Anne-claire Richard

Rouen, 76000, France

Last Updated: 09/26/2026

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Found 46 publications

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

Journal: American journal of human genetics

Published: April 20, 2026

Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios.

Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios.

Journal: Molecular psychiatry

Published: October 02, 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: 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

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Journal: Genome medicine

Published: May 20, 2025

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Journal: Molecular neurodegeneration

Published: February 20, 2025

RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.

RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: January 06, 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

Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants.

Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants.

Journal: Genes & diseases

Published: January 23, 2024

Upstream open reading frame-introducing variants in patients with primary familial brain calcification.

Upstream open reading frame-introducing variants in patients with primary familial brain calcification.

Journal: European journal of human genetics : EJHG

Published: December 13, 2023

Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.

Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.

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

Published: July 11, 2023

A longitudinal comparison of emotional, behavioral and attention problems in autistic and typically developing children.

A longitudinal comparison of emotional, behavioral and attention problems in autistic and typically developing children.

Journal: Psychological medicine

Published: June 29, 2023

Showing 1-12 of 46

Last Updated: 09/26/2026