Marie-laure L. Vuillaume

Tours, France

Last Updated: 09/26/2026

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Found 29 publications

Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.

Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.

Journal: Neurogenetics

Published: July 02, 2025

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2.

Journal: American journal of medical genetics. Part A

Published: February 25, 2025

An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New PTRH2 Gene Variants.

An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New PTRH2 Gene Variants.

Journal: Genes

Published: October 24, 2024

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.

Journal: Clinical genetics

Published: September 20, 2024

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal: European journal of human genetics : EJHG

Published: July 26, 2024

Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

Journal: Human mutation

Published: June 30, 2024

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Journal: Epilepsia

Published: March 29, 2024

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal: European journal of human genetics : EJHG

Published: February 03, 2024

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

Journal: Human molecular genetics

Published: March 14, 2022

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.

Journal: American journal of human genetics

Published: December 23, 2020

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

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

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.

Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.

Journal: Human genetics

Published: July 17, 2020

Showing 1-12 of 29

Last Updated: 09/26/2026