Associated Papers
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.
Sallah SR et al.
European Journal of Human Genetics : Ejhg, 2020
32313206 (PubMed )
Supplement: 41431_2020_623_MOESM1_ESM.xlsx › combined_train_test_data
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C et al.
Human Mutation, 2019
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C et al.
Progress in Retinal and Eye Research, 2015
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
Michalakis S et al.
Human Molecular Genetics, 2014
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