Publications by authors named "E Ginglinger"

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deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.
Marion Lesieur-Sebellin, Kristen Wigby, Elise Schaefer, Aurélie Gouronc, Nicolas Chatron, Emmanuelle Ginglinger

J Med Genet· December 2025

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Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.
Yordi-Michaël Bouhatous, Pauline Arnaud, Guillaume Jondeau, Dominique Bonneau, Frédéric Rouleau, Emmanuelle Ginglinger

J Med Genet· August 2025

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Systematic analysis of SCN5A variants associated with inherited cardiac diseases.
Alexis Hermida, Guillaume Jedraszak, Flavie Ader, Isabelle Denjoy, Véronique Fressart, Emmanuelle Ginglinger

Heart Rhythm· March 2025

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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.
Médéric Jeanne, Nathalie Ronce, Solène Remizé, Stéphanie Arpin, Geneviève Baujat, Emmanuelle Ginglinger

J Med Genet· March 2025

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Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.
Sarah Baer, Audrey Schalk, Marguerite Miguet, Élise Schaefer, Salima El Chehadeh, Emmanuelle Ginglinger

Pediatr Neurol· October 2024

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