Publications by authors named "Valentin Ruault"

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ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO format.
Lucas W Gauthier, Marjolaine Willems, Nicolas Chatron, Camille Cenni, Pierre Meyer, Valentin Ruault

NAR Genom Bioinform· December 2025

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Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.
Florence Desprez, Solène Remize, Liberty François-Moutal, Dévina C Ung, Audrey Dangoumau, Valentin Ruault

Mol Psychiatry· November 2025

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Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.
Ange-Line Bruel, Anneke T Vulto-vanSilfhout, Frédéric Bilan, Gwenaël Le Guyader, Brigitte Gilbert-Dussardier, Valentin Ruault

Eur J Hum Genet· July 2025

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AUTS2-related syndrome: Insights from a large European cohort.
Lorenzo Loberti, Loredaria Adamo, Enrica Antolini, Giulia Casamassima, Anne Destrèe, Valentin Ruault

Genet Med· June 2025

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Growth charts in DYRK1A syndrome.
Pierre-Louis Lanvin, Thomas Goronflot, Bertrand Isidor, Mathilde Nizon, Benjamin Durand, Valentin Ruault

Am J Med Genet A· January 2024

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Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, Chloé Trouvé, Jeanne Amiel, Valentin Ruault

Genet Med· January 2024

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Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz,

Mol Genet Genomic Med· January 2024

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Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
Constance F Wells, Guilaine Boursier, Kevin Yauy, Nathalie Ruiz-Pallares, Déborah Mechin, Valentin Ruault

Eur J Hum Genet· September 2022

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Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.
Valentin Ruault, Kevin Yauy, Aurélie Fabre, Mélanie Fradin, Julien Van-Gils

Arthritis Rheumatol· October 2020

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Growth charts in Kabuki syndrome 1.
Valentin Ruault, Carole Corsini, Claire Duflos, Sandrine Akouete, Véra Georgescu

Am J Med Genet A· March 2020

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