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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A. Pavinato L, et al. Among authors: howe jl. Brain. 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278. Brain. 2023. PMID: 35979925 Free PMC article.
Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.
Lionel AC, Crosbie J, Barbosa N, Goodale T, Thiruvahindrapuram B, Rickaby J, Gazzellone M, Carson AR, Howe JL, Wang Z, Wei J, Stewart AF, Roberts R, McPherson R, Fiebig A, Franke A, Schreiber S, Zwaigenbaum L, Fernandez BA, Roberts W, Arnold PD, Szatmari P, Marshall CR, Schachar R, Scherer SW. Lionel AC, et al. Among authors: howe jl. Sci Transl Med. 2011 Aug 10;3(95):95ra75. doi: 10.1126/scitranslmed.3002464. Sci Transl Med. 2011. PMID: 21832240
Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons.
Deneault E, White SH, Rodrigues DC, Ross PJ, Faheem M, Zaslavsky K, Wang Z, Alexandrova R, Pellecchia G, Wei W, Piekna A, Kaur G, Howe JL, Kwan V, Thiruvahindrapuram B, Walker S, Lionel AC, Pasceri P, Merico D, Yuen RKC, Singh KK, Ellis J, Scherer SW. Deneault E, et al. Among authors: howe jl. Stem Cell Reports. 2018 Nov 13;11(5):1211-1225. doi: 10.1016/j.stemcr.2018.10.003. Epub 2018 Nov 1. Stem Cell Reports. 2018. PMID: 30392976 Free PMC article.
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Schaaf CP, Betancur C, Yuen RKC, Parr JR, Skuse DH, Gallagher L, Bernier RA, Buchanan JA, Buxbaum JD, Chen CA, Dies KA, Elsabbagh M, Firth HV, Frazier T, Hoang N, Howe J, Marshall CR, Michaud JL, Rennie O, Szatmari P, Chung WK, Bolton PF, Cook EH, Scherer SW, Vorstman JAS. Schaaf CP, et al. Among authors: howe j. Nat Rev Genet. 2020 Jun;21(6):367-376. doi: 10.1038/s41576-020-0231-2. Epub 2020 Apr 21. Nat Rev Genet. 2020. PMID: 32317787 Free PMC article. Review.
143 results