List of works - Jason Flannick

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

scientific article published on 24 March 2017

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity

scientific article published on 16 October 2014

Age-related clonal hematopoiesis associated with adverse outcomes

scientific article

Analysis of protein-coding genetic variation in 60,706 humans

scientific article (publication date: 17 August 2016)

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

scientific article

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

scientific article

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population

scientific article published on June 2014

Biolink Model: A Universal Schema for Knowledge Graphs in Clinical, Biomedical, and Translational Science ⬇️

scientific article

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts

scientific article

Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes

scientific article published on 15 April 2016

Distribution and medical impact of loss-of-function variants in the Finnish founder population

scientific article

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 23 January 2018

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

article by Jason Flannick et al published 22 May 2019 in Nature

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population

scientific article

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

scientific article

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

scientific article published on 13 June 2018

Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes

scientific article published on 28 January 2016

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

scientific article

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants

scientific article published on 30 December 2013

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

scientific article published on 01 November 2019

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

scientific article

Patterns and rates of exonic de novo mutations in autism spectrum disorders

scientific article

Publisher Correction: Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.

scientific article published on 30 May 2018

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

scientific article published on January 2013

Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes

scientific article

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

article

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

scientific article published on 9 April 2018

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

scientific article

List of works by Jason Flannick

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity

Age-related clonal hematopoiesis associated with adverse outcomes

Analysis of protein-coding genetic variation in 60,706 humans

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population

Biolink Model: A Universal Schema for Knowledge Graphs in Clinical, Biomedical, and Translational Science ⬇️

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts

Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes

Distribution and medical impact of loss-of-function variants in the Finnish founder population

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Publisher Correction: Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

The genetic architecture of type 2 diabetes

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol