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authFullName_s : Nolwenn Jean
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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder

Francesca Mattioli , Gaelle Hayot , Nathalie Drouot , Bertrand Isidor , Jérémie Courraud et al.
American Journal of Human Genetics, 2020, 106 (4), pp.438-452. ⟨10.1016/j.ajhg.2020.02.013⟩
Article dans une revue hal-03339508v1
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Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

Pierre-Henri Roux-Levy , Marie Bournez , Alice Masurel , Nolwenn Jean , Sophie Chancenotte et al.
European Journal of Medical Genetics, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩
Article dans une revue hal-03338019v1

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Aurélie Bourchany , Christel Thauvin-Robinet , Daphne Lehalle , Ange-Line Bruel , Paul Masurel-Paulet et al.
European Journal of Medical Genetics, 2017, 60 (11), pp.595 - 604. ⟨10.1016/j.ejmg.2017.08.011⟩
Article dans une revue hal-01626052v1