Associated Papers
Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.
Tlili A et al.
Human Genomics, 2024
Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.
Antunes LN et al.
Frontiers in Genetics, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S6
Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.
Vallian Broojeni J et al.
Plos One, 2023
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S et al.
Human Genetics, 2022
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
36147510 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_Table_4_
A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.
Fahimi H et al.
Bmc Medical Genomics, 2021
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.
Morgan A et al.
Genes, 2020
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM et al.
Ophthalmic Genetics, 2020
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
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
Vona B et al.
Ear and Hearing, 0
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