Marie Faoucher
Rennes, France
Last Updated: 09/26/2026
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Found 21 publications
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
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
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
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Journal: Journal of medical genetics
Published: April 02, 2024
Phenotypic characterisation of SMAD4 variant carriers.
Journal: Journal of medical genetics
Published: September 13, 2023
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 07, 2023
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
Journal: International journal of neonatal screening
Published: January 01, 2023
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 16, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Journal: American journal of human genetics
Published: September 01, 2022
Last Updated: 09/26/2026