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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
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In: ISSN: 0002-9297 ; EISSN: 1537-6605 ; American Journal of Human Genetics ; https://hal.umontpellier.fr/hal-02556784 ; American Journal of Human Genetics, Elsevier (Cell Press), 2019, 105 (4), pp.854-868. ⟨10.1016/j.ajhg.2019.09.005⟩ (2019)
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Two De Novo Novel Mutations in One SHANK3 Allele in a Patient with Autism and Moderate Intellectual Disability
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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
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In: ISSN: 1432-1203 ; Hum Genet ; https://hal.archives-ouvertes.fr/hal-02104155 ; Hum Genet, 2017, 136, pp.377-386. ⟨10.1007/s00439-017-1763-1⟩ ; https://link.springer.com/article/10.1007/s00439-017-1763-1 (2017)
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