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Page 1
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Ker… See abstract for full author list ➔ Jacquemont S, et al. Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406. Nature. 2011. PMID: 21881559 Free PMC article.
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium. D'Angelo D, et al. Among authors: jacquemont s. JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123. JAMA Psychiatry. 2016. PMID: 26629640 Free PMC article.
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium; Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A. Loviglio MN, et al. Among authors: jacquemont s. Mol Psychiatry. 2017 Jun;22(6):836-849. doi: 10.1038/mp.2016.84. Epub 2016 May 31. Mol Psychiatry. 2017. PMID: 27240531 Free PMC article.
Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, McCarroll S, Alda M, Jacquemont S, Ordulu Z, Marshall CR, Carter MT, Shaffer LG, Sklar P, Girirajan S, Morton CC, Gusella JF, Turecki G, Stavropoulos DJ, Sullivan PF, Scherer SW, Talkowski ME, Ernst C. Maussion G, et al. Among authors: jacquemont s. Am J Med Genet A. 2017 Feb;173(2):395-406. doi: 10.1002/ajmg.a.38021. Epub 2016 Oct 19. Am J Med Genet A. 2017. PMID: 27759917 Free PMC article.
Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.
Huguet G, Schramm C, Douard E, Jiang L, Labbe A, Tihy F, Mathonnet G, Nizard S, Lemyre E, Mathieu A, Poline JB, Loth E, Toro R, Schumann G, Conrod P, Pausova Z, Greenwood C, Paus T, Bourgeron T, Jacquemont S; IMAGEN Consortium. Huguet G, et al. Among authors: jacquemont s. JAMA Psychiatry. 2018 May 1;75(5):447-457. doi: 10.1001/jamapsychiatry.2018.0039. JAMA Psychiatry. 2018. PMID: 29562078 Free PMC article.
Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.
Writing Committee for the ENIGMA-CNV Working Group; van der Meer D, Sønderby IE, Kaufmann T, Walters GB, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn NB, Blangero J, Boomsma DI, Brodaty H, Brouwer RM, Bülow R, Cahn W, Calhoun VD, Caspers S, Cavalleri GL, Ching CRK, Cichon S, Ciufolini S, Corvin A, Crespo-Facorro B, Curran JE, Dalvie S, Dazzan P, de Geus EJC, de Zubicaray GI, de Zwarte SMC, Delanty N, den Braber A, Desrivieres S, Di Forti M, Doherty JL, Donohoe G, Ehrlich S, Eising E, Espeseth T, Fisher SE, Fladby T, Frei O, Frouin V, Fukunaga M, Gareau T, Glahn DC, Grabe HJ, Groenewold NA, Gústafsson Ó, Haavik J, Haberg AK, Hashimoto R, Hehir-Kwa JY, Hibar DP, Hillegers MHJ, Hoffmann P, Holleran L, Hottenga JJ, Hulshoff Pol HE, Ikeda M, Jacquemont S, Jahanshad N, Jockwitz C, Johansson S, Jönsson EG, Kikuchi M, Knowles EEM, Kwok JB, Le Hellard S, Linden DEJ, Liu J, Lundervold A, Lundervold AJ, Martin NG, Mather KA, Mathias SR, McMahon KL, McRae AF, Medland SE, Moberget T, Moreau C, Morris DW, Mühleisen TW, Murray RM, Nordvik JE, Nyberg L, Olde Loohuis LM, Ophoff RA, Owen MJ, Paus T, Pausova Z, Peralta JM, Pike B, Prieto C, Quinlan EB, Reinb… See abstract for full author list ➔ Writing Committee for the ENIGMA-CNV Working Group, et al. Among authors: jacquemont s. JAMA Psychiatry. 2020 Apr 1;77(4):420-430. doi: 10.1001/jamapsychiatry.2019.3779. JAMA Psychiatry. 2020. PMID: 31665216 Free PMC article.
Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome.
Douard E, Zeribi A, Schramm C, Tamer P, Loum MA, Nowak S, Saci Z, Lord MP, Rodríguez-Herreros B, Jean-Louis M, Moreau C, Loth E, Schumann G, Pausova Z, Elsabbagh M, Almasy L, Glahn DC, Bourgeron T, Labbe A, Paus T, Mottron L, Greenwood CMT, Huguet G, Jacquemont S. Douard E, et al. Among authors: jacquemont s. Am J Psychiatry. 2021 Jan 1;178(1):87-98. doi: 10.1176/appi.ajp.2020.19080834. Epub 2020 Sep 11. Am J Psychiatry. 2021. PMID: 32911998 Free PMC article.
Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia.
Moreau CA, Urchs SGW, Kuldeep K, Orban P, Schramm C, Dumas G, Labbe A, Huguet G, Douard E, Quirion PO, Lin A, Kushan L, Grot S, Luck D, Mendrek A, Potvin S, Stip E, Bourgeron T, Evans AC, Bearden CE, Bellec P, Jacquemont S. Moreau CA, et al. Among authors: jacquemont s. Nat Commun. 2020 Oct 19;11(1):5272. doi: 10.1038/s41467-020-18997-2. Nat Commun. 2020. PMID: 33077750 Free PMC article.
194 results