Annick Toutain

26PUBLICATIONS
288CO-AUTHORS
French languageInfant and child healthCell and nuclear divisionGene and molecular therapyEpigenetics (incl. genome methylation and epigenomics)
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Publications (26)

|May 27, 2026
COCH-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype Correlations.

|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

|Feb 05, 2026
Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity.

Charlotte Tardy, Jean Philippe Trani, Victor Murcia Pienkowski

|Oct 01, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Liselot van der Laan, Karim Karimi, Kathleen Rooney

|Sep 17, 2025
Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.

Jeanne Jury, Thomas Besnard, Wallid Deb

|Aug 04, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Laurence Pacot, Marinus Blok, Dominique Vidaud

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Frequent Collaborators

4 joint publications

Anne-Sophie Denommé-Pichon

3 joint publications

Marie Vincent

3 joint publications

David Geneviève

3 joint publications

Benjamin Cogné