Publications by authors named "S Mercier"

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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Jiawan Sun, Sandra Mercier

Cell· December 2025

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Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.
Xiaoxia Peng, Xiangbin Jia, Hanying Wang, Jingjing Chen, Xiaolei Zhang, Sandra Mercier

J Clin Invest· November 2025

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[Giving a second life: the journey to and after kidney transplantation].
Sylvie Mercier

Rev Infirm· October 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, Sandra Mercier

BMJ Open· October 2025

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Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.
Virginie Vignard, Mike Maillasson, Anne Bigot, Sébastien Küry, Thomas Besnard, Sandra Mercier

EBioMedicine· September 2025

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