Yoann Vial

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Yline Capri, Elisabetta Flex, Oliver H.F. Krumbach et al. · The American Journal of Human Genetics · 2019 · 80 citations · Full text

Rare Cause, Genetics, Pathology +4

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 associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

Elizabeth Bhoj, Damien Haye, Annick Toutain et al. · European Journal of Medical Genetics · 2018 · 35 citations · Full text

Molecular Diagnostic Techniques, Opitz Gbbb, Baraitser-winter Syndromes +13

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

Valérie Chune, Francesca Pantaleoni, Alessandro De Luca et al. · European Journal of Human Genetics · 2020 · 31 citations · Full text

Allergy, Autoimmune Disease, Particular Predisposition +5

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

D. Bessis, J. Miquel, E. Bourrat et al. · British Journal of Dermatology · 2018 · 27 citations