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Missing heritability of complex diseases: case solved?

Human genetics, 2020, Vol.139 (1), p.103-113

Génin, Emmanuelle

2020

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Rare variant association testing in the non-coding genome

Human genetics, 2020-11, Vol.139 (11), p.1345-1362

2020

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Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases

European journal of human genetics : EJHG, 2024-07, Vol.32 (9), p.1037-1044

2024

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Expanding ACMG variant classification guidelines into a general framework

Human genomics, 2022-08, Vol.16 (1), p.1-31, Article 31

2022

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Extension of SKAT to multi-category phenotypes through a geometrical interpretation

European journal of human genetics : EJHG, 2021-05, Vol.29 (5), p.736-744

2021

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Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1759-1772

2018

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Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes

Genetic epidemiology, 2023-09, Vol.47 (6), p.450-460

2023

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Heritability: What's the point? What is it not for? A human genetics perspective

Genetica, 2022-08, Vol.150 (3-4), p.199-208

2022

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Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe

Orphanet journal of rare diseases, 2011-07, Vol.6 (1), p.52-52

2011

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The Interplay between the Unfolded Protein Response, Inflammation and Infection in Cystic Fibrosis

Cells (Basel, Switzerland), 2021-11, Vol.10 (11), p.2980

2021

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The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis

Human mutation, 2021-04, Vol.42 (4), p.385-391

2021

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High level of inbreeding in final phase of 1000 Genomes Project

Scientific reports, 2015-12, Vol.5 (1), p.17453-17453, Article 17453

2015

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The genetic history of France

European journal of human genetics : EJHG, 2020-07, Vol.28 (7), p.853-865

2020

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End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy

Annals of neurology, 2021-12, Vol.90 (6), p.962-975

2021

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CFTR Cooperative Cis -Regulatory Elements in Intestinal Cells

International journal of molecular sciences, 2021-03, Vol.22 (5), p.2599

2021

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Multiple imputation for competing risks regression with interval-censored data

Journal of statistical computation and simulation, 2016-07, Vol.86 (11), p.2217-2228

2016

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How local reference panels improve imputation in French populations

Scientific reports, 2024-01, Vol.14 (1), p.370-370, Article 370

2024

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How important are rare variants in common disease?

Briefings in functional genomics, 2014-09, Vol.13 (5), p.353-361

2014

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The False Dawn of Polygenic Risk Scores for Human Disease Prediction

Journal of personalized medicine, 2022-08, Vol.12 (8), p.1266

2022

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Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

Journal of hepatology, 2015-03, Vol.62 (3), p.664-672

2015

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Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large

Genes, 2021-10, Vol.12 (11), p.1683

2021

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WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

International journal of molecular sciences, 2023-05, Vol.24 (10), p.8729

2023

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Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

Human genomics, 2024-02, Vol.18 (1), p.21-21, Article 21

2024

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Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish

Nature communications, 2023-03, Vol.14 (1), p.1543-1543, Article 1543

2023

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Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis

European journal of human genetics : EJHG, 2018-12, Vol.26 (12), p.1832-1839

2018

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Missing heritability of complex diseases: case solved?

Rare variant association testing in the non-coding genome

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases

Expanding ACMG variant classification guidelines into a general framework

Extension of SKAT to multi-category phenotypes through a geometrical interpretation

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes

Heritability: What's the point? What is it not for? A human genetics perspective

Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe

The Interplay between the Unfolded Protein Response, Inflammation and Infection in Cystic Fibrosis

The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis

High level of inbreeding in final phase of 1000 Genomes Project

The genetic history of France

End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy

CFTR Cooperative Cis -Regulatory Elements in Intestinal Cells

Multiple imputation for competing risks regression with interval-censored data

How local reference panels improve imputation in French populations

How important are rare variants in common disease?

The False Dawn of Polygenic Risk Scores for Human Disease Prediction

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis

Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish

Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis

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