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Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies

Nature genetics, 2023-01, Vol.55 (1), p.154-164

2023

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Rare protein‐coding variants implicate genes involved in risk of suicide death

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2021-12, Vol.186 (8), p.508-520

2021

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Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

Genome Biology, 2021-06, Vol.22 (1), p.194-25, Article 194

2021

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Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Nature genetics, 2021-05, Vol.53 (5), p.762-762

2021

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Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium

Genome medicine, 2021-04, Vol.13 (1), p.66-17, Article 66

2021

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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Nature genetics, 2020-12, Vol.52 (12), p.1314-1332

2020

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Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

Nature genetics, 2020-09, Vol.52 (9), p.969-983

2020

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A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

Human molecular genetics, 2019-08, Vol.28 (15), p.2615-2633

2019

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Trans-ethnic association study of blood pressure determinants in over 750,000 individuals

Nature genetics, 2019-01, Vol.51 (1), p.51-62

2019

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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

Nature genetics, 2018-10, Vol.50 (10), p.1412-1425

2018

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A comparative analysis of whole genome sequencing of esophageal adenocarcinoma pre- and post-chemotherapy

Genome research, 2017-06, Vol.27 (6), p.902

2017

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Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

European journal of human genetics : EJHG, 2017-06, Vol.25 (7), p.894-899

2017

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Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk

Nature genetics, 2017-03, Vol.49 (3), p.403-415

2017

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

American journal of human genetics, 2017-01, Vol.100 (1), p.179-179

2017

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Mutational signatures in esophageal adenocarcinoma define etiologically distinct subgroups with therapeutic relevance

Nature genetics, 2016-10, Vol.48 (10), p.1131-1141

2016

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Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits

Nature genetics, 2016-08, Vol.48 (8), p.867-876

2016

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Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

American journal of medical genetics. Part A, 2016-07, Vol.170A (7), p.1791-1798

2016

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Clinical phenotype of the recurrent 1q21.1 copy-number variant

Genetics in medicine, 2016-04, Vol.18 (4), p.341-349

2016

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Whole-genome sequencing provides new insights into the clonal architecture of Barrett's esophagus and esophageal adenocarcinoma

Nature genetics, 2015-09, Vol.47 (9), p.1038-1046

2015

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A meta-analysis of gene expression signatures of blood pressure and hypertension

PLoS genetics, 2015-03, Vol.11 (3), p.e1005035

2015

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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

American journal of human genetics, 2014-10, Vol.95 (4), p.360-370

2014

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Abnormal visual gain control in a Parkinson's disease model

Human molecular genetics, 2014-09, Vol.23 (17), p.4465-4478

2014

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Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty

Human molecular genetics, 2014-08, Vol.23 (16), p.4452-4464

2014

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Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies

Rare protein‐coding variants implicate genes involved in risk of suicide death

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

Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

Publisher Correction: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

A comparative analysis of whole genome sequencing of esophageal adenocarcinoma pre- and post-chemotherapy

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Mutational signatures in esophageal adenocarcinoma define etiologically distinct subgroups with therapeutic relevance

Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

Clinical phenotype of the recurrent 1q21.1 copy-number variant

Whole-genome sequencing provides new insights into the clonal architecture of Barrett's esophagus and esophageal adenocarcinoma

A meta-analysis of gene expression signatures of blood pressure and hypertension

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Abnormal visual gain control in a Parkinson's disease model

Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty

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