Catherine Blanchet

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Marie Vincent, David Geneviève, Agnès Ostertag et al. · Genetics in Medicine · 2015 · 162 citations

Medicine, Clinical Sciences, Molecular Genetics +3

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

Christel Vaché, Thomas Besnard, Pauline Le Berre et al. · Human Mutation · 2011 · 118 citations

Life Sciences, Genetics, Molecular Genetics +17

<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Laura Cif, Diane Demailly, Jean‐Pierre Lin et al. · Brain · 2020 · 115 citations · Full text

Medicine, Molecular Genetics, Neurology +13

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

David Baux, Lise Larrieu, Catherine Blanchet et al. · Human Mutation · 2007 · 98 citations

Life Sciences, Genetics, Molecular Genetics +15

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

Elodie Sanchez, Béryl Laplace-Builhe, Frédéric Tran Mau‐Them et al. · Genetics in Medicine · 2019 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17