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1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.
Sønderby IE, van der Meer D, Moreau C, Kaufmann T, Walters GB, Ellegaard M, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn NB, Blangero J, Boomsma DI, Brodaty H, Brouwer RM, Bülow R, Bøen R, Cahn W, Calhoun VD, Caspers S, Ching CRK, Cichon S, Ciufolini S, Crespo-Facorro B, Curran JE, Dale AM, Dalvie S, Dazzan P, de Geus EJC, de Zubicaray GI, de Zwarte SMC, Desrivieres S, Doherty JL, Donohoe G, Draganski B, Ehrlich S, Eising E, Espeseth T, Fejgin K, Fisher SE, Fladby T, Frei O, Frouin V, Fukunaga M, Gareau T, Ge T, Glahn DC, Grabe HJ, Groenewold NA, Gústafsson Ó, Haavik J, Haberg AK, Hall J, Hashimoto R, Hehir-Kwa JY, Hibar DP, Hillegers MHJ, Hoffmann P, Holleran L, Holmes AJ, Homuth G, Hottenga JJ, Hulshoff Pol HE, Ikeda M, Jahanshad N, Jockwitz C, Johansson S, Jönsson EG, Jørgensen NR, Kikuchi M, Knowles EEM, Kumar K, Le Hellard S, Leu C, Linden DEJ, Liu J, Lundervold A, Lundervold AJ, Maillard AM, Martin NG, Martin-Brevet S, Mather KA, Mathias SR, McMahon KL, McRae AF, Medland SE, Meyer-Lindenberg A, Moberget T, Modenato C, Sánchez JM, Morris DW, Mühleisen TW, Murray RM, Nielsen J, Nordvik JE, Nyberg L, Loohuis LMO, Ophoff RA, Owen MJ, Paus T, Pa… See abstract for full author list ➔ Sønderby IE, et al. Transl Psychiatry. 2021 Mar 22;11(1):182. doi: 10.1038/s41398-021-01213-0. Transl Psychiatry. 2021. PMID: 33753722 Free PMC article.
Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers.
Boen R, Kaufmann T, van der Meer D, Frei O, Agartz I, Ames D, Andersson M, Armstrong NJ, Artiges E, Atkins JR, Bauer J, Benedetti F, Boomsma DI, Brodaty H, Brosch K, Buckner RL, Cairns MJ, Calhoun V, Caspers S, Cichon S, Corvin AP, Crespo-Facorro B, Dannlowski U, David FS, de Geus EJC, de Zubicaray GI, Desrivières S, Doherty JL, Donohoe G, Ehrlich S, Eising E, Espeseth T, Fisher SE, Forstner AJ, Fortaner-Uyà L, Frouin V, Fukunaga M, Ge T, Glahn DC, Goltermann J, Grabe HJ, Green MJ, Groenewold NA, Grotegerd D, Grøntvedt GR, Hahn T, Hashimoto R, Hehir-Kwa JY, Henskens FA, Holmes AJ, Håberg AK, Haavik J, Jacquemont S, Jansen A, Jockwitz C, Jönsson EG, Kikuchi M, Kircher T, Kumar K, Le Hellard S, Leu C, Linden DE, Liu J, Loughnan R, Mather KA, McMahon KL, McRae AF, Medland SE, Meinert S, Moreau CA, Morris DW, Mowry BJ, Mühleisen TW, Nenadić I, Nöthen MM, Nyberg L, Ophoff RA, Owen MJ, Pantelis C, Paolini M, Paus T, Pausova Z, Persson K, Quidé Y, Marques TR, Sachdev PS, Sando SB, Schall U, Scott RJ, Selbæk G, Shumskaya E, Silva AI, Sisodiya SM, Stein F, Stein DJ, Straube B, Streit F, Strike LT, Teumer A, Teutenberg L, Thalamuthu A, Tooney PA, Tordesillas-Gutierrez D, Trollor JN, van 't … See abstract for full author list ➔ Boen R, et al. Biol Psychiatry. 2024 Jan 15;95(2):147-160. doi: 10.1016/j.biopsych.2023.08.018. Epub 2023 Sep 3. Biol Psychiatry. 2024. PMID: 37661008 Free PMC article.
The psychiatric phenotypes of 1q21 distal deletion and duplication.
Linden SC, Watson CJ, Smith J, Chawner SJRA, Lancaster TM, Evans F, Williams N, Skuse D, Raymond FL, Hall J, Owen MJ, Linden DEJ, Green-Snyder L, Chung WK, Maillard AM, Jacquemont S, van den Bree MBM. Linden SC, et al. Transl Psychiatry. 2021 Feb 4;11(1):105. doi: 10.1038/s41398-021-01226-9. Transl Psychiatry. 2021. PMID: 33542195 Free PMC article.
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature.
Oliva-Teles N, de Stefano MC, Gallagher L, Rakic S, Jorge P, Cuturilo G, Markovska-Simoska S, Borg I, Wolstencroft J, Tümer Z, Harwood AJ, Kodra Y, Skuse D. Oliva-Teles N, et al. Int J Environ Res Public Health. 2020 Dec 10;17(24):9253. doi: 10.3390/ijerph17249253. Int J Environ Res Public Health. 2020. PMID: 33321999 Free PMC article. Review.
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