Deborah Nickerson
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Genome scientist
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Deborah Nickersonbiology Degrees
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#2018
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Computational Biology
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#110
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#29
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Genetics
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#671
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#217
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Biology
Deborah Nickerson's Degrees
- PhD Genetics University of Washington
- Bachelors Biology University of California, Santa Cruz
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Why Is Deborah Nickerson Influential?
(Suggest an Edit or Addition)According to Wikipedia, Deborah Ann "Debbie" Nickerson was an American human genomics researcher. She was professor of genome sciences at the University of Washington. Nickerson founded and directed of one of the five clinical sites of the Gregor Consortium and was a major contributor to many genomics projects, including the Human Genome Project and the International HapMap Project.
Deborah Nickerson'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
- A global reference for human genetic variation (2015) (11857)
- An integrated map of genetic variation from 1,092 human genomes (2012) (7565)
- Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids (2010) (3485)
- Exome sequencing identifies the cause of a Mendelian disorder (2009) (2068)
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations (2012) (2002)
- The contribution of de novo coding mutations to autism spectrum disorder (2014) (1988)
- Exome sequencing as a tool for Mendelian disease gene discovery (2011) (1672)
- Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. (2004) (1637)
- Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes (2012) (1604)
- Targeted capture and massively parallel sequencing of 12 human exomes (2009) (1536)
- Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. (2005) (1407)
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome (2010) (1357)
- Mapping and sequencing of structural variation from eight human genomes (2008) (1195)
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders (2012) (1140)
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (2011) (1025)
- PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. (1997) (1010)
- Variation is the spice of life (2001) (997)
- Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants (2012) (849)
- Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. (2012) (843)
- Loss-of-function mutations in APOC3, triglycerides, and coronary disease. (2014) (799)
- Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program (2019) (785)
- Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes (2009) (711)
- Mapping complex disease loci in whole-genome association studies (2004) (662)
- The utility of single nucleotide polymorphisms in inferences of population history (2003) (636)
- Population analysis of large copy number variants and hotspots of human genetic disease. (2009) (589)
- Copy number variation detection and genotyping from exome sequence data (2012) (555)
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. (2015) (552)
- Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. (1998) (519)
- Sequence variation in the human angiotensin converting enzyme (1999) (509)
- DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene (1998) (507)
- Population History and Natural Selection Shape Patterns of Genetic Variation in 132 Genes (2004) (505)
- Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. (1998) (473)
- Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction (2014) (426)
- Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies (2008) (416)
- Apolipoprotein E variation at the sequence haplotype level: implications for the origin and maintenance of a major human polymorphism. (2000) (391)
- Actionable, pathogenic incidental findings in 1,000 participants' exomes. (2013) (359)
- Mining SNPs from EST databases. (1999) (352)
- Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels. (2005) (339)
- Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. (2011) (331)
- Definition and clinical importance of haplotypes. (2005) (331)
- Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans (2003) (322)
- Actionable exomic incidental findings in 6503 participants: challenges of variant classification (2015) (308)
- De novo rates and selection of large copy number variation. (2010) (303)
- Evidence for substantial fine-scale variation in recombination rates across the human genome (2004) (295)
- Inactivating mutations in NPC1L1 and protection from coronary heart disease. (2014) (289)
- Automated DNA diagnostics using an ELISA-based oligonucleotide ligation assay. (1990) (286)
- Recurrent de novo mutations implicate novel genes underlying simplex autism risk (2014) (285)
- Association of polymorphisms in the CRP gene with circulating C-reactive protein levels and cardiovascular events. (2006) (284)
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (2012) (283)
- Discovery of common and rare genetic risk variants for colorectal cancer (2018) (279)
- Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms (2011) (270)
- Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers (2011) (261)
- Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis. (2008) (258)
- Mutational and selective effects on copy-number variants in the human genome (2007) (258)
- Genomic regions exhibiting positive selection identified from dense genotype data. (2005) (256)
- Identification, Replication, and Functional Fine-Mapping of Expression Quantitative Trait Loci in Primary Human Liver Tissue (2011) (249)
- Systematic assessment of copy number variant detection via genome-wide SNP genotyping (2008) (246)
- Genome-Wide Association of Lipid-Lowering Response to Statins in Combined Study Populations (2010) (238)
- Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. (2016) (234)
- A Multivariate Genome-Wide Association Analysis of 10 LDL Subfractions, and Their Response to Statin Treatment, in 1868 Caucasians (2014) (228)
- TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome (2012) (227)
- Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis (2012) (222)
- Genetic ancestry in lung-function predictions. (2010) (222)
- Massively parallel exon capture and library-free resequencing across 16 genomes (2009) (209)
- Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins (2014) (207)
- A statin-dependent QTL for GATM expression is associated with statin-induced myopathy (2013) (206)
- Completing the map of human genetic variation (2007) (199)
- Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. (2014) (197)
- Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems (2014) (196)
- Massively parallel sequencing and rare disease. (2010) (194)
- Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. (2008) (193)
- Pattern of sequence variation across 213 environmental response genes. (2004) (188)
- Single-nucleotide evolutionary constraint scores highlight disease-causing mutations (2010) (188)
- Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. (2013) (186)
- Phenotypic predictors of response to simvastatin therapy among African-Americans and Caucasians: the Cholesterol and Pharmacogenetics (CAP) Study. (2006) (183)
- Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene. (2000) (182)
- Cryptic transmission of SARS-CoV-2 in Washington State (2020) (180)
- Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. (2004) (180)
- Recombinational and mutational hotspots within the human lipoprotein lipase gene. (2000) (178)
- Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome (2011) (175)
- Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. (2014) (171)
- Somatic mutations in cerebral cortical malformations. (2014) (171)
- Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. (2012) (170)
- Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products. (1994) (162)
- Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. (2012) (159)
- denovo-db: a compendium of human de novo variants (2016) (159)
- Automating sequence-based detection and genotyping of SNPs from diploid samples (2006) (157)
- Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. (2016) (155)
- Genetic Variation Is Associated With C-Reactive Protein Levels in the Third National Health and Nutrition Examination Survey (2006) (154)
- LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. (2016) (154)
- Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. (2014) (153)
- Variation in the 3-Hydroxyl-3-Methylglutaryl Coenzyme A Reductase Gene Is Associated With Racial Differences in Low-Density Lipoprotein Cholesterol Response to Simvastatin Treatment (2008) (147)
- Multiple rare alleles at LDLR and APOA5 confer risk for early-onset myocardial infarction (2014) (147)
- Evidence for Limited Early Spread of COVID-19 Within the United States, January–February 2020 (2020) (146)
- Paraoxonase Activity, But Not Haplotype Utilizing the Linkage Disequilibrium Structure, Predicts Vascular Disease (2003) (144)
- Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. (2005) (144)
- Increasing the information content of STS-based genome maps: identifying polymorphisms in mapped STSs. (1996) (143)
- Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. (2016) (143)
- Genetic Loci Associated With Plasma Concentration of Low-Density Lipoprotein Cholesterol, High-Density Lipoprotein Cholesterol, Triglycerides, Apolipoprotein A1, and Apolipoprotein B Among 6382 White Women in Genome-Wide Analysis With Replication (2008) (141)
- A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. (2009) (139)
- The patterns of natural variation in human genes. (2005) (136)
- Insights into genetics, human biology and disease gleaned from family based genomic studies (2019) (135)
- Localization of a small genomic region associated with elevated ACE. (2000) (133)
- Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. (2013) (132)
- Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. (2013) (131)
- Methods for genomic partitioning. (2009) (130)
- PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent. (2014) (127)
- Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era (2012) (125)
- RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease (2014) (123)
- Detection of structural variants and indels within exome data (2011) (123)
- Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. (2016) (122)
- Identification of candidate coding region single nucleotide polymorphisms in 165 human genes using assembled expressed sequence tags. (1999) (122)
- The Extracellular RNA Communication Consortium: Establishing Foundational Knowledge and Technologies for Extracellular RNA Research (2019) (120)
- A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome (2016) (120)
- Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. (2018) (117)
- Linkage Disequilibrium in Wild Mice (2007) (117)
- Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). (2013) (117)
- DNA Banking for Epidemiologic Studies: A Review of Current Practices (2002) (116)
- Cryptic transmission of SARS-CoV-2 in Washington state (2020) (116)
- Mendelian Gene Discovery: Fast and Furious with No End in Sight. (2019) (112)
- Exome Sequencing and Genome-Wide Linkage Analysis in 17 Families Illustrate the Complex Contribution of TTN Truncating Variants to Dilated Cardiomyopathy (2013) (111)
- De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. (2015) (111)
- The Centers for Mendelian Genomics: A new large‐scale initiative to identify the genes underlying rare Mendelian conditions (2012) (110)
- Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. (2013) (110)
- Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. (2012) (107)
- Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. (2013) (100)
- Single-well genotyping of diallelic sequence variations by a two-color ELISA-based oligonucleotide ligation assay. (1996) (98)
- AmpliTaq DNA polymerase, FS dye-terminator sequencing: analysis of peak height patterns. (1996) (97)
- Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium (2020) (96)
- Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole genome sequencing studies at scale (2020) (93)
- Cladistic structure within the human Lipoprotein lipase gene and its implications for phenotypic association studies. (2000) (92)
- Early Detection of Covid-19 through a Citywide Pandemic Surveillance Platform (2020) (91)
- De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects (2016) (90)
- MAT2A mutations predispose individuals to thoracic aortic aneurysms. (2015) (89)
- Estimating coverage and power for genetic association studies using near-complete variation data (2008) (87)
- Genetic ancestry, population sub-structure, and cardiovascular disease-related traits among African-American participants in the CARDIA Study (2007) (87)
- Automating resequencing-based detection of insertion-deletion polymorphisms (2006) (86)
- Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants (2013) (86)
- Allele Frequency Matching Between SNPs Reveals an Excess of Linkage Disequilibrium in Genic Regions of the Human Genome (2006) (85)
- Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features (2015) (84)
- Contributions of 18 additional DNA sequence variations in the gene encoding apolipoprotein E to explaining variation in quantitative measures of lipid metabolism. (2002) (84)
- Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement (2016) (83)
- Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies (2018) (82)
- Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. (2014) (81)
- Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. (2016) (81)
- PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation (2016) (81)
- Novel paraoxonase (PON1) nonsense and missense mutations predicted by functional genomic assay of PON1 status. (2003) (78)
- Tracing Sub-Structure in the European American Population with PCA-Informative Markers (2008) (77)
- Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes (2018) (77)
- Efficient selection of tagging single-nucleotide polymorphisms in multiple populations (2006) (77)
- Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project. (2016) (77)
- Polymorphisms of the IL1-Receptor Antagonist Gene (IL1RN) Are Associated With Multiple Markers of Systemic Inflammation (2008) (76)
- Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. (2014) (76)
- Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset. (2014) (76)
- Oligonucleotide Ligation Assay for Detecting Mutations in the Human Immunodeficiency Virus Type 1 polGene That Are Associated with Resistance to Zidovudine, Didanosine, and Lamivudine (1998) (74)
- FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. (2016) (74)
- A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. (2012) (74)
- Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. (2018) (72)
- Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload (2015) (72)
- Association of apolipoprotein A5 variants with LDL particle size and triglyceride in Japanese Americans. (2004) (71)
- Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. (2014) (71)
- Genome-Wide Association Study Identifies Genetic Loci Associated with Iron Deficiency (2009) (71)
- De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders (2018) (70)
- Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene expression in the airway epithelium (2020) (69)
- Mutations in ECEL1 cause distal arthrogryposis type 5D. (2013) (68)
- Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project. (2013) (68)
- Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model (2018) (68)
- Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2017) (68)
- Combined Influence of LDLR and HMGCR Sequence Variation on Lipid-Lowering Response to Simvastatin (2010) (68)
- Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. (2014) (67)
- Mutation of ATF6 causes autosomal recessive achromatopsia (2015) (67)
- Novel Rare Variants in Congenital Cardiac Arrhythmia Genes are Frequent in Drug-induced Torsades de Pointes (2012) (67)
- Resequencing Study Confirms Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis. (2019) (66)
- Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. (2017) (65)
- Variation in the TLR10/TLR1/TLR6 Locus is the Major Genetic Determinant of Inter-Individual Difference in TLR1/2-Mediated Responses (2012) (65)
- Comparison of Symptoms and RNA Levels in Children and Adults With SARS-CoV-2 Infection in the Community Setting. (2021) (65)
- Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. (2016) (64)
- “Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype (2013) (64)
- GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. (2019) (63)
- Identification and physical mapping of a polymorphic human T cell receptor V beta gene with a frequent null allele (1993) (62)
- Peak height variations in automated sequencing of PCR products using Taq dye-terminator chemistry. (1995) (62)
- Challenges and disparities in the application of personalized genomic medicine to populations with African ancestry (2016) (62)
- Sequence variation and linkage disequilibrium in the human T-cell receptor beta (TCRB) locus. (2001) (61)
- Association between patterns of nucleotide variation across the three fibrinogen genes and plasma fibrinogen levels: the Coronary Artery Risk Development in Young Adults (CARDIA) study (2006) (60)
- Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data (2022) (60)
- Identification of clusters of biallelic polymorphic sequence-tagged sites (pSTSs) that generate highly informative and automatable markers for genetic linkage mapping. (1992) (57)
- The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster (2004) (56)
- Desmoplakin Variants Are Associated with Idiopathic Pulmonary Fibrosis. (2016) (56)
- Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension (2016) (54)
- Mutations in KCTD1 cause scalp-ear-nipple syndrome. (2013) (54)
- Redefining the Etiologic Landscape of Cerebellar Malformations. (2019) (53)
- Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. (2016) (53)
- Targeted long-read sequencing identifies missing disease-causing variation. (2021) (52)
- A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration (2011) (52)
- Exome Sequencing Reveals Novel Rare Variants in the Ryanodine Receptor and Calcium Channel Genes in Malignant Hyperthermia Families (2013) (51)
- Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. (2014) (51)
- De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population (2020) (51)
- Characteristics of COVID-19 in Homeless Shelters (2020) (51)
- Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. (2013) (51)
- Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. (2016) (50)
- Common Coding Variants of the HNF1A Gene Are Associated With Multiple Cardiovascular Risk Phenotypes in Community-Based Samples of Younger and Older European-American Adults: The Coronary Artery Risk Development in Young Adults Study and The Cardiovascular Health Study (2009) (50)
- Utilizing Graph Theory to Select the Largest Set of Unrelated Individuals for Genetic Analysis (2013) (50)
- Soluble P-Selectin, SELP Polymorphisms, and Atherosclerotic Risk in European-American and African-African Young Adults: The Coronary Artery Risk Development in Young Adults (CARDIA) Study (2008) (49)
- Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. (2015) (49)
- Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. (2014) (49)
- Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival. (2016) (49)
- Testing the feasibility of DNA typing for human identification by PCR and an oligonucleotide ligation assay. (1996) (49)
- Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. (2015) (48)
- A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. (2014) (48)
- Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. (2017) (46)
- LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections. (2018) (46)
- Variation in LPA Is Associated with Lp(a) Levels in Three Populations from the Third National Health and Nutrition Examination Survey (2011) (44)
- Exome Sequencing in Suspected Monogenic Dyslipidemias (2015) (44)
- Erratum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants (Nature (2013) 493 (216-220) DOI: 10.1038/nature116) (2013) (44)
- Rare Variation Facilitates Inferences of Fine-Scale Population Structure in Humans (2014) (43)
- Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. (2018) (43)
- Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences (2019) (43)
- Associations between common fibrinogen gene polymorphisms and cardiovascular disease in older adults (2008) (43)
- Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss (2018) (43)
- Preliminary support for a "dry swab, extraction free" protocol for SARS-CoV-2 testing via RT-qPCR. (2020) (43)
- Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. (2016) (42)
- Association between celiac disease and iron deficiency in Caucasians, but not non-Caucasians. (2013) (42)
- Imputation of coding variants in African Americans: better performance using data from the exome sequencing project (2013) (41)
- Direct detection of null alleles in SNP genotyping data. (2006) (41)
- An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. (2016) (41)
- Genetic and Nongenetic Factors Associated with Protein Abundance of Flavin-Containing Monooxygenase 3 in Human Liver (2017) (40)
- Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. (2013) (40)
- Association of exome sequences with plasma C-reactive protein levels in >9000 participants. (2015) (40)
- Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms. (2018) (40)
- MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. (2018) (39)
- Monoallelic and Biallelic CREB3L1 Variant Causes Mild and Severe Osteogenesis Imperfecta, Respectively (2017) (39)
- Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders (2019) (38)
- Challenges and solutions for gene identification in the presence of familial locus heterogeneity (2014) (38)
- Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability (2018) (37)
- Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome (2016) (37)
- SNPing in the human genome. (2001) (37)
- Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis (2015) (37)
- Rare A2ML1 variants confer susceptibility to otitis media (2015) (37)
- Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole‐Exome Sequencing (2016) (36)
- Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. (2020) (36)
- Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection. (2017) (36)
- TagSNP analyses of the PON gene cluster: effects on PON1 activity, LDL oxidative susceptibility, and vascular disease Published, JLR Papers in Press, February 11, 2006. (2006) (36)
- Comparison of exon 5 sequences from 35 class I genes of the BALB/c mouse (1989) (35)
- Whole Exome Sequencing in Atrial Fibrillation (2016) (35)
- Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study (2017) (34)
- Viral genomes reveal patterns of the SARS-CoV-2 outbreak in Washington State (2020) (34)
- Hepatic Abundance and Activity of Androgen- and Drug-Metabolizing Enzyme UGT2B17 Are Associated with Genotype, Age, and Sex (2018) (33)
- Evidence for Involvement of GNB1L in Autism (2011) (33)
- Polymorphisms in the ICAM1 gene predict circulating soluble intercellular adhesion molecule-1(sICAM-1). (2011) (33)
- USF1 Gene Variants, Cardiovascular Risk, and Mortality in European Americans: Analysis of Two US Cohort Studies (2007) (32)
- Genetic analysis of CHARGE syndrome identifies overlapping molecular biology (2017) (32)
- MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. (2019) (32)
- Associations between SARS-CoV-2 variants and risk of COVID-19 hospitalization among confirmed cases in Washington State: a retrospective cohort study (2021) (32)
- LPA and PLG Sequence Variation and Kringle IV-2 Copy Number in Two Populations (2008) (32)
- FUT2 Variants Confer Susceptibility to Familial Otitis Media. (2018) (32)
- Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections. (2014) (31)
- Sequencing of sporadic Attention‐Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder (2017) (31)
- ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients (2016) (31)
- Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory. (2018) (31)
- TCIRG1‐Associated Congenital Neutropenia (2014) (31)
- Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome (2017) (31)
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- Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly (2019) (18)
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- Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease (2020) (10)
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- Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain (2020) (7)
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- Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration (2018) (2)
- Resequencing Study Con fi rms That Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis (2019) (2)
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- Abstract 5230: Large scale whole genome sequencing with imputation into GWAS improves our understanding of the genetic architecture of colorectal cancer (2016) (1)
- Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (1)
- Exome Sequencing Identifies a GNPAT Variant Associated with Severe Iron Overload in HFE C282Y Homozygous Men with Extreme Phenotypes; Possible Role in Regulation of Hepcidin Expression (2014) (1)
- Abstract 25: Epigenome-Wide DNA Methylation Analysis Reveals Novel Hematologic Trait Associations for African Americans in The Jackson Heart Study (2020) (1)
- Novel Structural Variants Originating in F8 Non-Coding Regions in Previously Unresolved Cases of Severe Hemophilia A (2018) (1)
- Frequency-Matching SNPs Reveals Extended Linkage Disequilibrium in Genic Regions (2005) (1)
- Association of Helicobacter Pylori Infection with Iron Deficiency in Asians and Pacific Islanders but not in Caucasians, African Americans, or Hispanics (2015) (1)
- Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation (2022) (1)
- The Genetic Landscape of Familial Pulmonary Fibrosis. (2023) (1)
- Mutations in GET4 disrupt the transmembrane domain recognition complex pathway (2020) (1)
- The role of CDHR3 in susceptibility to otitis media (2021) (1)
- Exome sequencing identifies variants in infants with sacral agenesis (2022) (1)
- Congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex (789.3) (2014) (1)
- Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program (2022) (1)
- Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13 (2021) (1)
- Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program (2021) (1)
- SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections (2019) (0)
- Insights into genetics, human biology and disease gleaned from family based genomic studies (2019) (0)
- Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts (2018) (0)
- Author Correction: Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology (2022) (0)
- Association of CAV2 and TMC6 variants with lung function. (2015) (0)
- eP098: Exome sequencing of >500 individuals with brain malformation phenotypes reveals marked genetic heterogeneity (2022) (0)
- Erratum: A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome ((The American Journal of Human Genetics (2012) 90 (907-914)) (2012) (0)
- Supplementary Material (nature09270-s1) (2012) (0)
- De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay (2015) (0)
- Abstract 4489: Using functional data from Roadmap Epigenomics to inform analysis of rare variants linked to gene expression in a large colorectal cancer study (2016) (0)
- Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network (2015) (0)
- Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2020) (0)
- Primary results for CAV2 from exome discovery and validation phases. (2015) (0)
- Abstract 11082: Exome Sequencing Implicates the Burden of Rare Potassium Channel Variants in the Risk of Drug Induced Long QT Syndrome (2013) (0)
- Final Report-DE-FG 03-97 ER 62385 Principal Investigator : (2003) (0)
- Participation in a national diagnostic research study: assessing the patient experience (2023) (0)
- Response to Hall et al. (2020) (0)
- Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes (2021) (0)
- Genetic Variation In The TLR10/TLR1/TLR6 Locus Is The Predominant Genetic Modifier Of Inter-Individual Differences In TLR1/2-Mediated Responses In Vitro (2011) (0)
- Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations. (2022) (0)
- Subject Index Vol. 66, 2008 (2008) (0)
- Genetic analysis of CHARGE syndrome identifies overlapping molecular biology (2018) (0)
- SCN1A Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families (2022) (0)
- The functional impact of rare variation across the regulatory cascade (2022) (0)
- nssystem for determination of genetic diseases (1991) (0)
- Whole-Exome Sequencing and hiPSC Cardiomyocyte Models Identify MYRIP, TRAPPC11, and SLC27A6 of Potential Importance to Left Ventricular Hypertrophy in an African Ancestry Population (2021) (0)
- A system of DNA Amplification for detection of genetic diseases by a thermostable ligase (1991) (0)
- General Introduction to Genomic Technologies with Human Disease Examples (2016) (0)
- Investigating Ancient Hominin ABO Haplotype Structure From Modern Populations (2018) (0)
- Abstract 16825: Functional Analysis of Whole Exome Sequencing Candidate Genes for Left Ventricular Hypertrophy Demonstrate Changes in Cardiac Hypertrophic Signaling (2018) (0)
- Running title: Stitziel et al., Exome Sequencing in Monogenic Dyslipidemias (2015) (0)
- Novel KITLG regulatory variants are associated with lung function in African American children with asthma (2020) (0)
- De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019) (0)
- Short title: Genomic Sequencing Technologies (2016) (0)
- SARS-CoV-2 Screening Testing in Schools: A Comparison of School- Vs. Home-Based Collection Methods (2022) (0)
- Bi-allelic variants in INTS11 are associated with a complex neurological disorder. (2023) (0)
- Deep-coverage whole genome sequences and blood lipids among 16,324 individuals (2018) (0)
- Erratum: Statin-induced expression change of INSIG1 in lymphoblastoid cell lines correlates with plasma triglyceride statin response in a sex-specific manner (2016) (0)
- Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes (2018) (0)
- Author Correction: Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (2023) (0)
- Abstract 11837: A Vascular Endothelial Growth Factor a (VEGFA) Genetic Variant is Associated With Improved Ventricular Function and Transplant-Free Survival After Surgery for Non-Syndromic Congenital Heart Defects (2014) (0)
- Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale (2020) (0)
- Correction: Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13 (2021) (0)
- Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders (2019) (0)
- chronic pancreatitis HP : hereditary pancreatitis Penetrance : the probability that an individual with a particular genotype expresses a particular phenotype Expressed pseudogene : a transition state between a functioning duplicated gene and a nonfunctional pseudogene INTRODUCTION Chronic pancreatit (2012) (0)
- Abstract 15169: De Novo Variants of USP10 in Early Onset Bicuspid Aortic Valve Disease (2020) (0)
- Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium (2021) (0)
- Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment (2023) (0)
- Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (2018) (0)
- Whole genome sequence analysis of pulmonary function and COPD in 19,996 multiethnic participants. (2020) (0)
- Power to discover TMC6 with aSKAT-O for a test of size α under the actual ages of the individuals in the extreme samples in this study. (2015) (0)
- 8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer (2020) (0)
- Genetics of Latin American Diversity (GLAD) Project: insights into population genetics and association studies in recently admixed groups in the Americas (2023) (0)
- Front Cover, Volume 43, Issue 10 (2019) (0)
- Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model (2018) (0)
- Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing (2017) (0)
- A Multi-Omics Approach to X-Chromosome Inactivation (XCI) Identifies Severe Xci Skewing in Female Genetic Carriers of Hemophilia (2020) (0)
- Abstract 53: Missense Pathogenic Variants in ANO1 Predispose to Moyamoya Disease (2020) (0)
- Identifylng DNA polymorphisms in humanTCRA/D variable genes by direct sequencing of PCR products (2007) (0)
- Abstract 16205: Oligogenic Inheritance in Dilated Cardiomyopathy is Illustrated in Non-segregating Lamin A/C (LMNA) Pedigrees (2016) (0)
- ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment (2021) (0)
- Diagnostic Accuracy of an At-Home, Rapid Self-Test for Influenza (Preprint) (0)
- Sequencing of Human Exomes Evolution and Functional Impact of Rare Coding Variation from Deep (2013) (0)
- Differences in Clinical Manifestations of Hemochromatosis in Hfe C282Y Homozygotes with Extreme High and Low Iron Phenotypes (2016) (0)
- Exome sequencing identifies genetic variants in anophthalmia and microphthalmia (2022) (0)
- Common Genetic Variants In The Fas/FasL Pathway Modify The Risk Of Acute Lung Injury (2010) (0)
- Finnish-TypeAspartyiglucosaminuriaDetected by OligonucleotideLigation Assay (1995) (0)
- A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment (2018) (0)
- C-C5-05: Genetic Risk Factors: Idiopathic Thrombocytopenic Purpura following the First Dose of Measles-Mumps-Rubella Vaccination in Children (2011) (0)
- A case for expanding carrier testing to include actionable X‐linked disorders (2018) (0)
- Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability (2018) (0)
- Title 1 Type 2 and interferon inflammation strongly regulate SARS-CoV-2 related gene 2 expression in the airway epithelium (2020) (0)
- Structural variation across 138,134 samples in the TOPMed consortium (2023) (0)
- Precision medicine for developmental and epileptic encephalopathies in Africa: strategies for a resource-limited setting. (2022) (0)
- Abstract 140: Heterozygous Missense Mutations in PLEKHO2 Predispose to Thoracic Aortic Aneurysms and Dissections (2019) (0)
- Abstract 1300: Genetic predictors of gene expression associated with risk of colorectal cancer (2017) (0)
- Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly (2019) (0)
- ABSTRACTS FROM THE TWENTY-SECOND ANNUAL MEETING OF THE INTERNATIONAL GENETIC EPIDEMIOLOGY SOCIETY (2013) (0)
- Contents Vol. 66, 2008 (2008) (0)
- Exome Sequencing in Hfe C282Y Homozygotes with Extreme Hepatic Iron Overload Reveals Modifying Genes for the Development of Cirrhosis (2016) (0)
- Genetic Risks For Ventilator-Associated Pneumonia In Critically Ill Trauma Patients: A Genome Wide Association Study (2011) (0)
- VarSight: prioritizing clinically reported variants with binary classification algorithms (2019) (0)
- Human SMAD4 Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease. (2021) (0)
- Rare loss of function variants in candidate genes and risk of colorectal cancer (2018) (0)
- Rare loss of function variants in candidate genes and risk of colorectal cancer (2018) (0)
- DNA amplification for the detection of genetic diseases using thermostable ligase (1991) (0)
- Human Genome Structural Variation January 23 , 2006 (2007) (0)
- Final Report - DE-FG03-97ER62385 (2003) (0)
- Structural variation across 138,134 samples in the TOPMed consortium (2023) (0)
- Abstract 1304: The contribution of rare and low-frequency variants to colorectal cancer heritability (2017) (0)
- Results of whole-genome analysis from National Children's Study (NCS) (2014) (0)
- Title Association Between Celiac Disease and Iron Deficiency in Caucasians , but not Non-Caucasians Permalink (2013) (0)
- DNA amplification system mediated thermostable ligase for the detection of genetic diseases. (1991) (0)
- IDENTIFICATION OF GENES AND VARIANT ALLELES ASSOCIATED WITH IRON OVERLOAD IN HEMOCHROMATOSIS HFE C282Y HOMOZYGOTES (2013) (0)
- Mutation of ATF6 causes autosomal recessive achromatopsia (2015) (0)
- Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations (2018) (0)
- A Genome-Wide Screen Identifies Common Variants Accounting For Inter-Individual Differences In Toll-Like Receptor 2 Signaling (2012) (0)
- Abstract 463: Heterozygous Missense Mutations in PLEKHO2 Predispose to Thoracic Aortic Aneurysms and Dissections (2019) (0)
- Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer (2019) (0)
- Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance (2018) (0)
- Contents Vol. 74, 2012 (2013) (0)
- Institution and Location Degree Years Scientific Field (2015) (0)
- Fine-structure of linkage disequilibrium in candidate genes for cardiovascular disease (2001) (0)
- Variant-specific inflation factors for assessing population stratification at the phenotypic variance level (2021) (0)
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