Aurélie Coussement

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Lydie Bürglen, Sandra Chantot‐Bastaraud, Cathérine Garel et al. · Orphanet Journal of Rare Diseases · 2012 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study

Matthieu Egloff, Bérénice Herve, Thibaud Quibel et al. · Ultrasound in Obstetrics and Gynecology · 2017 · 66 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations

Céline Dupont, Francesca Romana Grati, Kwong Wai Choy et al. · Prenatal Diagnosis · 2014 · 65 citations

Life Sciences, Genetics, Molecular Genetics +17

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 · 60 citations

Medicine, Obstetrics, Pathology +16

Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30‐year French, retrospective, multicentre study

Nicolas Gruchy, Eléonore Blondeel, Nathalie Le Meur et al. · Prenatal Diagnosis · 2016 · 52 citations

Life Sciences, Genetics, Obstetrics +17