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Care management in a French cohort with down syndrome from the AnDDI-Rares/CNSA study

Pierre-Henri Roux-Levy , Damien Sanlaville , Benedicte de Freminville , Renaud Touraine , Alice Masurel et al.
European Journal of Medical Genetics, 2021, 64 (10), ⟨10.1016/j.ejmg.2021.104290⟩
Article dans une revue hal-03403503v1
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Genome sequencing for genetics diagnosis of patients with intellectual disability: the DEFIDIAG study

C Binquet , Catherine Lejeune , Laurence Faivre , Marion Bouctot , Marie-Laure Asensio et al.
Frontiers in Genetics, 2022, 12, pp.766964. ⟨10.3389/fgene.2021.766964⟩
Article dans une revue hal-03610031v1

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Paul Kuentz , Judith Saint-Onge , Yannis Duffourd , Jean-Benoît Courcet , Virginie Carmignac et al.
Genetics in Medicine, 2017, 19 (9), pp.989-997. ⟨10.1038/gim.2016.220⟩
Article dans une revue hal-01560452v1
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Juliette C Piard , Lara Hawkes , Mathieu Milh , Laurent Villard , Renato Borgatti et al.
Genetics in Medicine, 2019, 21 (6), pp.1308-1318. ⟨10.1038/s41436-018-0339-3⟩
Article dans une revue hal-01932796v1
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PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Katrine M Johannesen , Elena Gardella , Cathrine E Gjerulfsen , Allan Bayat , Rob P W Rouhl et al.
Neurology Genetics, 2021, 7 (6), pp.e613. ⟨10.1212/nxg.0000000000000613⟩
Article dans une revue hal-03881856v1