Concepedia

Stéphanie Moortgat

SM

Statistics

Publications

13

Citations

616

H-Index

12

Active since

2013

Affiliations

Institute of Pathology and Genetics(Current)

Assistance Publique – Hôpitaux de Paris

Cliniques Universitaires Saint-Luc

Radboud University Medical Center

Radboud University Nijmegen

Stéphanie Moortgat is an author at Institute of Pathology and Genetics specializing in genetics, molecular genetics, and life sciences.

ORCID

Publications per year

2013–2022

13

Publications

13

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 · 100 citations · Full text

, , +17

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 · 89 citations · Full text

, , +17

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 · 85 citations · Full text

, , +11

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

Ilse Meerschaut, Daniel Rochefort, Nicole Revençu et al. · Journal of Medical Genetics · 2017 · 80 citations · Full text

, , +17

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 · 59 citations

, , +17

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