Lista de obras -

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

artículo científico publicado en 2021

A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia

artículo científico publicado en 2013

A structural variation reference for medical and population genetics

artículo científico publicado en 2020

ANGPTL3 Deficiency and Protection Against Coronary Artery Disease

artículo científico publicado en 2017

Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer

article published in 2014

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

artículo científico publicado en 2021

An open resource of structural variation for medical and population genetics

artículo científico publicado en 2019

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation

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

artículo científico publicado en 2012

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

article

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

artículo científico publicado en 2019

DNA Sequence Variation in Encoding the Activin-Receptor Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

artículo científico publicado en 2016

Exome sequencing and the genetic basis of complex traits

artículo científico publicado en 2012

Exome sequencing in suspected monogenic dyslipidemias

artículo científico publicado en 2015

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

artículo científico publicado en 2012

Genetics of rheumatoid arthritis contributes to biology and drug discovery

artículo científico publicado en 2013

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

artículo científico publicado en 2017

Human knockouts in a cohort with a high rate of consanguinity

Inactivating mutations in NPC1L1 and protection from coronary heart disease

artículo científico publicado en 2014

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants

artículo científico publicado en 2013

Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene

artículo científico publicado en 2014

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

artículo científico publicado en 2014

Multi-ethnic genome-wide association study for atrial fibrillation

article

Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling

artículo científico publicado en 2017

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, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis

artículo científico publicado en 2012

The mutational constraint spectrum quantified from variation in 141,456 humans

artículo científico publicado en 2020

The mutational constraint spectrum quantified from variation in 141,456 humans

artículo científico publicado en 2019

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

artículo científico publicado en 2019

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

artículo científico publicado en 2019

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

Lista de obras de

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia

A structural variation reference for medical and population genetics

ANGPTL3 Deficiency and Protection Against Coronary Artery Disease

Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

An open resource of structural variation for medical and population genetics

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

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

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

Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation

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

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

DNA Sequence Variation in Encoding the Activin-Receptor Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

Exome sequencing and the genetic basis of complex traits

Exome sequencing in suspected monogenic dyslipidemias

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

Genetics of rheumatoid arthritis contributes to biology and drug discovery

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Human knockouts in a cohort with a high rate of consanguinity

Inactivating mutations in NPC1L1 and protection from coronary heart disease

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants

Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Multi-ethnic genome-wide association study for atrial fibrillation

Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling

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, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis

The mutational constraint spectrum quantified from variation in 141,456 humans

The mutational constraint spectrum quantified from variation in 141,456 humans

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation