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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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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 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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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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Identifying modifier genes of monogenic disease: strategies and difficulties

Human genetics, 2008-11, Vol.124 (4), p.357-368

2008

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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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Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

Proceedings of the National Academy of Sciences - PNAS, 2012-03, Vol.109 (13), p.4980-4985

2012

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Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?

European journal of human genetics : EJHG, 2011-05, Vol.19 (5), p.583-587

2011

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The Missing Heritability Paradigm: A Dramatic Resurgence of the GIGO Syndrome in Genetics

Human heredity, 2015-01, Vol.79 (1), p.1-4

2015

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Revisiting the Polygenic Additive Liability Model through the Example of Diabetes Mellitus

Human heredity, 2015-01, Vol.80 (4), p.171-177

2015

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Identification of a functional enhancer variant within the chronic pancreatitis‐associated SPINK1 c.101A>G (p.Asn34Ser)‐containing haplotype

Human mutation, 2017-08, Vol.38 (8), p.1014-1024

2017

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Inbreeding Coefficient Estimation with Dense SNP Data: Comparison of Strategies and Application to HapMap III

Human heredity, 2014-01, Vol.77 (1/4), p.49-62

2014

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Opening the Black Box of Imputation Software to Study the Impact of Reference Panel Composition on Performance

Genes, 2023-02, Vol.14 (2), p.410

2023

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Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome

American journal of human genetics, 2006-07, Vol.79 (1), p.62-66

2006

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A Weighted-Holm Procedure Accounting for Allele Frequencies in Genomewide Association Studies

Genetics (Austin), 2008-09, Vol.180 (1), p.697-702

2008

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Mutations of the cystic fibrosis gene in patients with bronchiectasis associated with rheumatoid arthritis

Annals of the rheumatic diseases, 2011-04, Vol.70 (4), p.653-659

2011

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

Genetica, 2022-01

2022

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Proliferation of hippocampal progenitors relies on p27-dependent regulation of Cdk6 kinase activity

Cellular and molecular life sciences : CMLS, 2018-10, Vol.75 (20), p.3817-3827

2018

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Complex trait mapping in isolated populations: Are specific statistical methods required?

European journal of human genetics : EJHG, 2005-06, Vol.13 (6), p.698-706

2005

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Are genome-wide association studies all that we need to dissect the genetic component of complex human diseases?

European journal of human genetics : EJHG, 2007-03, Vol.15 (3), p.260-263

2007

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Missing heritability of complex diseases: case solved?

Rare variant association testing in the non-coding genome

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 genetic history of France

High level of inbreeding in final phase of 1000 Genomes Project

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

Identifying modifier genes of monogenic disease: strategies and difficulties

FSuite: exploiting inbreeding in dense SNP chip and exome data

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?

The Missing Heritability Paradigm: A Dramatic Resurgence of the GIGO Syndrome in Genetics

Revisiting the Polygenic Additive Liability Model through the Example of Diabetes Mellitus

Identification of a functional enhancer variant within the chronic pancreatitis‐associated SPINK1 c.101A>G (p.Asn34Ser)‐containing haplotype

Inbreeding Coefficient Estimation with Dense SNP Data: Comparison of Strategies and Application to HapMap III

Opening the Black Box of Imputation Software to Study the Impact of Reference Panel Composition on Performance

Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome

A Weighted-Holm Procedure Accounting for Allele Frequencies in Genomewide Association Studies

Mutations of the cystic fibrosis gene in patients with bronchiectasis associated with rheumatoid arthritis

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

Proliferation of hippocampal progenitors relies on p27-dependent regulation of Cdk6 kinase activity

Complex trait mapping in isolated populations: Are specific statistical methods required?

Are genome-wide association studies all that we need to dissect the genetic component of complex human diseases?

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