Associated Papers
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40766138 (PubMed )
Supplement: media-1.pdf
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
32098976 (PubMed )
Supplement: 41598_2020_60137_MOESM1_ESM.pdf
Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.
Jauregui R et al.
Scientific Reports, 2019
31341231 (PubMed )
Supplement: 41598_2019_47251_MOESM1_ESM.pdf
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
Towns KV et al.
Human Mutation, 2010
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Sullivan LS et al.
Investigative Ophthalmology & Visual Science, 2006
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