Associated Papers
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome.
Kim D et al.
Journal of Human Genetics, 2025
Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit.
Zhu Y et al.
Jama Network Open, 2022
35816303 (PubMed )
Supplement: jamanetwopen-e2220986-s001.pdf
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B et al.
American Journal of Human Genetics, 2019
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