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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
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In: Jama Psychiatry, vol. 73, no. 1, pp. 20-30 (2016)
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GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
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In: Symplectic Elements at Oxford ; Scopus (http://www.scopus.com/home.url) (2013)
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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
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In: Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668 (2012)
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Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
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In: ISSN: 0022-2593 ; EISSN: 1468-6244 ; Journal of Medical Genetics ; https://hal.archives-ouvertes.fr/hal-02128729 ; Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (6), pp.377-384. ⟨10.1136/jmg.2009.071902⟩ (2010)
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