Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients-Reference-Cited by-同舟云学术

Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients

Published:2021-03-14 Issue:4 Volume:42 Page:373-377
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Laurent Sacha¹^ORCID,Gehrig Corinne¹,Nouspikel Thierry¹,Amr Sami S.²^ORCID,Oza Andrea²^ORCID,Murphy Elissa²,Vannier Anne¹,Béna Frédérique Sloan¹³,Carminho‐Rodrigues Maria Teresa¹,Blouin Jean‐Louis¹³,Cao Van Hélène⁴,Abramowicz Marc¹³,Paoloni‐Giacobino Ariane¹³,Guipponi Michel¹³

Affiliation:

1. Department of Diagnostic, Genetic Medicine Unit University Hospitals of Geneva Geneva Switzerland

2. Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine Cambridge Massachusetts USA

3. Department of Genetic Medicine and Development University of Geneva Medical School Geneva Switzerland

4. Department of Otorhinolaryngology, Head and Neck Surgery, Pediatric Otolaryngology Unit University Hospitals of Geneva Geneva Switzerland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24167

Reference28 articles.

1. A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

2. Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

3. Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism

4. Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease

5. Gene conversion: mechanisms, evolution and human disease

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