Associated Papers
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
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Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table4.xlsx › Results
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M et al.
Human Mutation, 2021
Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa.
Afshar F et al.
Eye (london, England), 2020
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
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Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
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Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
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