Associated Papers
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Heath Jeffery RC et al.
Investigative Ophthalmology & Visual Science, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 2017-2279B2.xls › SNVIndel
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Peeters MHCA et al.
Human Mutation, 2021
34411390 (PubMed )
Supplement: HUMU-42-1521-s005.xlsx › All_PRPH2_variants
Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.
Kemps PG et al.
The Journal of Pathology. Clinical Research, 2021
32852896 (PubMed )
Supplement: CJP2-7-10-s001.pdf
Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.
Sajan SA et al.
Clinical Case Reports, 2018
29988648 (PubMed )
Supplement: CCR3-6-1208-s002.xlsx › Table_S1
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.
Zaneveld J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Sohocki MM et al.
Human Mutation, 2001
Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies.
Gregory-Evans K et al.
Trends in Genetics : Tig, 1998
The role of the peripherin/RDS gene in retinal dystrophies.
Kohl S et al.
Acta Anatomica, 1998
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