Article
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
European journal of human genetics : EJHG - 1 Feb 2017
Zazo Seco Celia, Wesdorp Mieke, Feenstra Ilse, Pfundt Rolph, Hehir-Kwa Jayne Y, Lelieveld Stefan H, Castelein Steven, Gilissen Christian, 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
Abstract excerpt
Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is laborious and expensive. In this study, we evaluate the diagnostic utility of whole-exome sequencing (WES) targeting a panel of HI-related genes. Two hundred index patients, mostly of Dutch origin, with presumed hereditary HI underwent WES followed by...
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