Associated Papers
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38585811 (PubMed )
Supplement: media-3.xlsx › Sheet1
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
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
Bertrand RE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33077892 (PubMed )
Supplement: NIHMS1645491-supplement-Supplemental_Tables.xlsx › Table_S4
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