Céline Bonnet

Screening <i>BRCA1</i> and <i>BRCA2</i> unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene

Céline Bonnet, Sophie Krieger, Myriam Vézain et al. · Journal of Medical Genetics · 2008 · 126 citations

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

Céline Bonnet, Joris Andrieux, Mylène Béri‐Dexheimer et al. · Journal of Medical Genetics · 2010 · 107 citations · Full text

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

Gaëlle Thierry, Claire Bénéteau, Olivier Pichon et al. · American Journal of Medical Genetics Part A · 2012 · 101 citations · Full text

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions

Mylène Béri‐Dexheimer, Véronique Latger‐Cannard, Christophe Philippe et al. · European Journal of Human Genetics · 2008 · 94 citations · Full text

Allelic Variant, Point Mutations, Genetic Disorder +10

Characterization of mosaic supernumerary ring chromosomes by array‐CGH: Segmental aneusomy for proximal 4q in a child with tall stature and obesity

Céline Bonnet, Christian Zix, Marie‐José Grégoire et al. · American Journal of Medical Genetics Part A · 2006 · 87 citations