Article
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2018
Sheppard Sarah, Biswas Sawona, Li Mindy H, Jayaraman Vijayakumar, Slack Ian, Romasko Edward J, Sasson Ariella, Brunton Joshua, Rajagopalan Ramakrishnan, Sarmady Mahdi, Abrudan Jenica L, Jairam Sowmya, DeChene Elizabeth T, Ying Xiahoan, Choi Jiwon, Wilkens Alisha, Raible Sarah E, Scarano Maria I, Santani Avni, Pennington Jeffrey W, Luo Minjie, Conlin Laura K, Devkota Batsal, Dulik Matthew C, Spinner Nancy B, Krantz Ian D
Abstract excerpt
PURPOSE: Hearing loss (HL) is the most common sensory disorder in children. Prompt molecular diagnosis may guide screening and management, especially in syndromic cases when HL is the single presenting feature. Exome sequencing (ES) is an appealing diagnostic tool for HL as the genetic causes are highly heterogeneous. METHODS: ES was performed on a prospective cohort of 43 probands with HL. Sequence data were...
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