List of works - Jason Flannick

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

scientific article (publication date: 17 August 2016)

Age-related clonal hematopoiesis associated with adverse outcomes

scientific article

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

scientific article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on January 2013

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

scientific article

Association of a Low-Frequency Variant inHNF1AWith Type 2 Diabetes in a Latino Population

scientific article published on June 11, 2014

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants

scientific article published on 30 December 2013

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

scientific article

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

scientific article published on 9 April 2018

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

scientific article

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

scientific article

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

scientific article published on 28 January 2016

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

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

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

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

scientific article published on 13 June 2018

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

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

scientific article

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

scientific article

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

scientific article published on 01 November 2019

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

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

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

scientific article published on 23 January 2018

List of works by Jason Flannick

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

Age-related clonal hematopoiesis associated with adverse outcomes

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

The genetic architecture of type 2 diabetes

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

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

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

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

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

Association of a Low-Frequency Variant inHNF1AWith Type 2 Diabetes in a Latino Population

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants

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

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

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

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

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

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

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

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

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

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

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

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

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

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

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

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

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

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion