Matthieu Egloff

6PUBLICATIONS
12CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)Central nervous systemGene mapping
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Publications (6)

|Jul 24, 2026
Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

|Feb 29, 2024
3q29 duplications: A cohort of 46 patients and a literature review.

Marie Massier, Martine Doco-Fenzy, Matthieu Egloff

|Oct 05, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

Guillaume Jouret, Matthieu Egloff, Emilie Landais

|Feb 26, 2022
Cerebellar and Striatal Implications in Autism Spectrum Disorders: From Clinical Observations to Animal Models.

Mathieu Thabault, Valentine Turpin, Alexandre Maisterrena

|Jul 08, 2020
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

Tanguy Niclass, Gwenael Le Guyader, Claire Beneteau

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Frequent Collaborators

2 joint publications

Paul Kuentz

2 joint publications

Clémence Jacquin

1 joint publications

Tanguy Niclass

1 joint publications

Brigitte Gilbert-Dussardier