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Author Details

Alan R Shuldiner
University of Maryland School of Medicine
1985
485
105
PMIDPaper TitleJournal TitlePublished Year
36927983Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians.Eur J Hum Genet2023
37608471Pharmacogenetics of sodium-glucose co-transporter-2 inhibitors: Validation of a sex-agnostic pharmacodynamic biomarker.Diabetes Obes Metab2023
37761945Glucocorticoid Receptor Gene (<i>NR3C1</i>) Polymorphisms and Metabolic Syndrome: Insights from the Mennonite Population.Genes (Basel)2023
37913995Missense variants in SORT1 are associated with LDL-C in an Amish population.J Lipid Res2023
37808823Acute pharmacodynamic responses to sitagliptin: Drug-induced increase in early insulin secretion in oral glucose tolerance test.medRxiv2023
37159869Association of parity with body mass index and cardiometabolic risk in high-parous women.Menopause2023
37078962Evidence of Neurovascular Water Exchange and Endothelial Vascular Dysfunction in Schizophrenia: An Exploratory Study.Schizophr Bull2023
37328064In-Depth Mass Spectrometry Analysis Reveals the Plasma Proteomic and N-Glycoproteomic Impact of an Amish-Enriched Cardioprotective Variant in B4GALT1.Mol Cell Proteomics2023
37264484Acute pharmacodynamic responses to exenatide: Drug-induced increases in insulin secretion and glucose effectiveness.Diabetes Obes Metab2023
37202472SuperAger Initiative: unlocking the genetic potential of exceptional longevity.Nat Aging2023
36882501Genome-wide significant risk loci for mood disorders in the Old Order Amish founder population.Mol Psychiatry2023
36945579Pharmacogenetics of SGLT2 Inhibitors: Validation of a sex-agnostic pharmacodynamic biomarker.medRxiv2023
36807635Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes.Nature2023
37126548The genetic determinants of recurrent somatic mutations in 43,693 blood genomes.Sci Adv2023
36941539Associations of genome-wide and regional autozygosity with 96 complex traits in old order Amish.BMC Genomics2023
37107695Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.Genes (Basel)2023
36993363Acute pharmacodynamic responses to exenatide: Drug-induced increases in insulin secretion and glucose effectiveness.medRxiv2023
36927983Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians.Eur J Hum Genet2023
36606600Depression, stress and regional cerebral blood flow.J Cereb Blood Flow Metab2023
37046083Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.Nature2023
37808823Acute pharmacodynamic responses to sitagliptin: Drug-induced increase in early insulin secretion in oral glucose tolerance test.medRxiv2023
37913995Missense variants in SORT1 are associated with LDL-C in an Amish population.J Lipid Res2023
37608471Pharmacogenetics of sodium-glucose co-transporter-2 inhibitors: Validation of a sex-agnostic pharmacodynamic biomarker.Diabetes Obes Metab2023
37761945Glucocorticoid Receptor Gene (<i>NR3C1</i>) Polymorphisms and Metabolic Syndrome: Insights from the Mennonite Population.Genes (Basel)2023
37159869Association of parity with body mass index and cardiometabolic risk in high-parous women.Menopause2023
37126548The genetic determinants of recurrent somatic mutations in 43,693 blood genomes.Sci Adv2023
36993363Acute pharmacodynamic responses to exenatide: Drug-induced increases in insulin secretion and glucose effectiveness.medRxiv2023
37046083Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.Nature2023
36945579Pharmacogenetics of SGLT2 Inhibitors: Validation of a sex-agnostic pharmacodynamic biomarker.medRxiv2023
37078962Evidence of Neurovascular Water Exchange and Endothelial Vascular Dysfunction in Schizophrenia: An Exploratory Study.Schizophr Bull2023
37107695Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.Genes (Basel)2023
37202472SuperAger Initiative: unlocking the genetic potential of exceptional longevity.Nat Aging2023
37264484Acute pharmacodynamic responses to exenatide: Drug-induced increases in insulin secretion and glucose effectiveness.Diabetes Obes Metab2023
37328064In-Depth Mass Spectrometry Analysis Reveals the Plasma Proteomic and N-Glycoproteomic Impact of an Amish-Enriched Cardioprotective Variant in B4GALT1.Mol Cell Proteomics2023
36882501Genome-wide significant risk loci for mood disorders in the Old Order Amish founder population.Mol Psychiatry2023
36807635Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes.Nature2023
36606600Depression, stress and regional cerebral blood flow.J Cereb Blood Flow Metab2023
36941539Associations of genome-wide and regional autozygosity with 96 complex traits in old order Amish.BMC Genomics2023
34655148A missense variant Arg611Cys in LIPE which encodes hormone sensitive lipase decreases lipolysis and increases risk of type 2 diabetes in American Indians.Diabetes Metab Res Rev2022
35393526An Amish founder population reveals rare-population genetic determinants of the human lipidome.Commun Biol2022
35963506Cerebral blood flow and cardiovascular risk effects on resting brain regional homogeneity.Neuroimage2022
35763601Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program.Diabetes Care2022
35442562Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.Am J Med Genet A2022
35385311Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential.Sci Adv2022
35821803Clonal Hematopoiesis Analyses in Clinical, Epidemiologic, and Genetic Aging Studies to Unravel Underlying Mechanisms of Age-Related Dysfunction in Humans.Front Aging2022
35688891Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians.Eur J Hum Genet2022
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
35543701Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial.Circ Genom Precis Med2022
36450978Common and rare variant associations with clonal haematopoiesis phenotypes.Nature2022
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Collaborators

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Jeffrey R O'Connell
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Toni I Pollin
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Eric Boerwinkle
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Albert V Smith
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Fernando Rivadeneira
University Medical Center Rotterdam
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Luigi Ferrucci
National Institute on Aging, National Institutes of Health
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Inga Prokopenko
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Christian Gieger
German Research Center for Cardiovascular Disease (DZHK)
Co-authored papers 38
Tim D Spector
King's College London
Co-authored papers 38
Philippe Froguel
Co-authored papers 37
Serena Sanna
Co-authored papers 36
Peter Vollenweider
Lausanne University Hospital and University of Lausanne
Co-authored papers 35
Peter P Pramstaller
Co-authored papers 35
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