Henri Margot

10PUBLICATIONS
171CO-AUTHORS
Cardiology (incl. cardiovascular diseases)Developmental genetics (incl. sex determination)Neurology and neuromuscular diseasesPacific Peoples sport and physical activityEpigenetics (incl. genome methylation and epigenomics)
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Publications (10)

|Jul 02, 2026
[Cardiogenetics in clinical practice : challenges, indications, and perspectives].

|May 12, 2026
Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1.

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

Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas

|Nov 25, 2025
Vaccination coverage, immune responses, and clinical characteristics in children with PFAPA syndrome: a monocentric prospective study.

Emilie Sallansonnet, Renato Gualtieri, Henri Margot

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

|Apr 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Eric N Anderson, Stephan Drukewitz, Sukhleen Kour

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Frequent Collaborators

3 joint publications

Nicolas Chatron

2 joint publications

Frederic Tran Mau-Them

2 joint publications

Yoann Vial

2 joint publications

A Micheil Innes