Publications by authors named "C Bris"

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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, Celine Bris

BMJ Open· October 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Céline Bris

medRxiv· September 2025

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MtDNA copy number enrichment is associated with poor prognosis and eosinophilic morphology in clear cell renal cell carcinoma.
Sarah Bellal, Cyrielle Rolley, Jeremy Richard, Nolwenn Bounaix, Vincent Le Corre, Céline Bris

Pathol Oncol Res· August 2025

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Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities.
Claudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Gueguen, Valérie Desquiret-Dumas, Méline Wery, Céline Bris

Am J Hum Genet· July 2025

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Autosomal dominant -related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.
Bobby G Ng, Erik A Eklund, Jill A Rosenfeld, Abdallah F Elias, Aya Abu-El-Haija, Celine Bris

Genet Med Open· March 2025

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