Laurence HUBERT | Institut Imagine

Présentation

Ingénieur d études

Laurence HUBERT

Génétique des maladies rares ophtalmologiques, auditives et mitochondriales

Contact :

laurence.hubert@institutimagine.org

À propos

Publications scientifiques

Publications

2024

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated w..., J Clin Invest
2023

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorde..., Am J Hum Genet
2022

Biallelic variants in are associated with low muscle cardiolipin levels, lea..., HGG Adv
2021

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism., Ann Neurol
2020

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or b..., J Med Genet
2020

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated wit..., Brain
2020

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term ou..., Epilepsia
2019

[Twenty years of on-site clinical genetics consultations for people with ASD]., Med Sci (Paris)
2019

SCAMP5 mutation causes a neurodevelopmental disorder with autistic features a..., J Med Genet
2019

Impact of on-site clinical genetics consultations on diagnostic rate in child..., Mol Autism
2019

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability..., Brain
2018

Mutations in TBR1 gene leads to cortical malformations and intellectual disab..., Eur J Med Genet
2018

IQSEC2-related encephalopathy in males and females: a comparative study inclu..., Genet Med
2018

De novo mutation screening in childhood-onset cerebellar atrophy identifies g..., Brain
2017

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual..., Am J Hum Genet
2017

Somatic mosaicism for SLC1A1 mutation supports threshold effect and familial ..., Schizophr Res
2017

Mutations in the novel gene FOPV are associated with familial autosomal domin..., Liver Int
2017

CSNK2B splice site mutations in patients cause intellectual disability with o..., Hum Mutat
2017

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with ..., Am J Hum Genet
2016

Mutations in BOREALIN cause thyroid dysgenesis., Hum Mol Genet
2016

Mosaicism in ATP1A3-related disorders: not just a theoretical risk., Neurogenetics
2015

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly., Neurogenetics
2014

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either i..., J Med Genet

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Présentation

À propos

Publications scientifiques

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated w..., J Clin Invest

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorde..., Am J Hum Genet

Biallelic variants in are associated with low muscle cardiolipin levels, lea..., HGG Adv

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism., Ann Neurol

Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or b..., J Med Genet

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated wit..., Brain

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term ou..., Epilepsia

[Twenty years of on-site clinical genetics consultations for people with ASD]., Med Sci (Paris)

SCAMP5 mutation causes a neurodevelopmental disorder with autistic features a..., J Med Genet

Impact of on-site clinical genetics consultations on diagnostic rate in child..., Mol Autism

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability..., Brain

Mutations in TBR1 gene leads to cortical malformations and intellectual disab..., Eur J Med Genet

IQSEC2-related encephalopathy in males and females: a comparative study inclu..., Genet Med

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

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual..., Am J Hum Genet

Somatic mosaicism for SLC1A1 mutation supports threshold effect and familial ..., Schizophr Res

Mutations in the novel gene FOPV are associated with familial autosomal domin..., Liver Int

CSNK2B splice site mutations in patients cause intellectual disability with o..., Hum Mutat

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with ..., Am J Hum Genet

Mutations in BOREALIN cause thyroid dysgenesis., Hum Mol Genet

Mosaicism in ATP1A3-related disorders: not just a theoretical risk., Neurogenetics

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

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either i..., J Med Genet