Laurence Hubert
Paris, France
Last Updated: 09/26/2026
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Found 34 publications
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.
Journal: The Journal of clinical investigation
Published: March 24, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Journal: American journal of human genetics
Published: December 14, 2022
Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.
Journal: Brain : a journal of neurology
Published: March 11, 2022
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Journal: Journal of medical genetics
Published: July 22, 2020
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Journal: Annals of neurology
Published: July 20, 2020
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Journal: Epilepsia
Published: June 05, 2020
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.
Journal: Brain : a journal of neurology
Published: January 24, 2020
Twenty years of on-site clinical genetics consultations for people with ASD
Journal: Medecine sciences : M/S
Published: December 18, 2019
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
Journal: Brain : a journal of neurology
Published: April 30, 2019
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Journal: Molecular autism
Published: February 01, 2019
De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.
Journal: Journal of medical genetics
Published: December 10, 2018
Last Updated: 09/26/2026