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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, 2024-09, 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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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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NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis

Gut, 2022-04, Vol.71 (4), p.841-842

2022

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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 genetic history of France

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

2020

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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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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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Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis

Haematologica (Roma), 2022-11, Vol.107 (11), p.2725-2731

2022

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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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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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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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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.21-23, Article 21

2024

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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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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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Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis-protecting rs10273639

Gut, 2015-11, Vol.64 (11), p.1837-1838

2015

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FSuite: exploiting inbreeding in dense SNP chip and exome data

Bioinformatics (Oxford, England), 2014-07, Vol.30 (13), p.1940-1941

2014

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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

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

NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis

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

The genetic history of France

High level of inbreeding in final phase of 1000 Genomes Project

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

Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis

How important are rare variants in common disease?

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

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

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

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

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

Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis-protecting rs10273639

FSuite: exploiting inbreeding in dense SNP chip and exome data

RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome

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