S
Stéphanie Moortgat
Publications - 9
Citations - 203
Stéphanie Moortgat is an academic researcher. The author has contributed to research in topics: X-linked intellectual disability & Medicine. The author has an hindex of 5, co-authored 7 publications receiving 134 citations.
Papers
More filters
Journal ArticleDOI
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
Stéphanie Moortgat,Siren Berland,Ingvild Aukrust,Isabelle Maystadt,Laura A. Baker,Valérie Benoit,Alfonso Caro-Llopis,Nicola S. Cooper,François-Guillaume Debray,Laurence Faivre,Thatjana Gardeitchik,Bjørn Ivar Haukanes,Gunnar Houge,Emma Kivuva,Francisco Martínez,Sarju G. Mehta,Marie-Cécile Nassogne,Nina Powell-Hamilton,Rolph Pfundt,Mónica Roselló,Trine Prescott,Pradeep Vasudevan,Barbara van Loon,Christine Verellen-Dumoulin,Alain Verloes,Charlotte von der Lippe,Emma Wakeling,Andrew O.M. Wilkie,Louise C. Wilson,Amy Lawson Yuen,Ddd Study,Karen J. Low,Ruth Newbury-Ecob +32 more
TL;DR: It is described for the first time that females can be severely affected, despite preferential inactivation of the affected X chromosome, and HUWE1 missense variants may cause syndromic ID in both males and females.
Journal ArticleDOI
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
Stéphanie Moortgat,Julie Désir,Valérie Benoit,Sébastien Boulanger,Hélène Pendeville,Marie-Cécile Nassogne,Damien Lederer,Isabelle Maystadt +7 more
TL;DR: Morpholino‐based knockdown of the zebrafish EIF2S3 ortholog (eif2s3) recapitulates the human microcephaly and short stature phenotype, supporting the pathogenicity of the identified variants.
Journal ArticleDOI
FOXP1 -related intellectual disability syndrome: a recognisable entity
Ilse Meerschaut,Daniel Rochefort,Nicole Revencu,Justine Pètre,Christina Corsello,Guy A. Rouleau,Fadi F. Hamdan,Jacques L. Michaud,Jenny Morton,Jessica A. Radley,N Ragge,Sixto García-Miñaur,Pablo Lapunzina,Maria Palomares Bralo,María Ángeles Mori,Stéphanie Moortgat,Valérie Benoit,Sandrine Mary,Nele Bockaert,Ann Oostra,Olivier Vanakker,Milen Velinov,Thomy de Ravel,Djalila Mekahli,Jonathan Sebat,Keith K. Vaux,Nataliya DiDonato,Andrea Hanson-Kahn,Louanne Hudgins,Bruno Dallapiccola,Antonio Novelli,Luigi Tarani,Joris Andrieux,Michael Parker,Katherine Neas,Berten Ceulemans,An Sofie Schoonjans,Darina Prchalova,Marketa Havlovicova,Miroslava Hancarova,Magdalena Budisteanu,Annelies Dheedene,Björn Menten,Patrick A. Dion,Damien Lederer,Bert Callewaert +45 more
TL;DR: In this article, the authors correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOXP1 defects, and evaluate FoxP1 activity by an in vitro luciferase model and assessed protein stability in vitro by western blotting.
Journal ArticleDOI
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature
Virginie Carmignac,Sophie Nambot,Daphné Lehalle,Patrick Callier,Stéphanie Moortgat,Valérie Benoit,Jamal Ghoumid,Bruno Delobel,Thomas Smol,Caroline Thuillier,Cécile Zordan,Sophie Naudion,Thierry Bienvenu,Thierry Bienvenu,Renaud Touraine,Francis Ramond,Christiane Zweier,André Reis,Cornelia Kraus,Mathilde Nizon,Benjamin Cogné,Alain Verloes,Frédéric Tran Mau-Them,Arthur Sorlin,Thibaud Jouan,Yannis Duffourd,Emilie Tisserant,Christophe Philippe,Antonio Vitobello,Julien Thevenon,Laurence Faivre,Christel Thauvin-Robinet +31 more
TL;DR: Evidence is provided of the role of KDM5C in ID in females highlighting the increasing implication of XLID genes in females, even in sporadic affected individuals.