Hubert Journel
Bretagne, France
Last Updated: 09/26/2026
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Found 31 publications
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Journal: Science advances
Published: March 10, 2023
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Journal: Journal of medical genetics
Published: January 28, 2021
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Journal: Human mutation
Published: November 05, 2019
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability.
Journal: Orphanet journal of rare diseases
Published: February 19, 2019
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Journal: Molecular genetics & genomic medicine
Published: January 29, 2019
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Journal: European journal of human genetics : EJHG
Published: January 29, 2019
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.
Journal: Journal of the neurological sciences
Published: January 23, 2019
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 04, 2018
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
Journal: Human genetics
Published: September 17, 2018
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 17, 2018
Last Updated: 09/26/2026