List of works by Angélique Quartier

De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

scientific article published on 19 March 2020

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

scientific article

Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder

scientific article published on 9 January 2018

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.

scientific article published on 8 February 2017

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

scientific article

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

scientific article published on 29 July 2019

Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule

scientific article

Sex-specific impact of prenatal androgens on social brain default mode subsystems

scientific article published on 13 August 2018

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