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Article

Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.

International journal of pediatric otorhinolaryngology - 1 May 2018

Ramzan Khushnooda, Al-Owain Mohammed, Huma Rozeena, Al-Hazzaa Selwa A F, Al-Ageel Sarah, Imtiaz Faiqa, Al-Sayed Moeenaldeen

Abstract excerpt

Next generation sequencing (NGS), such as targeted panel sequencing, whole-exome sequencing and whole-genome sequencing has led to an exponential increase of elucidated genetic causes in both rare diseases, and common but heterogeneous disorders. NGS is applied in both research and clinical settings, and the clinical exome sequencing (CES), which provides not only the sequence variation data but also clinical...

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PMID: 29605349
DOI: 10.1016/j.ijporl.2018.02.016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.PMID 29605349Read ↗

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