Associated Papers
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S et al.
Human Genetics, 2022
A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.
Fahimi H et al.
Bmc Medical Genomics, 2021
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM et al.
Ophthalmic Genetics, 2020
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
PDZD7 and hearing loss: More than just a modifier.
Booth KT et al.
American Journal of Medical Genetics. Part A, 2015
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
Ebermann I et al.
The Journal of Clinical Investigation, 2010
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
Vona B et al.
Ear and Hearing, 0
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