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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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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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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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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

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 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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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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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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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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Role of the Common PRSS1-PRSS2 Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses

Genes, 2020-11, Vol.11 (11), p.1349

2020

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Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review

Genes, 2021-03, Vol.12 (4), p.471

2021

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Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia

Arteriosclerosis, thrombosis, and vascular biology, 2021-01, Vol.41 (1), p.e63

2021

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Missing heritability of complex diseases: case solved?

Rare variant association testing in the non-coding genome

Expanding ACMG variant classification guidelines into a general framework

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

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 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

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

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

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

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

Role of the Common PRSS1-PRSS2 Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses

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

Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia

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