Annick Toutain

Tours, France

Last Updated: 09/26/2026

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Found 151 publications

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Journal: Neurology

Published: May 26, 2026

COCH-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype Correlations.

COCH-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype Correlations.

Journal: Genes

Published: April 25, 2026

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Journal: Neurology

Published: January 15, 2026

Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity.

Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity.

Journal: Brain : a journal of neurology

Published: August 12, 2025

Second occurrence of the PAK3-R67C variation and multiscale analysis of the corresponding knock-in mice reveal novel phenotypic features and functional synaptic defects.

Second occurrence of the PAK3-R67C variation and multiscale analysis of the corresponding knock-in mice reveal novel phenotypic features and functional synaptic defects.

Journal: Neurobiology of disease

Published: May 15, 2025

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Journal: European journal of human genetics : EJHG

Published: May 01, 2025

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Journal: Journal of medical genetics

Published: March 14, 2025

RBM20 Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants.

RBM20 Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants.

Journal: Circulation. Heart failure

Published: January 17, 2025

Camptocormia as a feature of Mc Ardle's disease: A case report.

Camptocormia as a feature of Mc Ardle's disease: A case report.

Journal: Molecular genetics and metabolism reports

Published: November 25, 2024

Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.

Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.

Journal: Journal of medical genetics

Published: November 05, 2024

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

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.

Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.

Journal: Clinical genetics

Published: September 20, 2024

Showing 1-12 of 151

Last Updated: 09/26/2026