Publications by authors named "C Thauvin-Robinet"

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Genomic pathway managers: a novel role in the genomic medicine care pathway in France-overview and perspectives.
Léa Gaudillat, Léa Patay, Juliette Santenard, Amandine Baurand, Amandine Beaudouin, Christel Thauvin-Robinet

Eur J Hum Genet· December 2025

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Past, present, and future of genomic technologies in cerebellar ataxias.
Marie Lucain, Yannis Duffourd, Marlene Malbos, Antonio Vitobello, Christel Thauvin-Robinet

J Neurol· November 2025

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Expanding the phenotype associated with biallelic SCNM1 variants.
Asier Iturrate, Frédéric Tran-Mau Them, Alain Verloes, Antoine Pouzet, Deepthi de Silva, Christel Thauvin-Robinet

Hum Genomics· November 2025

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PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.
Camille Level, Christel Thauvin-Robinet, Christine Binquet, Yannis Duffourd, Emeline Davoine

BMJ Open· October 2025

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Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort.
Eléonore Viora-Dupont, Julian Delanne, Aurore Garde, Sophie Nambot, Estelle Colin, Christel Thauvin-Robinet

Mol Autism· October 2025

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