Researcher Profile

Nicolas Chatron

0000-0003-0538-0981

Publications

411

Citations

Co-Authors

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 Genome Medicine Apr 08, 2026

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies

Amandine Santini · Angelo Tognon · Anne-Claire Richard · Guillaume Velasco +46 more

10.1186/s13073-026-01639-5

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 Lancet Regional Health - Europe Mar 01, 2025

PFMG2025–integrating genomic medicine into the national healthcare system in France

Caroline Abadie · Aldja Abderrahmane · Ouarda Abdous · Carine Abel +1086 more

10.1016/j.lanepe.2024.101183 32 citations

Journal Article Epilepsia Feb 29, 2024

Developmental epileptic encephalopathy in DLG4‐related synaptopathy

Benedetta Kassabian · Amanda M. Levy · Elena Gardella · Angel Aledo‐Serrano +60 more

10.1111/epi.17876 10 citations

Open Access Journal Article Genetics in Medicine Aug 01, 2023

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

Véronique Caron · Nicolas Chassaing · Nicola Ragge · Felix Boschann +50 more

10.1016/j.gim.2023.100856 9 citations

Open Access Journal Article The American Journal of Human Genetics Mar 01, 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref-Eshghi · Jennifer Kerkhof · Victor P. Pedro · Mouna Barat-Houari +64 more

10.1016/j.ajhg.2020.01.019 287 citations

Open Access Journal Article Journal of Thrombosis and Haemostasis Jul 01, 2019

Severe hemophilia A caused by an unbalanced chromosomal rearrangement identified using nanopore sequencing

Nicolas Chatron · Caroline Schluth‐Bolard · Mathilde Frétigny · Audrey Labalme +6 more

10.1111/jth.14460 15 citations

Journal Article Annals of Neurology Apr 30, 2018

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

Nicolas Chatron · Rikke S. Møller · Neena L. Champaigne · Amy L. Schneider +23 more

10.1002/ana.25222 28 citations

Publication Timeline

2026

2025

2024

2023

2020

2019

2018

Frequent Co-Authors

Gaetan Lesca

6×

Laurence Faivre

4×

François Lecoquierre

4×

Valérie Cormier-Daire

4×

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