Anne Guimier
Paris, France
Last Updated: 09/26/2026
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Found 35 publications
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.
Journal: European journal of human genetics : EJHG
Published: September 19, 2025
Molecular evolution of mosaic chromosome 18 copy-number alterations from gametes to hepatoblastoma.
Journal: JHEP reports : innovation in hepatology
Published: May 02, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Journal: Journal of medical genetics
Published: March 14, 2025
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.
Journal: Journal of medical genetics
Published: December 25, 2024
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities.
Journal: American journal of human genetics
Published: November 20, 2024
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Journal: Annals of neurology
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
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.
Journal: European journal of human genetics : EJHG
Published: July 11, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Journal: American journal of human genetics
Published: March 18, 2024
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
Journal: American journal of human genetics
Published: June 30, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Journal: European journal of human genetics : EJHG
Published: May 10, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Journal: European journal of human genetics : EJHG
Published: December 22, 2022
Last Updated: 09/26/2026