T

Researcher Profile

Thomas Besnard

5

Publications

214

Citations

10

Co-Authors

3

Active Years

Publications

Open Access Journal Article Nature Genetics May 16, 2025

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava · Benjamin Cogné · Amandine Santini · Elsa Leitão +260 more

10.1038/s41588-025-02184-4 30 citations

Journal Article American Journal of Medical Genetics Part A Sep 11, 2025

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder

Samuel M Bradbrook · Gail Graham · Melissa T. Carter · Maria Kibaek +38 more

10.1002/ajmg.a.64242 2 citations

Open Access Journal Article The American Journal of Human Genetics Aug 01, 2024

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Dmitrijs Rots · Sanaa Choufani · Víctor Faundes · Alexander J.M. Dingemans +100 more

10.1016/j.ajhg.2024.06.009 21 citations

Open Access Journal Article The American Journal of Human Genetics Sep 01, 2016

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

Mari J. Tokita · Alicia A. Braxton · Yunru Shao · Andrea M. Lewis +23 more

10.1016/j.ajhg.2016.06.035 53 citations

Open Access Journal Article The American Journal of Human Genetics May 01, 2016

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Slavé Petrovski · Sébastien Küry · Candace T. Myers · Kwame Anyane-Yeboa +42 more

10.1016/j.ajhg.2016.03.011 108 citations

Publication Timeline

2025

2

2024

1

2016

2

Frequent Co-Authors

Bertrand Isidor

Benjamin Cogné

Stéphane Bézieau

Julien Marcadier

Xénia Latypova

Sébastien Küry

Elise Brischoux-Boucher