Associated Papers
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
39643591 (PubMed )
Supplement: AOS-103-327-s002.xlsx › cohort_data
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
CTSK variant implicated in suspected pyknodysostosis in a domestic cat.
Lyraki M et al.
Jfms Open Reports, 0
36532681 (PubMed )
Supplement: sj-xlsx-3-jor-10.1177_20551169221137536.xlsx › Case_Private
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