Chandran Ka

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

Raphaël Leman, Pascaline Gaildrat, Gérald Le Gac et al. · Nucleic Acids Research · 2018 · 111 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Raphaël Leman, Béatrice Parfait, Dominique Vidaud et al. · Human Mutation · 2022 · 92 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +17

Biallelic variants in <i>MAATS1</i> encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

Guillaume Martinez, Julie Beurois, Denis Dacheux et al. · Journal of Medical Genetics · 2020 · 81 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Structure-Function Analysis of the Human Ferroportin Iron Exporter (SLC40A1): Effect of Hemochromatosis Type 4 Disease Mutations and Identification of Critical Residues

Gérald Le Gac, Chandran Ka, Rozenn Joubrel et al. · Human Mutation · 2013 · 62 citations

Life Sciences, Biochemistry, Molecular Biology +17

Establishment of a medium‐throughput approach for the genotyping of <i><scp>RHD</scp></i> variants and report of nine novel rare alleles

Yann Fichou, Cédric Le Maréchal, Déborah Jamet et al. · Transfusion · 2012 · 49 citations

Life Sciences, Genetics, Molecular Genetics +14