Estelle Colin

12PUBLICATIONS
218CO-AUTHORS
Developmental genetics (incl. sex determination)Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Quaternary environmentsSolid tumours
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Publications (12)

|Oct 06, 2026
Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Sep 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Marlène Malbos, Thierry Gautier, Amelle Shillington

|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

|May 28, 2024
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.

Vincent Milon, Marie-Claire Malinge, Maud Blanluet

|Apr 27, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree

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Frequent Collaborators

3 joint publications

Gwenaël Le Guyader

3 joint publications

Radka Stoeva

3 joint publications

Christel Thauvin-Robinet

3 joint publications

Anne-Sophie Denommé-Pichon