Isabelle Maystadt

8PUBLICATIONS
63CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Genetic immunologyMedical infection agents (incl. prions)
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Publications (8)

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

|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

Eline Van Vooren, Filip Van den Broeck, Quinten Mahieu

|Mar 02, 2023
SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.

Katharine Edgerley, Lisa Bryson, Lucy Hanington

|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

Stephanie Moortgat

2 joint publications

Sandrine Passemard

2 joint publications

Thomas Smol

1 joint publications

Isabelle Manfroid