Mathilde Nizon

17PUBLICATIONS
205CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Quaternary environmentsGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)
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Publications (17)

|Mar 26, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas

|Apr 04, 2025
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.

Christel Thauvin-Robinet, Aurore Garde, Maud Favier

|Mar 05, 2025
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

Clara Houdayer, Kathleen Rooney, Liselot van der Laan

|Dec 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder.

Cosima M Schmid, Anne Gregor, Anna Ruiz

|Sep 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina

|Oct 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Thomas Husson, François Lecoquierre, Gaël Nicolas

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Frequent Collaborators

5 joint publications

Marie Vincent

4 joint publications

David Genevieve

4 joint publications

Frédéric Tran-Mau-Them

4 joint publications

Anne-Sophie Denommé-Pichon