M

Researcher Profile

Mathilde Nizon

0000-0003-2170-4210

4

Publications

82

Citations

10

Co-Authors

4

Active Years

Publications

Journal Article European Journal of Human Genetics Mar 25, 2026

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals

Quentin Sabbagh · Camille Cenni · Sadegheh Haghshenas · Jean-Luc Alessandri +56 more

10.1038/s41431-026-02083-0

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

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

Journal Article European Journal of Human Genetics Sep 15, 2021

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

Alexander J. M. Dingemans · Kim M. G. Truijen · Jung-Hyun Kim · Zahide Alaçam +21 more

10.1038/s41431-021-00960-4 31 citations

Publication Timeline

2026

1

2025

1

2024

1

2021

1

Frequent Co-Authors

Erica H. Gerkes

Marta Spodenkiewicz

Laetitia Lambert

Benjamin Cogné

Laurence Faivre

Caroline Racine

Marjolaine Willems