Associated Papers
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Poli MC et al.
European Journal of Human Genetics : Ejhg, 2024
Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.
Daich Varela M et al.
American Journal of Ophthalmology, 2023
A Stargardt disease-like phenotype in GAS8-related primary ciliary dyskinesia.
Khan AO
Ophthalmic Genetics, 2022
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
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM et al.
Human Genetics, 2016
26969326 (PubMed )
Supplement: 439_2016_1648_MOESM1_ESM.pdf
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P et al.
Journal of Medical Genetics, 2012
22135276 (PubMed )
Supplement: jmedgenet-2011-100468-s5.pdf
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