Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation-Reference-Cited by-同舟云学术

Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation

Published:2022-08 Issue: Volume:159 Page:111218
ISSN:0165-5876
Container-title:International Journal of Pediatric Otorhinolaryngology
language:en
Short-container-title:International Journal of Pediatric Otorhinolaryngology

Author:

Elander Johanna^ORCID,Ullmark Tove,Ehrencrona Hans^ORCID,Jonson Tord,Piccinelli Paul,Samuelsson Sofie,Löwgren Karolina,Falkenius-Schmidt Karolina,Ehinger Johannes^ORCID,Stenfeldt Karin^ORCID,Värendh Maria

Publisher

Elsevier BV

Subject

Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health

Reference50 articles.

1. The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands;Zazo Seco;Eur. J. Hum. Genet.,2017

2. Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss, Genetics in medicine;Sheppard;Off. J. Am College Med. Genetic.,2018

3. Massively parallel sequencing for genetic diagnosis of hearing loss: the new standard of care, otolaryngology--head and neck surgery;Shearer;Off. J. Am Acad. Otolaryngol. head Neck Surg.,2015

4. Newborn hearing screening--a silent revolution;Morton;N. Engl. J. Med.,2006

5. Diagnostic evaluation of children with sensorineural hearing loss;Prosser;Otolaryngol. Clin.,2015

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