DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System-Reference-Cited by-同舟云学术

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

Published:2016-05-06 Issue:8 Volume:37 Page:812-819
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sommen Manou¹,Schrauwen Isabelle¹²,Vandeweyer Geert¹,Boeckx Nele¹,Corneveaux Jason J.²,van den Ende Jenneke¹³,Boudewyns An⁴,De Leenheer Els⁵,Janssens Sandra⁵,Claes Kathleen⁵,Verstreken Margriet⁶,Strenzke Nicola⁷,Predöhl Friederike⁷,Wuyts Wim¹³,Mortier Geert¹³,Bitner-Glindzicz Maria⁸,Moser Tobias⁷⁹,Coucke Paul⁵,Huentelman Matthew J.²,Van Camp Guy¹

Affiliation:

1. Department of Medical Genetics; University of Antwerp; Antwerp Belgium

2. Neurogenomics Division; Translational Genomics Research Institute; Phoenix Arizona

3. Antwerp University Hospital; Antwerp Belgium

4. Department of Otorhinolaryngology, Head & Neck Surgery; Antwerp University Hospital; Antwerp Belgium

5. Center of Medical Genetics; Ghent University; Ghent Belgium

6. University Department Otolaryngology; St. Augustinus Hospital; Antwerp Belgium

7. Inner Ear Lab, Department of Otolaryngology; University Medical Center Göttingen; Göttingen Germany

8. Clinical and Molecular Genetics Unit; UCL Institute of Child Health and Great Ormond Street Hospital NHS Trust; London UK

9. Institute for Auditory Neuroscience and InnerEarLab; University Medical Center Göttingen; Göttingen Germany

Funder

Action on Hearing Loss

Federaal Wetenschapsbeleid

State of Lower Saxony, Germany (“Audiologie-Initiative Niedersachsen”)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference48 articles.

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2. Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort;Bademci;Genet Med,2015

3. Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran;Bonyadi;Int J Pediatr Otorhinolaryngol,2014

4. Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families;Brownstein;Genome Biol,2011

5. A note on deaf mutism;Chung;Ann Hum Genet,1959

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