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1
Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome
In: ISSN: 0002-953X ; EISSN: 1535-7228 ; American Journal of Psychiatry ; https://hal-pasteur.archives-ouvertes.fr/pasteur-03325371 ; American Journal of Psychiatry, American Psychiatric Publishing, 2021, 178 (1), pp.87-98. ⟨10.1176/appi.ajp.2020.19080834⟩ (2021)
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2
Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity
In: ISSN: 1757-4676 ; EISSN: 1757-4684 ; EMBO Molecular Medicine ; https://hal.archives-ouvertes.fr/hal-03602489 ; EMBO Molecular Medicine, Wiley Open Access, 2020, 12 (9), pp.e11908. ⟨10.15252/emmm.201911908⟩ (2020)
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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
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
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
In: American journal of human genetics, vol 99, iss 3 (2016)
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5
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
In: Jama Psychiatry, vol. 73, no. 1, pp. 20-30 (2016)
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6
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
In: Biological psychiatry, vol. 80, no. 2, pp. 129-139 (2016)
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7
The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies.
In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2013)
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8
Further clinical and molecular delineation of the 15q24 microdeletion syndrome
Mefford, Heather C; Rosenfeld, Jill A; Shur, Natasha. - : British Medical Journal Publishing Group, 2012
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