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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 DisorderAmerican 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 syndromeEuropean Journal of Medical Genetics, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩
Article dans une revue
hal-03338019v1
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Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnosesEuropean Journal of Medical Genetics, 2017, 60 (11), pp.595 - 604. ⟨10.1016/j.ejmg.2017.08.011⟩
Article dans une revue
hal-01626052v1
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