Alan R Shuldiner


Ontology type: schema:Person     


Person Info

NAME

Alan R

SURNAME

Shuldiner

Publications in SciGraph latest 50 shown

  • 2022-06-10 Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2022-05-30 High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease in NATURE GENETICS
  • 2022-04-28 Pharmacogenomics: the low-hanging fruit in the personalized medicine tree in HUMAN GENETICS
  • 2022-04-07 An Amish founder population reveals rare-population genetic determinants of the human lipidome in COMMUNICATIONS BIOLOGY
  • 2022-03-17 Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B in BMC CARDIOVASCULAR DISORDERS
  • 2022-03-03 Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease in NATURE GENETICS
  • 2022-02-11 UGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab in THE PHARMACOGENOMICS JOURNAL
  • 2021-11-04 Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes in NATURE GENETICS
  • 2021-10-18 Exome sequencing and analysis of 454,787 UK Biobank participants in NATURE
  • 2021-09-13 Rare genetic coding variants associated with human longevity and protection against age-related diseases in NATURE AGING
  • 2021-07-27 GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms in NATURE COMMUNICATIONS
  • 2021-07-06 Publisher Correction: A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids in NATURE COMMUNICATIONS
  • 2021-06-28 A multi-ethnic epigenome-wide association study of leukocyte DNA methylation and blood lipids in NATURE COMMUNICATIONS
  • 2021-06-15 Genome sequencing unveils a regulatory landscape of platelet reactivity in NATURE COMMUNICATIONS
  • 2021-04-29 Multiple dimensions of stress vs. genetic effects on depression in TRANSLATIONAL PSYCHIATRY
  • 2021-03-10 Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease in SCIENTIFIC REPORTS
  • 2021-01-20 The role of phenotype-based search approaches using public online databases in diagnostics of Mendelian disorders in GENETICS IN MEDICINE
  • 2020-10-21 Exome sequencing and characterization of 49,960 individuals in the UK Biobank in NATURE
  • 2020-09-04 Assessment of the potential role of natural selection in type 2 diabetes and related traits across human continental ancestry groups: comparison of phenotypic with genotypic divergence in DIABETOLOGIA
  • 2020-08-17 When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation in GENETICS IN MEDICINE
  • 2019-09-16 Clinical and genetic validity of quantitative bipolarity in TRANSLATIONAL PSYCHIATRY
  • 2019-05-11 A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant in JOURNAL OF CLINICAL IMMUNOLOGY
  • 2019-03-22 A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4 in JOURNAL OF HUMAN GENETICS
  • 2019-01-07 Polyherbal dietary supplementation for prediabetic adults: study protocol for a randomized controlled trial in TRIALS
  • 2018-09-20 Genome-wide association analysis of common genetic variants of resistant hypertension in THE PHARMACOGENOMICS JOURNAL
  • 2018-05-08 Evaluation of WISP1 as a candidate gene for bone mineral density in the Old Order Amish in SCIENTIFIC REPORTS
  • 2018-04-25 Author Correction: A population-specific reference panel empowers genetic studies of Anabaptist populations in SCIENTIFIC REPORTS
  • 2017-10-12 Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial in GENETICS IN MEDICINE
  • 2017-07-21 Genetics of Type 2 Diabetes: From Candidate Genes to Genome-Wide Association Analysis in PRINCIPLES OF DIABETES MELLITUS
  • 2017-07-20 A population-specific reference panel empowers genetic studies of Anabaptist populations in SCIENTIFIC REPORTS
  • 2017-07-20 Genomic diagnostics within a medically underserved population: efficacy and implications in GENETICS IN MEDICINE
  • 2017-02-09 Genetics of Type 2 Diabetes: From Candidate Genes to Genome-Wide Association Analysis in PRINCIPLES OF DIABETES MELLITUS
  • 2016-12-05 Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation in NATURE GENETICS
  • 2016-06-15 Genetics of Type 2 Diabetes: From Candidate Genes to Genome-Wide Association Analysis in PRINCIPLES OF DIABETES MELLITUS
  • 2016-04-12 Historical Overview of Gene Discovery Methodologies in Type 2 Diabetes in THE GENETICS OF TYPE 2 DIABETES AND RELATED TRAITS
  • 2016-02-01 New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk in NATURE COMMUNICATIONS
  • 2015-12 The IGNITE network: a model for genomic medicine implementation and research in BMC MEDICAL GENOMICS
  • 2015-03-26 Mapping Genes in Isolated Populations: Lessons from the Old Order Amish in GENOME MAPPING AND GENOMICS IN HUMAN AND NON-HUMAN PRIMATES
  • 2015-02-11 Genetic studies of body mass index yield new insights for obesity biology in NATURE
  • 2015-02-02 Elabela-Apelin Receptor Signaling Pathway is Functional in Mammalian Systems in SCIENTIFIC REPORTS
  • 2014-10-28 Effect of zinc supplementation on insulin secretion: interaction between zinc and SLC30A8 genotype in Old Order Amish in DIABETOLOGIA
  • 2014-10-05 Defining the role of common variation in the genomic and biological architecture of adult human height in NATURE GENETICS
  • 2014-07-20 Calcified Granulomatous Disease: Occupational Associations and Lack of Familial Aggregation in LUNG
  • 2014-06-22 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization in NATURE GENETICS
  • 2014-03-07 Genome-wide association studies identified novel loci for non-high-density lipoprotein cholesterol and its postprandial lipemic response in HUMAN GENETICS
  • 2013-10-06 Common variants associated with plasma triglycerides and risk for coronary artery disease in NATURE GENETICS
  • 2013-06-25 Pharmacogenomics of Anti-platelet and Anti-coagulation Therapy in CURRENT CARDIOLOGY REPORTS
  • 2013-06-11 Purine Pathway Implicated in Mechanism of Resistance to Aspirin Therapy: Pharmacometabolomics‐Informed Pharmacogenomics in CLINICAL PHARMACOLOGY & THERAPEUTICS
  • 2013-05-23 Pharmacogenomics of anti-platelet therapy: how much evidence is enough for clinical implementation? in JOURNAL OF HUMAN GENETICS
  • 2013-05-22 Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C19 Genotype and Clopidogrel Therapy: 2013 Update in CLINICAL PHARMACOLOGY & THERAPEUTICS
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