Stéphanie Moortgat

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Stéphanie Moortgat, Siren Berland, Ingvild Aukrust et al. · European Journal of Human Genetics · 2017 · 98 citations · Full text

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik et al. · Orphanet Journal of Rare Diseases · 2013 · 83 citations · Full text

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Mala Isrie, Martin W. Breuss, Guoling Tian et al. · The American Journal of Human Genetics · 2015 · 83 citations · Full text

<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity

Ilse Meerschaut, Daniel Rochefort, Nicole Revençu et al. · Journal of Medical Genetics · 2017 · 72 citations · Full text

Two novel <i>EIF2S3</i> mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy

Stéphanie Moortgat, Julie Désir, Valérie Benoît et al. · American Journal of Medical Genetics Part A · 2016 · 56 citations

Neurogenomics, Genetics, Severe Microcephaly +23