Judith Onge-St

Dijon, France

Last Updated: 09/26/2026

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Found 37 publications

Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.

Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: June 05, 2023

mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.

mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.

Journal: Neurology. Genetics

Published: April 21, 2023

Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant.

Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant.

Journal: Human genetics

Published: May 10, 2020

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Journal: Nature genetics

Published: February 09, 2020

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.

Journal: Journal of child neurology

Published: October 17, 2019

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Journal: Nature genetics

Published: October 16, 2019

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.

Journal: Journal of medical genetics

Published: September 10, 2019

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Journal: Journal of medical genetics

Published: July 16, 2019

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Journal: American journal of human genetics

Published: May 28, 2019

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Journal: Neurogenetics

Published: December 23, 2018

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

Journal: Cell stem cell

Published: November 29, 2017

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.

Journal: Journal of medical genetics

Published: April 19, 2017

Showing 1-12 of 37

Last Updated: 09/26/2026