Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management-Reference-Cited by-同舟云学术

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management

Published:2022-07-23 Issue:9 Volume:43 Page:1333-1342
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Goudal Adeline¹²^ORCID,Karakachoff Matilde²³,Lindenbaum Pierre²,Baron Estelle²,Bonnaud Stéphanie⁴,Kyndt Florence⁵,Arnaud Marine⁵,Minois Damien⁵,Bourcereau Emmanuelle⁵,Thollet Aurélie⁵,Deleuze Jean‐François⁶,Genin Emmanuelle⁷,Wiart François⁸,Pasquié Jean‐Luc⁹,Galand Vincent¹⁰,Sacher Frédéric¹¹,Dina Christian²,Redon Richard⁵,Bezieau Stéphane¹⁵,Schott Jean‐Jacques⁵,Probst Vincent⁵,Barc Julien²

Affiliation:

1. Service de Génétique Médicale CHU NANTES Nantes France

2. l'institut du thorax, Université de Nantes INSERM UMR 1087/CNRS UMR 6291 Nantes France

3. Clinique des données, CHU Nantes, INSERM, CIC 1413 Nantes France

4. Université de Nantes, CHU Nantes, INSERM UMS 016, CNRS UMS 3556, SFR Santé Nantes France

5. l'institut du thorax, Université de Nantes, CHU Nantes, CNRS, INSERM Nantes France

6. Centre National de Recherche en Génomique Humaine, Institut de Génomique, CEA Evry France

7. INSERM, Univ Brest, EFS, CHU Brest, UMR 1078, GGB Brest France

8. Service de cardiologie, CHU de la Réunion St Pierre Réunion France

9. Department of Cardiology CHU Montpellier Montpellier France

10. Univ Rennes, CHU Rennes, INSERM Rennes France

11. IHU Liryc, Centre de recherche Cardio‐Thoracique de Bordeaux, Electrophysiology and Heart Modeling Institute, Bordeaux University Hospital (CHU), Univ. Bordeaux Bordeaux France

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24436

Reference33 articles.

1. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

2. Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

3. Developing a guideline to standardize the citation of bioresources in journal articles (CoBRA)

4. Prevalence and electronic health record‐based phenotype of loss‐of‐function genetic variants in arrhythmogenic right ventricular cardiomyopathy‐associated genes;Carruth Eric D.;Circulation: Genomic and Precision Medicine,2019

5. Rare non-coding Desmoglein-2 variant contributes to Arrhythmogenic right ventricular cardiomyopathy

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