Publications by authors named "Coline Cormier"

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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, Coline Cormier

BMJ Open· October 2025

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Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report.
Bertille Bonniaud, Maxime Luu, Coline Cormier, Caroline Racine, Aurélie Espitalier

Eur J Med Genet· June 2025

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Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, , Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.
Amélie Cordovado, Yvan Hérenger, Coline Cormier, Estrella López-Martín, Hannah Stamberger

Hum Mutat· April 2025

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