Christele Dubourg
Rennes, France
Last Updated: 09/26/2026
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Found 91 publications
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.
Journal: American journal of human genetics
Published: February 12, 2026
Evaluation of the contribution of trio-exome sequencing in selected prenatal indications.
Journal: Frontiers in genetics
Published: December 05, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: medRxiv : the preprint server for health sciences
Published: September 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: Nature genetics
Published: September 02, 2025
Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene.
Journal: Virchows Archiv : an international journal of pathology
Published: May 26, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.
Journal: European journal of human genetics : EJHG
Published: May 01, 2025
Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies.
Journal: Journal of assisted reproduction and genetics
Published: April 29, 2025
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.
Journal: European journal of neurology
Published: April 22, 2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.
Journal: American journal of human genetics
Published: April 07, 2025
Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival.
Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival.
Journal: Movement disorders clinical practice
Published: February 20, 2025
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.
Journal: Clinical genetics
Published: October 28, 2024
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
Last Updated: 09/26/2026