Associated Papers
Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.
Graziani L et al.
Genes, 2025
CRISPR-based editing strategies to rectify EYA1 complex genomic rearrangement linked to haploinsufficiency.
Yi H et al.
Molecular Therapy. Nucleic Acids, 2024
38766525 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Misdiagnosed Branchio-Oto-Renal syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood: a report of three cases.
Lin Z et al.
Bmc Nephrology, 2023
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.
Spedicati B et al.
Biomedicines, 2023
Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.
Liao EN et al.
Jama Network Open, 2022
36166228 (PubMed )
Supplement: jamanetwopen-e2233441-s001.pdf
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
Florentine MM et al.
Human Genetics, 2022
34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.
Chen A et al.
Clinical Genetics, 2021
Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.
Sun W et al.
Plos One, 2014
Mutation analysis of 12 genes in Chinese families with congenital cataracts.
Sun W et al.
Molecular Vision, 2011
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
Hampson K et al.
Journal of Medical Genetics, 2000
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