bovine Serum Albumin for Solute Molecules to the Apparent Nonsolvent Water (1970) (4)
A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate (2020) (4)
Divalent ions in blood and cerebrospinal fluid: effect of hypercalcemia, hyperphosphatemia, renal failure and parathyroid hormone. (1980) (4)
Pharmacogenetics goes genomic (2003) (4)
Correlations of Immune Function with Mood and Coping Measures over Time in an AIDS Risk Group (1989) (3)
Regional Collapsing of Rare Variation Implicates Specific Genic Regions in ALS (2018) (3)
Quantitative genetic analysis of natural variation in Drosophila melanogaster (2002) (3)
Testing for risk and protective trends in genetic analyses of HIV acquisition. (2015) (3)
HEPATITIS C TRIALS THAT COMBINE INVESTIGATIONAL AGENTS WITH PEGYLATED-INTERFERON-alpha SHOULD BE STRATIFIED BY IL28B GENOTYPE (2010) (3)
Loss-of-function in IRF2BPL is associated with neurological phenotypes (2018) (3)
Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2018) (3)
Genetic sampling error of distance (delta(mu))2 and variation in mutation rate among microsatellite loci. (2001) (3)
Corrigendum to “Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.” [Neurobiol. Aging 51 (2017) 178.e11–178.e20] (2017) (3)
Recurrent acute renal failure in a patient with mixed connective tissue disease. (1982) (3)
Impact of phenotype definition on genome-wide association signals: empirical evaluation in HIV-1 infection (2011) (3)
A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa. (2017) (3)
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (3)
Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The American Journal of Human Genetics (2019) 105(2) (413–424), (S0002929719302393), (10.1016/j.ajhg.2019.06.014)) (2019) (3)
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (3)
Using common genetic variants to find drugs for common epilepsies (2021) (3)
Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis (2022) (3)
Pharmacogenetics and pharmacogenomics (2010) (3)
Renal dysfunction in a 38-year-old man with hepatic failure. (1983) (2)
Incorporating external information to improve sparse signal detection in rare‐variant gene‐set‐based analyses (2020) (2)
Jacob's Legacy (2017) (2)
1334 DYSREGULATION OF HOST INNATE IMMUNITY IN HCV GENOTYPE 1 INFECTED IL28B CT/TT HAPLOTYPE PATIENTS WITH DEPRESSED VIRAL KINETICS AND THERAPEUTIC RESPONSE (2011) (2)
5 Il28b Polymorphism is Associated With Intrahepatic ISG Expression and Peginterferon-α/Ribavirin Response Rate in Chronic HCV Infection (2010) (2)
Correction: Pharmacogenetics goes genomic (2004) (2)
Variant Interpretation and Genomic Medicine (2019) (2)
Differential effects of metabolic inhibitors on cytoplasmic membrane associated and nuclear DNA. (1974) (2)
Academic-industrial partnerships in drug discovery in the age of genomics. (2015) (2)
A genome-wide screen for variants influencing certolizumab pegol response in a moderate to severe rheumatoid arthritis population (2022) (2)
Some promising fields of inquiry in biomedical alcohol research. (1979) (2)
Erratum: A functional polymorphism regulating dopamine β-hydroxylase influences against Parkinson's disease (Annals of Neurology (March 2004) 55 (443-446) DOI: 10.1002/ana.20235 (2004) (2)
The Suppression of the Late After-Potential in Rubidium-Containing Frog Muscle Fibers (1965) (2)
Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson disease (2018) (2)
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. (2022) (2)
Hypothalamic-pituitary-adrenal (HPA) axis function in children treated with inhaled beclomethasone dipropionate (BDP) (1982) (2)
Heterogeneous nuclear ribonucleoprotein U (HNRNPU) safeguards the developing mouse cortex (2022) (2)
Genome-wide Enrichment of TERT Rare Variants in Idiopathic Pulmonary Fibrosis Patients of Latino Ancestry (2022) (2)
Nephrotic syndrome in a patient with liver disease. (1982) (2)
Notification of HIV‑1 Antibody Status: Coping and Mood State in Healthy Gay Men (1989) (2)
Ancestry adjustment improves genome-wide estimates of regional intolerance (2020) (2)
Haplotype structure and linkage disequilibrium in 26 worldwide populations. (2002) (2)
Injustice to women scientists. (1971) (2)
A Genome-Wide Association Study Identifies Potential Susceptibility Loci for Hepatotoxicity Due to Various Drugs (2011) (2)
Correction: Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics (2018) (2)
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2021) (1)
Genomic analysis of “microphenotypes” in epilepsy (2021) (1)
PREDICTING PEGINTERFERON-alpha AND RIBAVIRIN TREATMENT RESPONSE IN GENOTYPE 1 HCV PATIENTS - SIMPLE NOMOGRAMS TO SUPPORT CLINICIANS (2011) (1)
Annotating pathogenic non-coding variants in genic regions (2017) (1)
Multidrug Resistance Gene ABCB1 Activity of the Identifying Candidate Causal Variants Responsible for Altered (2008) (1)
Calcitriol and Renal Function-Reply (1981) (1)
Herpesvirus and multiple sclerosis. (1976) (1)
A GENOME-WIDE META-ANALYSIS OF AROMATIC ANTI-EPILEPTIC DRUG INDUCED MACULOPAPULAR EXANTHEMA (2015) (1)
Modifier genetics in neuropsychiatric disease: challenges and opportunities (2012) (1)
A genetic perspective of Drosophila melanogaster latitudinal body size clines (2002) (1)
Common variation near glial-derived neurotrophic factor is associated with progression of hepatic collagen content in a genome-wide association study of liver fibrosis phenotypes in patients with primary sclerosing cholangitis (2017) (1)
Parathyroid hormone, uremia, and the nervous system. (1980) (1)
Spinal Fluid Biomarkers for Multiple System Atrophy - A Pilot Study (S18.002) (2016) (1)
Whole Exome Sequencing: A Novel Strategy to Understand Chronic Lung Allograft Dysfunction (CLAD) (2014) (1)
Host Genetics: Fine-Tuning Innate Signaling (2007) (1)
Translating amyotrophic lateral sclerosis genes into drug development leads (2021) (1)
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. (2021) (1)
Genomics: Lessons in complexity from yeast (2010) (1)
Correction: Genomewide Association Study for Determinants of HIV-1 Acquisition and Viral Set Point in HIV-1 Serodiscordant Couples with Quantified Virus Exposure (2012) (1)
The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes (2016) (1)
Association study of the SCN1A gene in epilepsy and antiepileptic drug responsiveness (2002) (1)
Itpa Genetic Variants Are Protective Against Anemia During Antiviral Therapy for G2/3 Hcv, But Do Not Decrease the Need for Rbv Dose Reduction or Increase Svr (2010) (1)
Haplotype tagging in pharmacogenetics. (2005) (1)
Have genomic screening advances gone far enough?: 4 (2019) (1)
A comparison of the effects of glucose, glucose 6-phosphate and inorganic orthophosphate on the fluorescence and quenchability of hexokinase (1982) (1)
Uses of electron paramagnetic resonance in alcohol research. (2008) (1)
Transcript expression-aware annotation improves rare variant interpretation (2020) (1)
Year : 2010 Genome-wide mRNA expression correlates of viral control in CD 4 + T-cells from HIV-1-infected individuals (2011) (1)
Hematuria in a 42-year-old woman. (1982) (1)
Effects of Behavioral Intervention on Coping Behaviors in Healthy Gay Males at Risk for AIDS (1989) (1)
Arthur Hinton Rosenfeld (2017) (1)
Molecular Architecture and Neurobiology of the Epilepsies (2016) (1)
The Heart of PD is the Heart: Lewy Body Diseases as Neurocardiologic Disorders (S12.004) (2018) (0)
Cardiovascular Pharmacogenetics (2004) (0)
127 PHOSPHODIESTERASE POLYMORPHISMS MAY BE ASSOCIATED WITH BASELINE THYROID STIMULATING HORMONE (TSH) AND PEGINTERFERON TREATMENT INDUCED HYPOTHYROIDISM IN PATIENTS WITH CHRONIC HEPATITIS C (2011) (0)
Variants in the Itpa Gene Protect Against Early Ribavirin-Induced Hemolytic Anemia in Hiv/hcv Co-Infected Patients (2010) (0)
Mutations in AIFM1 cause a potentially treatable X-linked childhood cerebellar ataxia (2017) (0)
The paradoxical effects of K+ channel gain-of-function are mediated by GABAergic neuron hypoexcitability and hyperconnectivity (2020) (0)
Genes Make Sense: Seeking Causative Genes for Human Congenital General Anosmia (2013) (0)
Reply (2017) (0)
Characterization Of Focal And Generalized Epilepsy Polygenic Burden In 630,603 Individuals (2019) (0)
PNPLA3 Variants Confer an Increased Risk of Advanced Fibrosis Due to Non-Alcoholic Steatohepatitis (2016) (0)
Establishing a transcriptome-based drug discovery paradigm for neurodevelopmental disorders (2020) (0)
Genome-Wide Association Study of Clinically Significant Portal Hypertension in Patients with Nonalcoholic Steatohepatitis and Advanced Fibrosis (2016) (0)
505 DONOR IL28B TT-POLYMORPHISM IS ASSOCIATED WITH INCREASED INCIDENCE OF HEPATIC STEATOSIS IN LIVER TRANSPLANT PATIENTS WITH CHRONIC HEPATITIS C (2013) (0)
Incorporating prior information into signal-detection analyses across biologically informed gene-sets (2019) (0)
Long-Term Energy Solutions: The Truth Behind the Silent Lie (2004) (0)
SEEING BRAIN FUNCTION IN A NEW LIGHT (2010) (0)
Truth, not scare, on CO2 policy (1993) (0)
THERMAL ANALYSIS OF EXPERIMENTAL APPARATUS SIMULATING ICY WORLD (2022) (0)
Save More, Spill Less (2010) (0)
Contents of Volume 1 (1983) (0)
Children with Critical Illness Carry Risk Variants Despite Non-Diagnostic Whole Exome Sequencing (2022) (0)
The End of Genetics (2022) (0)
Sublimation and photodissociation in the LCROSS ejecta plume: Effects of lunar material (2019) (0)
Whole-genome sequencing of patients achieving hepatitis B virus serum antigen loss following tenofovir disoproxil fumerate (TDF) and/or pegylated-interferon α-2a (PEG) therapy (2017) (0)
Selling alcohol research. (1981) (0)
Homeschooling the Girl Stomach (2021) (0)
The Role of Aldehyde Detoxification in Parkinson’s Disease (2013) (0)
Manuring Eden: (2017) (0)
Oil import fee? (1987) (0)
Genetically determined dopamine levels are associated with obesity (2004) (0)
P0711 : Genome-wide association study of response to sofosbuvir-ribavirin treatment in GT2/3 HCV patients (2015) (0)
Next Generation Sequencing May Be More Efficient and Economical Than Targeted Gene Testing in Patients with Primary Immune Deficiency (PID) (2013) (0)
Author Correction: A structural variation reference for medical and population genetics (2021) (0)
Genetic variation in GABAG2 - Lessons to be learned from association studies in two large epilepsy cohorts (2005) (0)
Genes and Common Diseases: Population diversity, genomes and disease (2007) (0)
Variable Drug Response: Genetic Evaluation (2006) (0)
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2020) (0)
A structural variation reference for medical and population genetics (2020) (0)
Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2017) (0)
Evaluating drug targets through human loss-of-function genetic variation (2020) (0)
The mutational constraint spectrum quantified from variation in 141,456 humans (2020) (0)
Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium (2018) (0)
Association of CYP2B6 Single-Nucleotide Polymorphisms Altering Efavirenz Metabolism With Hepatitis C Virus (HCV) Treatment Relapse Among Human Immunodeficiency Virus/HCV–Coinfected African Americans Receiving Ledipasvir/Sofosbuvir in the ION-4 Trial (2018) (0)
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (2020) (0)
Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (2021) (0)
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia (2020) (0)
Author Correction: Evaluating drug targets through human loss-of-function genetic variation (2021) (0)
Author Correction: Transcript expression-aware annotation improves rare variant interpretation (2021) (0)
Concordance of SARS-CoV-2 Antibody Results during a Period of Low Prevalence (2022) (0)
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans (2021) (0)
The effect of LRRK2 loss-of-function variants in humans (2020) (0)
Pharmacogenomics and the Treatment of Neurological Disease (2003) (0)
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders (2013) (0)
Research Notes (2016) (0)
Authors & Collaborators _ RAISE study (2015) (0)
Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies (2019) (0)
WHOLE-EXOME SEQUENCING IN 20,197 INDIVIDUALS IDENTIFIES ULTRA-RARE SORL1 LOSS-OF-FUNCTION VARIANTS IN LATE-ONSET ALZHEIMER’S DISEASE (2018) (0)
Risk Variants in the Exomes of Children With Critical Illness (2022) (0)
Linkage disequilibrium and haplotype mapping of the human cytoplasmic dynein heavy chain 1 gene on chromosome 14q32 (2003) (0)
Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy (2022) (0)
Whole exome sequencing in the diagnosis of liver diseases (2022) (0)
Investigation into the Genetics of Fetal Congenital Lymphatic Anomalies. (2023) (0)
Single Cell transcriptional analysis of ex vivo models of cortical and hippocampal development identifies unique longitudinal trends (2022) (0)
Myosin Mutations and Sudden Sensorineural Hearing Loss: Results of Whole Exome Sequencing (2022) (0)
AFRICANS AND ASIANS ABROAD: Genetic (2004) (0)
A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants (2019) (0)
Encephalopathy-causing mutations in Gβ1 (GNB1) alter regulation of neuronal GIRK channels (2021) (0)
Allele frequency distributions of all HapMap SNPs (black), Illumina 1M SNPs (blue), and GWAS associations in CEU (red), and simulated synthetic associations (green). (2013) (0)
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data (2017) (0)
Nephrotic syndrome in a 47-year-old woman with monoclonal gammopathy. (1982) (0)
2015 GENOME WIDE ANALYSIS OF PATIENTS FROM THE IDEAL STUDY IDENTIFIES A CAUSAL ROLE FOR ITPA GENETIC VARIATION IN RIBAVIRIN-INDUCED HEMOLYTIC ANEMIA (2010) (0)
Population genetic approaches to Parkinsons disease. (2003) (0)
approach is highly effective in diagnosing individuals who are negative. (2019) (0)
Pharmacogenomics of neurological disorders (2002) (0)
Genetic associations with brain amyloidosis (2020) (0)
Association of Genetic Variants with Disease Progression in Patients with Idiopathic Pulmonary Fibrosis (IPF): Data from the IPF-PRO Registry (2022) (0)
The Relevance of Rare Genetic Variation of MicroRNAs, Their Biosynthesis Genes and Target Regions in Epilepsy (2018) (0)
Gene-Based Collapsing Genetic Analyses to Identify Rare Protein-Coding Variants Associated with Susceptibility to Idiopathic Pulmonary Fibrosis (IPF): Data from the IPF-PRO Registry (2022) (0)
PHARMACOGENOMIC EXPLORATION OF LACOSAMIDE RESPONSE (2015) (0)
Association study of five sodium channel genes in epilepsy and antiepileptic drug response (2005) (0)
Precision genetic cellular models identify therapies protective against endoplasmic reticulum stress (2020) (0)
Anuria and acute renal failure in a 61-year-old woman. (1981) (0)
Human genetic history looks to the future (2001) (0)
Corrigendum to: Common genetic variation and performance on standardized cognitive tests (2010) (0)
Whole-genome sequencing of patients with rare diseases in a national health system (2020) (0)
De Novo Mutations in 124 Cases of Sudden Unexplained Deaths in Childhood (2019) (0)
CHAPTER 101 – Epilepsy Predisposition and Pharmacogenetics (2009) (0)
ATAV: a comprehensive platform for population-scale genomic analyses (2021) (0)
Investigating the relationship between rare genetic variants and advanced fibrosis in pediatric nonalcoholic fatty liver disease (2018) (0)
Investigating Polygenic Contributions of Common Hippocampal Variants to Epilepsy Predisposition (2015) (0)
Genome-Wide Association Study of the Human Genetic Factors Influencing the Risk of Adverse Events during Idelalislib Therapy in Patients with Relapsed Indolent Lymphoma (2016) (0)
Title : MicroRNAs in epilepsy : pathophysiology and clinical utility (2016) (0)
CHAPTER 27 – Pharmacogenetics and Pharmacogenomics (2009) (0)
CHAPTER 2 – Concepts of Population Genomics (2009) (0)
Common Genetic Variants Do Not Associate with Ifn-Induced Neutropenia in a Genome-Wide Association Study of Chronic Hepatitis C Patients in the Ideal Study (2010) (0)
Reply to Two patients with TNK2 mutations and late-onset infantile spasm (2016) (0)
THU-233-Whole exome sequencing analysis of the role of rare human variation in chronic hepatitis B infection (2019) (0)
GENETIC MAPPING IN SPORADIC EPILEPSY (2009) (0)
IDENTIFICATION OF A NOVEL GENE IN A FAMILY WITH SEVERE INFANTILE-ONSET EPILEPSY (2012) (0)
Principles of Pharmacogenetics and Pharmacogenomics: Introduction (2012) (0)
Erratum to: The Association of Genetic Variants with Hepatic Steatosis in Patients with Genotype 1 Chronic Hepatitis C Infection (2012) (0)
Causal Genetic Variants in Stillbirth. Reply. (2020) (0)
On the genesis of the clinical manifestations of hypercalcemic disorders. (1978) (0)
Following the dogma: molecular evolutionists move from genes to messages and proteins. (2002) (0)
930 ANALYSIS OF GENOTYPE 1 HCV ADAPTATION TO HOST IL28B POLYMORPHISM - EVIDENCE FOR VIRAL INNATE IMMUNE ESCAPE PATTERNS (2012) (0)
Pharmacogenetics and the Treatment of Cardiovascular Disease (2004) (0)
Mechanisms of Profound Myocardial Norepinephrine Depletion in Parkinson Disease (S37.002) (2014) (0)
Pnpla3 Genotype Rather Than Race May Explain the Lower Prevalence of Hepatic Steatosis Despite Worse Metabolic Risk Factors in African American Patients with Chronic Hepatitis C (Chc) (2011) (0)
The role of mendelian PD genes in non-mendelian PD: A haplotype tagging approach (2004) (0)
Large-scale exome sequencing in ALS identifies new risk genes and pathways (S34.005) (2015) (0)
Roles for Genetic Testing in Epilepsy (2014) (0)
Genome-Wide Association Study (Gwas) of Liver Fibrosis Phenotypes in Patients with Primary Sclerosing Cholangitis (Psc) Reveals Common Genetic Variation Influencing Serum Levels of Lysyl Oxidase-Like-2 (Loxl2) (2016) (0)
Toward Precision Medicine In Neurodevelopmental Diseases (2017) (0)
Infectious Disease Genomics: Individual Variability, New Opportunities (2011) (0)
Whole exome sequencing identifies rare nonsense mutations enriched among patients with advanced fibrosis due to nonalcoholic steatohepatitis (2018) (0)
Whole-Exome Sequencing Reveals IKBKB As a Cause of Combined Immunodeficiency (2014) (0)
@| Cntrece Rhabdornyolysis and Pancy eni-a in a Young Man (2005) (0)
@| Cntrece Rhabdornyolysis and Pancy eni-a in a Young Man (2005) (0)
The relationship of coping strategies, affect, and immune function among individuals at risk for acquired immune deficiency syndrome (1991) (0)
Cation Transport in Escherichia coli (1962) (0)
The Context of Our Genetic History (2000) (0)
Genomic Analyses of Host-Pathogen Interactions in Chronic Hepatitis B Virus Infection (2016) (0)
Editorial (2003) (0)
Fever and Pancytopenia in an Alcoholic Patient Discussants : (2005) (0)
1166 THE PREDICTIVE VALUE OF IL28B GENE POLYMORPHISM FOR RESPONSE TO PEGINTERFERON AND RIBAVIRIN IS ENHANCED BY QUANTITATION OF IP-10 IN PRETREATMENT SERUM (2010) (0)
In Synucleinopathies, Elevated Ratios of Cysteinyl-Dopamine:3,4-Dihydroxyphenylacetic Acid (DOPAC) in Cerebrospinal Fluid are Associated Specifically with Parkinsonism (I1.006) (2016) (0)
Study of structure-function relationships in proteins: Techniques and applications ot cytochrome c: Final report January 15, 1988--January 14, 1989 (1989) (0)
PrecisionMedicine in InternalMedicine (2019) (0)
Predisposition to secondary generalised tonic-clonic seizures and genetic variation in ion-channel, GABA and glutamate pathway genes (2007) (0)
Focused goodness of fit tests for gene set analyses (2021) (0)
Decreased L-Aromatic-Amino-Acid Decarboxylase Activity and Vesicular Storage Contribute to Putamen Dopamine Depletion in Parkinson’s Disease and Multiple System Atrophy (P6.385) (2016) (0)
An associated interval approach for identifying candidate causal variants underlying altered activity of the ABCB1 multi-drug resistance gene. (2003) (0)
Towards a systematic screen of cytoplasmic dynein-dynactin genes and other candidates for association with motor neuron degeneration disorders by tagging SNP analysis. (2005) (0)
The genetics of antiepileptic drug response in focal epilepsy: A large candidate gene study (2007) (0)
Multifactorial Diseases: Asthma Genetics Point the Way Dispatch (2002) (0)
Survival in Synucleinopathies (P1.265) (2015) (0)
Human population structure and demographic history using genetic markers (2002) (0)
Natural Selection Shapes Codon Usage in the Human Genome. (2022) (0)
Threads to Antiquity: A Genetic Record of Sex-specific Demographic Histories of Jewish Populations (2004) (0)
The genetics of HIV resistance in exposed uninfected Haemophilia A patients: an update on the CHAVI 014 protocol (2010) (0)
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing (2023) (0)

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