Catherine Dehainault

Evaluation of in silico splice tools for decision-making in molecular diagnosis

Claude Houdayer, Catherine Dehainault, Christophe Mattler et al. · Human Mutation · 2008 · 159 citations

Molecular Diagnosis, Engineering, Genetics +25

Comprehensive screening for constitutional <i>RB1</i> mutations by DHPLC and QMPSF

Claude Houdayer, Marion Gauthier‐Villars, Anthony Laugé et al. · Human Mutation · 2004 · 150 citations

Genetic Testing, Constitutional Mutations, Rb1 Gene +12

A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

Jing Liu, Daniela Ottaviani, Meriem Sefta et al. · Nature Communications · 2021 · 101 citations · Full text

Genotype–phenotype correlations in hereditary familial retinoblastoma

Mélissa Taylor, Catherine Dehainault, Laurence Desjardins et al. · Human Mutation · 2006 · 87 citations

Rb1 Mutation, Mendelian Disorder, Prb Pathway Regulation +8

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

Catherine Dehainault, Dorothée Michaux, Sabine Pagès-Berhouet et al. · European Journal of Human Genetics · 2007 · 66 citations · Full text

Developmental Biology, Rb1 Gene, Genetics +7