Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
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 › unsolved_patients
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM17_ESM.xlsx › Sheet1
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table4.xlsx › Results
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 2021
The genetics of rod-cone dystrophy in Arab countries: a systematic review.
Jaffal L et al.
European Journal of Human Genetics : Ejhg, 2021
"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".
Cundy O et al.
Eye (london, England), 2021
Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.
Pierrache LHM et al.
Investigative Ophthalmology & Visual Science, 2019
EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.
Messchaert M et al.
Human Mutation, 2018
Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.
Richter-Pechańska P et al.
Blood Cancer Journal, 2017
28157215 (PubMed )
Supplement: bcj20173x11.xlsx › SNVsInDelsCalled_in214Pts
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
Barragán I et al.
Human Mutation, 2010
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