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Integrating predicted transcriptome from multiple tissues improves association detection

PLoS genetics, 2019-01, Vol.15 (1), p.e1007889-e1007889

2019

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Polygenic score development in the era of large-scale biobanks

Cell genomics, 2022-01, Vol.2 (1), p.100088, Article 100088

Plagnol, Vincent

2022

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Evaluation of polygenic prediction methodology within a reference-standardized framework

PLoS genetics, 2021-05, Vol.17 (5), p.e1009021-e1009021

2021

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Bayesian test for colocalisation between pairs of genetic association studies using summary statistics

PLoS genetics, 2014-05, Vol.10 (5), p.e1004383-e1004383

2014

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CHiCAGO: robust detection of DNA looping interactions in Capture Hi-C data

Genome Biology, 2016-06, Vol.17 (1), p.127-127, Article 127

2016

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Human Coronavirus OC43 Associated with Fatal Encephalitis

The New England journal of medicine, 2016-08, Vol.375 (5), p.497-498

2016

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Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

American journal of human genetics, 2013-03, Vol.92 (3), p.448-453

2013

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Markov Chain Monte Carlo without Likelihoods

Proceedings of the National Academy of Sciences - PNAS, 2003-12, Vol.100 (26), p.15324-15328

2003

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Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

Science (American Association for the Advancement of Science), 2018-08, Vol.361 (6404), p.810-813

2018

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A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

Bioinformatics, 2012-11, Vol.28 (21), p.2747-2754

2012

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Atlas of the clinical genetics of human dilated cardiomyopathy

European heart journal, 2015-05, Vol.36 (18), p.1123-1135

2015

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Targeted sequencing of plasma cell-free DNA to predict response to PD1 inhibitors in advanced non-small cell lung cancer

Lung cancer (Amsterdam, Netherlands), 2019-11, Vol.137, p.1-6

2019

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mRNA and circRNA mislocalization to synapses are key features of Alzheimer’s disease

PLoS genetics, 2024-07, Vol.20 (7), p.e1011359

2024

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Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

The Journal of clinical investigation, 2015-05, Vol.125 (5), p.2151-2160

2015

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Review and further developments in statistical corrections for Winner's Curse in genetic association studies

PLoS genetics, 2023-09, Vol.19 (9), p.e1010546-e1010546

2023

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Insight into Genotype-Phenotype Associations through eQTL Mapping in Multiple Cell Types in Health and Immune-Mediated Disease

PLoS genetics, 2016-03, Vol.12 (3), p.e1005908-e1005908

2016

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Downregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia

PLoS genetics, 2017-05, Vol.13 (5), p.e1006819-e1006819

2017

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Deconstructing cerebellar development cell by cell

PLoS genetics, 2020-04, Vol.16 (4), p.e1008630-e1008630

2020

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Classification of non-coding variants with high pathogenic impact

PLoS genetics, 2022-04, Vol.18 (4), p.e1010191-e1010191

2022

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Multi-scale inference of genetic trait architecture using biologically annotated neural networks

PLoS genetics, 2021-08, Vol.17 (8), p.e1009754-e1009754

2021

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BRASS: Permutation methods for binary traits in genetic association studies with structured samples

PLoS genetics, 2023-11, Vol.19 (11), p.e1011020-e1011020

2023

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Large-scale whole exome sequencing studies identify two genes,CTSL and APOE, associated with lung cancer

PLoS genetics, 2023-09, Vol.19 (9), p.e1010902

2023

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ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

PLoS genetics, 2019-03, Vol.15 (3), p.e1007605-e1007605

2019

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Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

PLoS genetics, 2022-09, Vol.18 (9), p.e1009923-e1009923

2022

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Integrating predicted transcriptome from multiple tissues improves association detection

Polygenic score development in the era of large-scale biobanks

Evaluation of polygenic prediction methodology within a reference-standardized framework

Bayesian test for colocalisation between pairs of genetic association studies using summary statistics

CHiCAGO: robust detection of DNA looping interactions in Capture Hi-C data

Human Coronavirus OC43 Associated with Fatal Encephalitis

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study

Markov Chain Monte Carlo without Likelihoods

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

Atlas of the clinical genetics of human dilated cardiomyopathy

Targeted sequencing of plasma cell-free DNA to predict response to PD1 inhibitors in advanced non-small cell lung cancer

mRNA and circRNA mislocalization to synapses are key features of Alzheimer’s disease

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

Review and further developments in statistical corrections for Winner's Curse in genetic association studies

Insight into Genotype-Phenotype Associations through eQTL Mapping in Multiple Cell Types in Health and Immune-Mediated Disease

Downregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia

Deconstructing cerebellar development cell by cell

Classification of non-coding variants with high pathogenic impact

Multi-scale inference of genetic trait architecture using biologically annotated neural networks

BRASS: Permutation methods for binary traits in genetic association studies with structured samples

Large-scale whole exome sequencing studies identify two genes,CTSL and APOE, associated with lung cancer

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score

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