Associated Papers
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
Vintschger E et al.
European Journal of Human Genetics : Ejhg, 2023
36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › all_variants_pooled
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.
Fahimi H et al.
Bmc Medical Genomics, 2021
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
Vona B et al.
Ear and Hearing, 0
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