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Page 1
Subcortical Brain Alterations in Carriers of Genomic Copy Number Variants.
Kumar K, Modenato C, Moreau C, Ching CRK, Harvey A, Martin-Brevet S, Huguet G, Jean-Louis M, Douard E, Martin CO, Younis N, Tamer P, Maillard AM, Rodriguez-Herreros B, Pain A; 16p11.2 European Consortium, Simons Searchlight Consortium; Kushan L, Isaev D, Alpert K, Ragothaman A, Turner JA, Wang L, Ho TC, Schmaal L, Silva AI, van den Bree MBM, Linden DEJ, Owen MJ, Hall J, Lippé S, Dumas G, Draganski B, Gutman BA, Sønderby IE, Andreassen OA, Schultz LM, Almasy L, Glahn DC, Bearden CE, Thompson PM, Jacquemont S. Kumar K, et al. Am J Psychiatry. 2023 Sep 1;180(9):685-698. doi: 10.1176/appi.ajp.20220304. Epub 2023 Jul 12. Am J Psychiatry. 2023. PMID: 37434504
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium; Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium; Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. Reinthaler EM, et al. Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16. Hum Mol Genet. 2014. PMID: 24939913 Free article.
16p11.2 Locus modulates response to satiety before the onset of obesity.
Maillard AM, Hippolyte L, Rodriguez-Herreros B, Chawner SJ, Dremmel D, Agüera Z, Fagundo AB, Pain A, Martin-Brevet S, Hilbert A, Kurz S, Etienne R, Draganski B, Jimenez-Murcia S, Männik K, Metspalu A, Reigo A, Isidor B, Le Caignec C, David A, Mignot C, Keren B; 16p11.2 European Consortium; van den Bree MB, Munsch S, Fernandez-Aranda F, Beckmann JS, Reymond A, Jacquemont S. Maillard AM, et al. Int J Obes (Lond). 2016 May;40(5):870-6. doi: 10.1038/ijo.2015.247. Epub 2015 Dec 1. Int J Obes (Lond). 2016. PMID: 26620891 Free article.
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations.
Cárdenas-de-la-Parra A, Martin-Brevet S, Moreau C, Rodriguez-Herreros B, Fonov VS, Maillard AM, Zürcher NR; 16p11.2 European Consortium; Hadjikhani N, Beckmann JS, Reymond A, Draganski B, Jacquemont S, Collins DL. Cárdenas-de-la-Parra A, et al. Neuroimage. 2019 Dec;203:116155. doi: 10.1016/j.neuroimage.2019.116155. Epub 2019 Sep 5. Neuroimage. 2019. PMID: 31494251 Free article.
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
Maillard AM, Ruef A, Pizzagalli F, Migliavacca E, Hippolyte L, Adaszewski S, Dukart J, Ferrari C, Conus P, Männik K, Zazhytska M, Siffredi V, Maeder P, Kutalik Z, Kherif F, Hadjikhani N, Beckmann JS, Reymond A, Draganski B, Jacquemont S; 16p11.2 European Consortium. Maillard AM, et al. Mol Psychiatry. 2015 Feb;20(1):140-7. doi: 10.1038/mp.2014.145. Epub 2014 Nov 25. Mol Psychiatry. 2015. PMID: 25421402 Free PMC article.
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.
Sønderby IE, Gústafsson Ó, Doan NT, Hibar DP, Martin-Brevet S, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn N, Blangero J, Boomsma DI, Bralten J, Brattbak HR, Brodaty H, Brouwer RM, Bülow R, Calhoun V, Caspers S, Cavalleri G, Chen CH, Cichon S, Ciufolini S, Corvin A, Crespo-Facorro B, Curran JE, Dale AM, Dalvie S, Dazzan P, de Geus EJC, de Zubicaray GI, de Zwarte SMC, Delanty N, den Braber A, Desrivières S, Donohoe G, Draganski B, Ehrlich S, Espeseth T, Fisher SE, Franke B, Frouin V, Fukunaga M, Gareau T, Glahn DC, Grabe H, Groenewold NA, Haavik J, Håberg A, Hashimoto R, Hehir-Kwa JY, Heinz A, Hillegers MHJ, Hoffmann P, Holleran L, Hottenga JJ, Hulshoff HE, Ikeda M, Jahanshad N, Jernigan T, Jockwitz C, Johansson S, Jonsdottir GA, Jönsson EG, Kahn R, Kaufmann T, Kelly S, Kikuchi M, Knowles EEM, Kolskår KK, Kwok JB, Hellard SL, Leu C, Liu J, Lundervold AJ, Lundervold A, Martin NG, Mather K, Mathias SR, McCormack M, McMahon KL, McRae A, Milaneschi Y, Moreau C, Morris D, Mothersill D, Mühleisen TW, Murray R, Nordvik JE, Nyberg L, Olde Loohuis LM, Ophoff R, Paus T, Pausova Z, Penninx B, Peralta JM, Pike B, Prieto C, Pudas S, Quinlan E, Quintana DS, Re… See abstract for full author list ➔ Sønderby IE, et al. Mol Psychiatry. 2020 Mar;25(3):584-602. doi: 10.1038/s41380-018-0118-1. Epub 2018 Oct 3. Mol Psychiatry. 2020. PMID: 30283035 Free PMC article.
Subcortical brain alterations in carriers of genomic copy number variants.
Kumar K, Modenato C, Moreau C, Ching CRK, Harvey A, Martin-Brevet S, Huguet G, Jean-Louis M, Douard E, Martin CO, Younis N, Tamer P, Maillard AM, Rodriguez-Herreros B, Pain A, Richetin S; 16p11.2 European Consortium, Simons Searchlight Consortium; Kushan L, Isaev D, Alpert K, Ragothaman A, Turner JA, Wang L, Ho TC, Schmaal L, Silva AI, van den Bree MBM, Linden DEJ, Owen MJ, Hall J, Lippé S, Dumas G, Draganski B, Gutman BA, Sønderby IE, Andreassen OA, Schultz L, Almasy L, Glahn DC, Bearden CE, Thompson PM, Jacquemont S. Kumar K, et al. medRxiv [Preprint]. 2023 Feb 22:2023.02.14.23285913. doi: 10.1101/2023.02.14.23285913. medRxiv. 2023. PMID: 36865328 Free PMC article. Updated. Preprint.
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.
Martin-Brevet S, Rodríguez-Herreros B, Nielsen JA, Moreau C, Modenato C, Maillard AM, Pain A, Richetin S, Jønch AE, Qureshi AY, Zürcher NR, Conus P; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium; Chung WK, Sherr EH, Spiro JE, Kherif F, Beckmann JS, Hadjikhani N, Reymond A, Buckner RL, Draganski B, Jacquemont S. Martin-Brevet S, et al. Biol Psychiatry. 2018 Aug 15;84(4):253-264. doi: 10.1016/j.biopsych.2018.02.1176. Epub 2018 Mar 27. Biol Psychiatry. 2018. PMID: 29778275 Free article.
Effects of eight neuropsychiatric copy number variants on human brain structure.
Modenato C, Kumar K, Moreau C, Martin-Brevet S, Huguet G, Schramm C, Jean-Louis M, Martin CO, Younis N, Tamer P, Douard E, Thébault-Dagher F, Côté V, Charlebois AR, Deguire F, Maillard AM, Rodriguez-Herreros B, Pain A, Richetin S; 16p11.2 European Consortium; Simons Searchlight Consortium; Melie-Garcia L, Kushan L, Silva AI, van den Bree MBM, Linden DEJ, Owen MJ, Hall J, Lippé S, Chakravarty M, Bzdok D, Bearden CE, Draganski B, Jacquemont S. Modenato C, et al. Transl Psychiatry. 2021 Jul 20;11(1):399. doi: 10.1038/s41398-021-01490-9. Transl Psychiatry. 2021. PMID: 34285187 Free PMC article.
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA; 16p11.2 European Consortium; van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A. Migliavacca E, et al. Am J Hum Genet. 2015 May 7;96(5):784-96. doi: 10.1016/j.ajhg.2015.04.002. Epub 2015 Apr 30. Am J Hum Genet. 2015. PMID: 25937446 Free PMC article.
14 results