Vincent CANTAGREL | Institut Imagine

Presentation

Vincent CANTAGREL

Genetics of Neurodevelopmental Disorders

Contact :

vincent.cantagrel@institutimagine.org

About

Scientific Publications

Publications

2026

Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disor..., Am J Hum Genet
2025

Deciphering the genetic basis of developmental language disorder in children ..., Mol Autism
2024

The characterization of new de novo CACNA1G variants affecting the intracellu..., Genet Med
2023

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protei..., Springer Science and Business Media LLC
2022

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 ..., Hum Mol Genet
2022

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c..., Am J Hum Genet
2021

[A disruption of inositol phosphates metabolism causes pontocerebellar hypopl..., Med Sci (Paris)
2021

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder., Nat Commun
2021

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative bl..., Blood
2020

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph..., Nat Commun
2020

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct,..., Am J Hum Genet
2019

Biallelic mutations in neurofascin cause neurodevelopmental impairment and pe..., Brain
2018

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes t..., Elife
2018

De novo mutation screening in childhood-onset cerebellar atrophy identifies g..., Brain
2018

Genotype-phenotype correlations in individuals with pathogenic RERE variants., Hum Mutat
2017

WDR81 mutations cause extreme microcephaly and impair mitotic progression in ..., Brain
2016

Utility of whole exome sequencing for the early diagnosis of pediatric-onset ..., Orphanet J Rare Dis
2016

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spec..., Am J Hum Genet
2015

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly., Neurogenetics
2015

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and..., Nat Genet
2014

Identification of a novel ARL13B variant in a Joubert syndrome-affected patie..., Eur J Hum Genet
2014

CLP1 founder mutation links tRNA splicing and maturation to cerebellar develo..., Cell
2013

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neuro..., Cell

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Presentation

About

Scientific Publications

Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disor..., Am J Hum Genet

Deciphering the genetic basis of developmental language disorder in children ..., Mol Autism

The characterization of new de novo CACNA1G variants affecting the intracellu..., Genet Med

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protei..., Springer Science and Business Media LLC

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 ..., Hum Mol Genet

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c..., Am J Hum Genet

[A disruption of inositol phosphates metabolism causes pontocerebellar hypopl..., Med Sci (Paris)

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder., Nat Commun

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative bl..., Blood

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph..., Nat Commun

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct,..., Am J Hum Genet

Biallelic mutations in neurofascin cause neurodevelopmental impairment and pe..., Brain

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes t..., Elife

De novo mutation screening in childhood-onset cerebellar atrophy identifies g..., Brain

Genotype-phenotype correlations in individuals with pathogenic RERE variants., Hum Mutat

WDR81 mutations cause extreme microcephaly and impair mitotic progression in ..., Brain

Utility of whole exome sequencing for the early diagnosis of pediatric-onset ..., Orphanet J Rare Dis

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spec..., Am J Hum Genet

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly., Neurogenetics

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and..., Nat Genet

Identification of a novel ARL13B variant in a Joubert syndrome-affected patie..., Eur J Hum Genet

CLP1 founder mutation links tRNA splicing and maturation to cerebellar develo..., Cell

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neuro..., Cell