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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C
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In: EISSN: 2324-9269 ; Molecular Genetics & Genomic Medicine ; https://hal.sorbonne-universite.fr/hal-03365908 ; Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. In press, pp.e1645. ⟨10.1002/mgg3.1645⟩ (2021)
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| 2 |
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
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In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019)
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| 3 |
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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| 4 |
A human neurodevelopmental model for Williams syndrome.
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In: Nature, vol 536, iss 7616 (2016)
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A human neurodevelopmental model for Williams syndrome.
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In: Nature, vol 536, iss 7616 (2016)
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