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List of works by Nicolas Chatron

12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome

article

Clinical spectrum of STX1B-related epileptic disorders.

scientific article published on 8 February 2019

Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies"

scientific article published on 20 May 2019

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

scientific article published on 10 December 2019

Detection of rare autosomal trisomies through non-invasive prenatal testing: benefits for pregnancy management

scientific article published on 01 January 2019

Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia

scientific article published on 16 August 2020

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization

scientific article published on 27 January 2020

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

scientific article published on 12 July 2019

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

scientific article published on 4 January 2017

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

scientific article published on 04 November 2020

Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

scientific article published on 03 May 2021

Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting

scientific article published on 01 August 2019

Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration

scientific article published on 24 August 2018

SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects

scientific article published on 09 August 2019

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