Aline Receveur

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

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

Laïla El Khattabi, Solveig Heide, Jean‐Hubert Caberg et al. · Journal of Medical Genetics · 2018 · 93 citations

Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype

Bénédicte Demeer, Joris Andrieux, Aline Receveur et al. · European Journal of Medical Genetics · 2012 · 66 citations

Biology, Genetic Disorder, Natural Sciences +9

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

Justine Besseau-Ayasse, C. Violle-Poirsier, Anne Bazin et al. · Prenatal Diagnosis · 2014 · 59 citations

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

A-M Molin, Joris Andrieux, David A. Koolen et al. · Journal of Medical Genetics · 2011 · 56 citations · Full text