Associated Papers
A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F.
Ma Q et al.
Molecular Genetics & Genomic Medicine, 2026
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
41359850 (PubMed )
Supplement: pnas.2518445122.sapp.pdf
Unraveling the enigma of mental disorders: a genetics-first approach and the role of mouse models based on rare disease-susceptible genome variants.
Kondo R et al.
Nagoya Journal of Medical Science, 2025
PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models.
Ivanchenko MV et al.
The Journal of Clinical Investigation, 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
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › PCDH15
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
Fuster-García C et al.
Scientific Reports, 2018
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Aparisi MJ et al.
Orphanet Journal of Rare Diseases, 2014
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM et al.
Human Molecular Genetics, 2014
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.
Jaijo T et al.
Molecular Vision, 2012
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