Associated Papers
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S et al.
Human Genetics, 2022
Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans.
Lee SY et al.
International Journal of Molecular Sciences, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.
Guan J et al.
American Journal of Medical Genetics. Part A, 2018
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
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