Anne Faudet

Paris, France

Last Updated: 09/26/2026

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Found 17 publications

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

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.

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

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

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

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

Journal: Genetics in medicine open

Published: November 30, 2023

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Journal: European journal of human genetics : EJHG

Published: November 13, 2023

Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.

Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.

Journal: Journal of medical genetics

Published: March 23, 2023

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.

Journal: Frontiers in cell and developmental biology

Published: August 17, 2022

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.

Journal: Clinical genetics

Published: October 06, 2021

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 11, 2020

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.

Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features.

Journal: Clinical genetics

Published: December 11, 2017

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

Journal: The Journal of pediatrics

Published: September 29, 2016

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Journal: Brain : a journal of neurology

Published: July 31, 2016

Showing 1-12 of 17

Last Updated: 09/26/2026