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Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.
Woodward KJ, Stampalia J, Vanyai H, Rijhumal H, Potts K, Taylor F, Peverall J, Grumball T, Sivamoorthy S, Alinejad-Rokny H, Wray J, Whitehouse A, Nagarajan L, Scurlock J, Afchani S, Edwards M, Murch A, Beilby J, Baynam G, Kiraly-Borri C, McKenzie F, Heng JIT. Woodward KJ, et al. Among authors: wray j. Mol Genet Genomic Med. 2019 Feb;7(2):e00507. doi: 10.1002/mgg3.507. Epub 2019 Jan 4. Mol Genet Genomic Med. 2019. PMID: 30614210 Free PMC article.
Pre-emptive intervention versus treatment as usual for infants showing early behavioural risk signs of autism spectrum disorder: a single-blind, randomised controlled trial.
Whitehouse AJO, Varcin KJ, Alvares GA, Barbaro J, Bent C, Boutrus M, Chetcuti L, Cooper MN, Clark A, Davidson E, Dimov S, Dissanayake C, Doyle J, Grant M, Iacono T, Maybery M, Pillar S, Renton M, Rowbottam C, Sadka N, Segal L, Slonims V, Taylor C, Wakeling S, Wan MW, Wray J, Green J, Hudry K. Whitehouse AJO, et al. Among authors: wray j. Lancet Child Adolesc Health. 2019 Sep;3(9):605-615. doi: 10.1016/S2352-4642(19)30184-1. Epub 2019 Jul 16. Lancet Child Adolesc Health. 2019. PMID: 31324597 Clinical Trial.
719 results