Pascaline Létard

Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update

Pascaline Létard, Séverine Drunat, Yoann Vial et al. · Human Mutation · 2017 · 69 citations · Full text

Developmental Anomaly, Developmental Biology, Surface Area +13

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerrière, Dana Jaber, Emanuela Abiusi et al. · Journal of Medical Genetics · 2021 · 62 citations · Full text

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth‐Bolard et al. · European Journal of Human Genetics · 2015 · 52 citations · Full text

Epidemiology, Clinical Population, Diagnosis +3

Late‐onset Pompe disease in France: molecular features and epidemiology from a nationwide study

Claudio Semplicini, Pascaline Létard, Marie De Antonio et al. · Journal of Inherited Metabolic Disease · 2018 · 41 citations

<i>CDK5RAP2</i> primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

Hala Nasser, Liza Vera, Monique Elmaleh et al. · Journal of Medical Genetics · 2020 · 25 citations · Full text