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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceHuman Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
Article dans une revue
hal-03719616v1
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Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndromenpj Genomic Medicine, 2019, 4 (1), pp.16. ⟨10.1038/s41525-019-0090-y⟩
Article dans une revue
hal-02347889v1
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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0582-3⟩
Article dans une revue
hal-02883449v1
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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.Genetics in Medicine, 2017, 19 (9), pp.989-997. ⟨10.1038/gim.2016.220⟩
Article dans une revue
hal-01560452v1
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