Associated Papers
Nanomechanics of wild-type and mutant dimers of the inner-ear tip-link protein protocadherin 15.
Villasante CM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
PCDH15 Dual-AAV Gene Therapy for Deafness and Blindness in Usher Syndrome Type 1F.
Ivanchenko MV et al.
Biorxiv : the Preprint Server for Biology, 2023
Nanomechanics of wild-type and mutant dimers of the tip-link protein protocadherin 15.
Villasante CM et al.
Biorxiv : the Preprint Server for Biology, 2023
Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F.
Ivanchenko MV et al.
Nature Communications, 2023
37100771 (PubMed )
Supplement: 41467_2023_38038_MOESM2_ESM.pdf
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Pater JA et al.
Human Genetics, 2022
35278131 (PubMed )
Supplement: 439_2022_2444_MOESM1_ESM.pdf
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.
Pater JA et al.
Human Genetics, 2017
27838790 (PubMed )
Supplement: 439_2016_1746_MOESM1_ESM.pdf
In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype.
Saleha S et al.
International Journal of Ophthalmology, 2016
Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23.
Zhan Y et al.
International Journal of Pediatric Otorhinolaryngology, 2015
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
Doucette L et al.
European Journal of Human Genetics : Ejhg, 2009
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