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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. Among authors: jacquemont s. 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
Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research.
White LK, Crowley TB, Finucane B, McClellan EJ, Donoghue S, Garcia-Minaur S, Repetto GM, Fischer M, Jacquemont S, Gur RE, Maillard AM, Donald KA, Bassett AS, Swillen A, McDonald-McGinn DM. White LK, et al. Among authors: jacquemont s. Genes (Basel). 2023 Jan 7;14(1):169. doi: 10.3390/genes14010169. Genes (Basel). 2023. PMID: 36672911 Free PMC article.
Impact of Copy Number Variants and Polygenic Risk Scores on Psychopathology in the UK Biobank.
Mollon J, Schultz LM, Huguet G, Knowles EEM, Mathias SR, Rodrigue A, Alexander-Bloch A, Saci Z, Jean-Louis M, Kumar K, Douard E, Almasy L, Jacquemont S, Glahn DC. Mollon J, et al. Among authors: jacquemont s. Biol Psychiatry. 2023 Oct 1;94(7):591-600. doi: 10.1016/j.biopsych.2023.01.028. Epub 2023 Feb 9. Biol Psychiatry. 2023. PMID: 36764568
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.
Kopal J, Kumar K, Saltoun K, Modenato C, Moreau CA, Martin-Brevet S, Huguet G, Jean-Louis M, Martin CO, Saci Z, Younis N, Tamer P, Douard E, Maillard AM, Rodriguez-Herreros B, Pain A, Richetin S, Kushan L, Silva AI, van den Bree MBM, Linden DEJ, Owen MJ, Hall J, Lippé S, Draganski B, Sønderby IE, Andreassen OA, Glahn DC, Thompson PM, Bearden CE, Jacquemont S, Bzdok D. Kopal J, et al. Among authors: jacquemont s. Nat Hum Behav. 2023 Jun;7(6):1001-1017. doi: 10.1038/s41562-023-01541-9. Epub 2023 Mar 2. Nat Hum Behav. 2023. PMID: 36864136 Free PMC article.
Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.
Brownstein CA, Douard E, Haynes RL, Koh HY, Haghighi A, Keywan C, Martin B, Alexandrescu S, Haas EA, Vargas SO, Wojcik MH, Jacquemont S, Poduri AH, Goldstein RD, Holm IA. Brownstein CA, et al. Among authors: jacquemont s. Adv Genet (Hoboken). 2022 Nov 7;4(1):2200012. doi: 10.1002/ggn2.202200012. eCollection 2023 Mar. Adv Genet (Hoboken). 2022. PMID: 36910592 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, … See abstract for full author list ➔ Boen R, et al. Among authors: jacquemont s. 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.
Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome.
Aishworiya R, Chi MH, Zafarullah M, Mendoza G, Ponzini MD, Kim K, Biag HMB, Thurman AJ, Abbeduto L, Hessl D, Randol JL, Bolduc FV, Jacquemont S, Lippé S, Hagerman P, Hagerman R, Schneider A, Tassone F. Aishworiya R, et al. Among authors: jacquemont s. Cells. 2023 Jul 24;12(14):1920. doi: 10.3390/cells12141920. Cells. 2023. PMID: 37508583 Free PMC article.
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Lee S, Menzies L, Hay E, Ochoa E, Docquier F, Rodger F, Deshpande C, Foulds NC, Jacquemont S, Jizi K, Kiep H, Kraus A, Löhner K, Morrison PJ, Popp B, Richardson R, van Haeringen A, Martin E, Toribio A, Li F, Jones WD, Sansbury FH, Maher ER. Lee S, et al. Among authors: jacquemont s. Hum Mol Genet. 2023 Nov 3;32(22):3123-3134. doi: 10.1093/hmg/ddad079. Hum Mol Genet. 2023. PMID: 37166351 Free PMC article. Review.
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts.
Giannuzzi G, Chatron N, Mannik K, Auwerx C, Pradervand S, Willemin G, Hoekzema K, Nuttle X, Chrast J, Sadler MC, Porcu E; 16p11.2 Consortium; Herault Y, Isidor B, Gilbert-Dussardier B, Eichler EE, Kutalik Z, Reymond A. Giannuzzi G, et al. NPJ Genom Med. 2023 May 24;8(1):9. doi: 10.1038/s41525-023-00354-z. NPJ Genom Med. 2023. PMID: 37225732 Free PMC article. No abstract available.
Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability.
Schmilovich Z, Bourque VR, Douard E, Huguet G, Poulain C, Ross JP, Alipour P, Castonguay CÉ, Younis N, Jean-Louis M, Saci Z, Pausova Z, Paus T, Schuman G, Porteous D, Davies G, Redmond P, Harris SE, Deary IJ, Whalley H, Hayward C, Dion PA, Jacquemont S, Rouleau GA. Schmilovich Z, et al. Among authors: jacquemont s. Front Psychiatry. 2024 May 1;15:1369767. doi: 10.3389/fpsyt.2024.1369767. eCollection 2024. Front Psychiatry. 2024. PMID: 38751416 Free PMC article.
185 results