Martine Raynaud
Tours, France
Last Updated: 09/26/2026
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Found 27 publications
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Journal: American journal of human genetics
Published: June 04, 2021
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Journal: Human mutation
Published: December 18, 2020
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Journal: American journal of human genetics
Published: November 08, 2019
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 27, 2019
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Journal: Biological psychiatry
Published: March 27, 2019
LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability.
Journal: Neuroscience
Published: November 19, 2018
Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus.
Journal: Prenatal diagnosis
Published: October 29, 2018
Post hoc analysis of plasma amino acid profiles: towards a specific pattern in autism spectrum disorder and intellectual disability.
Journal: Annals of clinical biochemistry
Published: February 02, 2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Journal: Molecular psychiatry
Published: November 23, 2017
Last Updated: 09/26/2026