Frédéric Tran-Mau-Them

35PUBLICATIONS
458CO-AUTHORS
Flight dynamicsNeurology and neuromuscular diseasesEpidemiological modellingNeonatologyNeurogenetics
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Publications (35)

|Oct 18, 2026
A Familial Case of Thauvin-Robinet-Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation.

|Jul 06, 2026
KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model.

|Jul 01, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

|Jun 15, 2026
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

|Jan 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Céline Jost, Tiffany Busa, Daniel Wegner

|Jan 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer

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Frequent Collaborators

16 joint publications

Antonio Vitobello

15 joint publications

Anne-Sophie Denommé-Pichon

15 joint publications

Ange-Line Bruel

14 joint publications

Laurence Faivre