Jacqueline Vigneron

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

Sonia Abdelhak, Vasiliki Kalatzis, Roland Heilig et al. · Nature Genetics · 1997 · 679 citations

Medicine, Genetics, Molecular Genetics +14

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

Delineation of 15q13.3 microdeletions

Alice Masurel‐Paulet, Joris Andrieux, Patrick Callier et al. · Clinical Genetics · 2010 · 150 citations

Life Sciences, Genetics, Molecular Genetics +15

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene

C. Vincent, Vasiliki Kalatzis, Sylvie Compain et al. · Human Molecular Genetics · 1994 · 122 citations

Life Sciences, Genetics, Molecular Genetics +7

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

Pierre Bitoun, Didier Lacombe, A Nivelon et al. · Journal of Medical Genetics · 1999 · 118 citations

Medicine, Genetics, Pediatrics +15