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Methods in Molecular Biology (Clifton, N.J.)|August 30, 2025
Structural and Mechanistic Diversity of Constitutional ChromoanagenesisSolène Doppler, Nicolas Chatron, Caroline Schluth-BolardJournal of Thrombosis and Haemostasis : JTH|July 27, 2022
Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6Yohann Jourdy, Nicolas Chatron, Mathilde Fretigny, et al.Journal of Gynecology Obstetrics and Human Reproduction|January 22, 2025
Advocating a specific risk calculation of trisomy 18 in case of low maternal serum markers during screening for fetal Down syndromeEmeline Gernez, Corinne Sault, Nicolas Chatron, et al.Journal of Autism and Developmental Disorders|March 29, 2018
Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?Caroline Demily, Gaétan Lesca, Alice Poisson, et al.European Journal of Human Genetics : EJHG|May 23, 2025
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill childrenClaire Caillot, Etienne Javouhey, Stéphane Hays, et al.Frontiers in Endocrinology|October 2, 2019
Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo DisorderFlorence Roucher-Boulez, Delphine Mallet, Nicolas Chatron, et al.Journal of Thrombosis and Haemostasis : JTH|January 25, 2023
Whole F9 gene sequencing identified deep intronic variations in genetically unresolved hemophilia B patientsAmy Dericquebourg, Mathilde Fretigny, Nicolas Chatron, et al.European Journal of Human Genetics : EJHG|May 16, 2024
Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformationsAnnabelle Chaussenot, Xavier Ayrignac, Nicolas Chatron, et al.Autophagy|May 20, 2026
A fetus with severe developmental defects caused by dominant-negative and hypomorphic ATG7 allelesMarion Carpentier, Nicolas Chatron, Isabelle Rouvet, et al.BMC Medical Genetics|January 10, 2020
Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case reportAlice Poisson, Nicolas Chatron, Audrey Labalme, et al.Pageof 12