Associated Papers
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
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39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › CLRN1
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
García-García G et al.
Molecular Vision, 2012
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
Isosomppi J et al.
Molecular Vision, 2009
Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome.
Ebermann I et al.
Molecular Vision, 2007
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