The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands-Reference-Cited by-同舟云学术

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Published:2016-12-21 Issue:3 Volume:25 Page:308-314
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Zazo Seco Celia,Wesdorp Mieke,Feenstra Ilse,Pfundt Rolph,Hehir-Kwa Jayne Y,Lelieveld Stefan H,Castelein Steven,Gilissen Christian^ORCID,de Wijs Ilse J,Admiraal Ronald JC,Pennings Ronald JE,Kunst Henricus PM,van de Kamp Jiddeke M,Tamminga Saskia,Houweling Arjan C,Plomp Astrid S,Maas Saskia M,de Koning Gans Pia AM,Kant Sarina G,de Geus Christa M,Frints Suzanna GM,Vanhoutte Els K,van Dooren Marieke F,van den Boogaard Marie- José H,Scheffer Hans,Nelen Marcel,Kremer Hannie,Hoefsloot Lies,Schraders Margit,Yntema Helger G

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2016182.pdf

Reference40 articles.

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2. Morton CC, Nance WE : Newborn hearing screening—a silent revolution. N Engl J Med 2006; 354: 2151–2164.

3. Seco CZ, Oonk AM, Dominguez-Ruiz M et al: Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5. Eur J Hum Genet 2015; 23: 189–194.

4. Schraders M, Ruiz-Palmero L, Kalay E et al: Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. Am J Hum Genet 2012; 91: 883–889.

5. Yariz KO, Duman D, Seco CZ et al: Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. Am J Human Genet 2012; 91: 872–882.

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