Stephanie Moortgat

6PUBLICATIONS
78CO-AUTHORS
Infant and child healthEpigenetics (incl. genome methylation and epigenomics)Genetic immunologyMedical infection agents (incl. prions)
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Publications (6)

|Jul 28, 2026
When a Little Wrist Raises big Questions: A Case of Idiopathic Pediatric Carpal Tunnel Syndrome.

|Jun 06, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

|Apr 09, 2026
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Amandine Santini, Angelo Tognon, Anne-Claire Richard

|Aug 27, 2021
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.

Pleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans

|Aug 17, 2021
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.

Sarah Duerinckx, Julie Désir, Camille Perazzolo

|May 04, 2021
Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants.

Stephanie Moortgat, Isabelle Manfroid, Hélène Pendeville

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Frequent Collaborators

4 joint publications

Isabelle Maystadt

2 joint publications

Laurence Faivre

2 joint publications

Sandrine Passemard

2 joint publications

Tahsin Stefan Barakat