Associated Papers
Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy.
Wang L et al.
Bmc Ophthalmology, 2026
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
A dominant vimentin variant causes a rare syndrome with premature aging.
Cogné B et al.
European Journal of Human Genetics : Ejhg, 2020
32066935 (PubMed )
Supplement: 41431_2020_583_MOESM3_ESM.xlsx › Feuil1
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Comprehensive genomic variation profiling of cervical intraepithelial neoplasia and cervical cancer identifies potential targets for cervical cancer early warning.
Huang J et al.
Journal of Medical Genetics, 2019
30567904 (PubMed )
Supplement: jmedgenet-2018-105745supp001.pdf
Molecular genetic analysis of 30 families with Joubert syndrome.
Suzuki T et al.
Clinical Genetics, 2016
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H et al.
Investigative Ophthalmology & Visual Science, 2015
Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.
Yzer S et al.
Molecular Vision, 2012
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F et al.
Human Mutation, 2010
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Tallila J et al.
Human Mutation, 2009
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Frank V et al.
Human Mutation, 2008
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Tory K et al.
Journal of the American Society of Nephrology : Jasn, 2007
Genotypes and phenotypes of Joubert syndrome and related disorders.
Valente EM et al.
European Journal of Medical Genetics, 0
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