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Author Details

Jeffrey G Reid
Regeneron Pharmaceuticals, Inc.
2007
76
44
PMIDPaper TitleJournal TitlePublished Year
36807635Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes.Nature2023
36807635Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes.Nature2023
34906480Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.Genet Med2022
35999217Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.Nat Commun2022
35939579Germline Mutations in <i>CIDEB</i> and Protection against Liver Disease.N Engl J Med2022
36450978Common and rare variant associations with clonal haematopoiesis phenotypes.Nature2022
34906480Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.Genet Med2022
35149777UGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab.Pharmacogenomics J2022
36450978Common and rare variant associations with clonal haematopoiesis phenotypes.Nature2022
35939579Germline Mutations in <i>CIDEB</i> and Protection against Liver Disease.N Engl J Med2022
35999217Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.Nat Commun2022
35149777UGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab.Pharmacogenomics J2022
33300997Sparse Project VCF: efficient encoding of population genotype matrices.Bioinformatics2021
33542107Heterozygosity for a Pathogenic Variant in <i>SLC12A3</i> That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium.J Am Soc Nephrol2021
33692434Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.Sci Rep2021
34115965Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.Am J Hum Genet2021
34210852Sequencing of 640,000 exomes identifies <i>GPR75</i> variants associated with protection from obesity.Science2021
33655273A catalog of associations between rare coding variants and COVID-19 outcomes.medRxiv2021
34184762Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals.Genet Epidemiol2021
33300997Sparse Project VCF: efficient encoding of population genotype matrices.Bioinformatics2021
33432171Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.Nat Med2021
34662886Exome sequencing and analysis of 454,787 UK Biobank participants.Nature2021
33655273A catalog of associations between rare coding variants and COVID-19 outcomes.medRxiv2021
33542107Heterozygosity for a Pathogenic Variant in <i>SLC12A3</i> That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium.J Am Soc Nephrol2021
33692434Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.Sci Rep2021
34662886Exome sequencing and analysis of 454,787 UK Biobank participants.Nature2021
34184762Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals.Genet Epidemiol2021
34210852Sequencing of 640,000 exomes identifies <i>GPR75</i> variants associated with protection from obesity.Science2021
34115965Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.Am J Hum Genet2021
33432171Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.Nat Med2021
32498804Limitations of Contemporary Guidelines for Managing Patients at High Genetic Risk of Coronary Artery Disease.J Am Coll Cardiol2020
31836692Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.Diabetes2020
33087929Exome sequencing and characterization of 49,960 individuals in the UK Biobank.Nature2020
32697297Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population.JAMA Psychiatry2020
32498804Limitations of Contemporary Guidelines for Managing Patients at High Genetic Risk of Coronary Artery Disease.J Am Coll Cardiol2020
31836692Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.Diabetes2020
33087929Exome sequencing and characterization of 49,960 individuals in the UK Biobank.Nature2020
32697297Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population.JAMA Psychiatry2020
30304524Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.Hum Mol Genet2019
31583275Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment.Neurol Genet2019
30304524Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.Hum Mol Genet2019
31583275Epidemiology of DYT1 dystonia: Estimating prevalence via genetic ascertainment.Neurol Genet2019
28726809Genomic diagnostics within a medically underserved population: efficacy and implications.Genet Med2018
28726809Genomic diagnostics within a medically underserved population: efficacy and implications.Genet Med2018
30029678Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.Genome Med2018
30354297Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.Circ Genom Precis Med2018
30545964The transcription factor POU3F2 regulates a gene coexpression network in brain tissue from patients with psychiatric disorders.Sci Transl Med2018
29899519Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.Nat Commun2018
30646163Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.JAMA Netw Open2018
29562163A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.N Engl J Med2018
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Co-authored papers 36
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University of Maryland School of Medicine
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University of Florida, College of Medicine-Jacksonville
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Co-authored papers 10
Center for Systems Genomics, Pennsylvania State University, University Park
Co-authored papers 10
Yale School of Medicine
Co-authored papers 9
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Co-authored papers 8
Icahn School of Medicine at Mount Sinai
Co-authored papers 8
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Regeneron Pharmaceuticals Inc.
Co-authored papers 8
MD Anderson Cancer Center
Co-authored papers 7
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