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Page 1
Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances.
Tesfaye R, Huguet G, Schmilovich Z, Renne T, Loum MA, Douard E, Saci Z, Jean-Louis M, Martineau JL, Whelan R, Desrivieres S, Heinz A, Schumann G, Hayward C, Elsabbagh M, Jacquemont S. Tesfaye R, et al. Among authors: jacquemont s. Transl Psychiatry. 2022 Oct 3;12(1):424. doi: 10.1038/s41398-022-02188-2. Transl Psychiatry. 2022. PMID: 36192372 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.
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.
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. Among authors: jacquemont s. 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.
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. Among authors: jacquemont s. 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.
Psychiatric disorders in children with 16p11.2 deletion and duplication.
Niarchou M, Chawner SJRA, Doherty JL, Maillard AM, Jacquemont S, Chung WK, Green-Snyder L, Bernier RA, Goin-Kochel RP, Hanson E, Linden DEJ, Linden SC, Raymond FL, Skuse D, Hall J, Owen MJ, Bree MBMVD. Niarchou M, et al. Among authors: jacquemont s. Transl Psychiatry. 2019 Jan 16;9(1):8. doi: 10.1038/s41398-018-0339-8. Transl Psychiatry. 2019. PMID: 30664628 Free PMC article.
Correction: 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. Among authors: jacquemont s. Mol Psychiatry. 2020 Mar;25(3):692-695. doi: 10.1038/s41380-019-0358-8. Mol Psychiatry. 2020. PMID: 30705424 Free PMC article.
Tinkering with the vasopressin pathway in autism.
Forgeot d'Arc B, Mottron L, Elsabbagh M, Jacquemont S. Forgeot d'Arc B, et al. Among authors: jacquemont s. Sci Transl Med. 2019 May 8;11(491):eaax7315. doi: 10.1126/scitranslmed.aax7315. Sci Transl Med. 2019. PMID: 31068443 Review.
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S; 15q11.2 Working Group. Jønch AE, et al. Among authors: jacquemont s. J Med Genet. 2019 Oct;56(10):701-710. doi: 10.1136/jmedgenet-2018-105879. Epub 2019 Aug 26. J Med Genet. 2019. PMID: 31451536 Free PMC article.
185 results