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Author Details

Jason Flannick
2005
75
39
PMIDPaper TitleJournal TitlePublished Year
36255737Ancestry-specific high-risk gene variant profiling unmasks diabetes-associated genes.Hum Mol Genet2024
37492105Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins.Cell Genom2023
37814896Cardiovascular Disease Knowledge Portal: A Community Resource for Cardiovascular Disease Research.Circ Genom Precis Med2023
37561710Leveraging type 1 diabetes human genetic and genomic data in the T1D knowledge portal.PLoS Biol2023
36778413Leveraging type 1 diabetes human genetic and genomic data in the T1D Knowledge Portal.bioRxiv2023
37148359The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes.Diabetologia2023
37075753FALCON systematically interrogates free fatty acid biology and identifies a novel mediator of lipotoxicity.Cell Metab2023
36865221FALCON systematically interrogates free fatty acid biology and identifies a novel mediator of lipotoxicity.bioRxiv2023
37292813Insights from rare variants into the genetic architecture and biology of youth-onset type 2 diabetes.Res Sq2023
35134345The Lipid Droplet Knowledge Portal: A resource for systematic analyses of lipid droplet biology.Dev Cell2022
36107630Haploinsufficiency of CYP8B1 associates with increased insulin sensitivity in humans.J Clin Invest2022
35896531Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity.Nature Communications2022
36280733A combined polygenic score of 21,293 rare and 22 common variants improves diabetes diagnosis based on hemoglobin A1C levels.Nature Genetics2022
35421386Evaluating human genetic support for hypothesized metabolic disease genes.2022
34929253A glomerular transcriptomic landscape of apolipoprotein L1 in Black patients with focal segmental glomerulosclerosis.Kidney Int2022
35148817Data-driven type 2 diabetes patient clusters predict metabolic surgery outcomes.Lancet Diabetes and Endocrinology,The2022
35147782An effector index to predict target genes at GWAS loci.Hum Genet2022
34362814Monogenic Diabetes in Youth With Presumed Type 2 Diabetes: Results From the Progress in Diabetes Genetics in Youth (ProDiGY) Collaboration.Diabetes Care2021
33479058The First Genome-Wide Association Study for Type 2 Diabetes in Youth: The Progress in Diabetes Genetics in Youth (ProDiGY) Consortium.Diabetes2021
34108472Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.Nat Commun2021
34568709Genome-wide Association Study of Lipid Traits in Youth With Type 2 Diabetes.J Endocr Soc2021
34716200Erratum. The First Genome-Wide Association Study for Type 2 Diabetes in Youth: The Progress in Diabetes Genetics in Youth (ProDiGY) Consortium. Diabetes 2021;70:996-1005.Diabetes2021
32777102The Musculoskeletal Knowledge Portal: Making Omics Data Useful to the Broader Scientific Community.J Bone Miner Res2020
31118516Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.Nature2019
31676859Loss of ZnT8 function protects against diabetes by enhanced insulin secretion.Nature Genetics2019
30957210The Contribution of Low-Frequency and Rare Coding Variation to Susceptibility to Type 2 Diabetes.Current Diabetes Reports2019
29358691Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.Nat Commun2018
30240442Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis.PLoS Med2018
29861106Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.Am J Hum Genet2018
29899519Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.Nat Commun2018
29626220Metabolomics insights into early type 2 diabetes pathogenesis and detection in individuals with normal fasting glucose.Diabetologia2018
29526462Translocon Declogger Ste24 Protects against IAPP Oligomer-Induced Proteotoxicity.Cell2018
29335331Cerebrovascular Disease Knowledge Portal: An Open-Access Data Resource to Accelerate Genomic Discoveries in Stroke.Stroke2018
29632382Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.Nat Genet2018
29849136Publisher Correction: Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.Nat Commun2018
29360107Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.Sci Data2018
27899486Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.Diabetes2017
28341696A Low-Frequency Inactivating <i>AKT2</i> Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.Diabetes2017
28838971A Loss-of-Function Splice Acceptor Variant in <i>IGF2</i> Is Protective for Type 2 Diabetes.Diabetes2017
29042551Integrating evolutionary and regulatory information with a multispecies approach implicates genes and pathways in obsessive-compulsive disorder.Nat Commun2017
29257133Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.Sci Data2017
27535533Analysis of protein-coding genetic variation in 60,706 humans.Nature2016
27402621Type 2 diabetes: genetic data sharing to advance complex disease research.Nature Reviews Genetics2016
27080136Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes.Nature Reviews Endocrinology2016
26822414A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans.BMC Endocr Disord2016
26818947Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes.Nat Commun2016
27398621The genetic architecture of type 2 diabetes.Nature2016
26551672Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.Nat Genet2015
25589632Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.Sci Transl Med2015
25625282Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.PLoS Genet2015
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Stanford University School of Medicine
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Massachusetts General Hospital
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