Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.

doi:10.1016/j.jpeds.2023.113620

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Article

Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.

The Journal of pediatrics - 1 Nov 2023

Yamamoto Nobuko, Balciuniene Jorune, Hartman Tiffiney, Diaz-Miranda Maria Alejandra, Bedoukian Emma, Devkota Batsal, Lawrence Audrey, Golenberg Netta, Patel Maha, Tare Archana, Chen Robert, Schindler Emma, Choi Jiwon, Kaur Maninder, Charles Sarah, Chen Jiani, Fanning Elizabeth A, Dechene Elizabeth, Cao Kajia, Jill Murrell R, Rajagopalan Ramakrishnan, Bayram Yavuz, Dulik Matthew C, Germiller John, Conlin Laura K, Krantz Ian D, Luo Minjie

Abstract excerpt

OBJECTIVE: To evaluate factors influencing the diagnostic yield of comprehensive gene panel testing (CGPT) for hearing loss (HL) in children and to understand the characteristics of undiagnosed probands. STUDY DESIGN: This was a retrospective cohort study of 474 probands with childhood-onset HL who underwent CGPT between 2016 and 2020 at a single center. Main outcomes and measures included the association between...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37473993
DOI: 10.1016/j.jpeds.2023.113620

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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