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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. Among authors: jacquemont s. 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.
Using rare genetic mutations to revisit structural brain asymmetry.
Kopal J, Kumar K, Shafighi K, Saltoun K, Modenato C, Moreau CA, Huguet G, Jean-Louis M, Martin CO, Saci Z, Younis N, Douard E, Jizi K, Beauchamp-Chatel A, 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, Zatorre R, Jacquemont S, Bzdok D. Kopal J, et al. Among authors: jacquemont s. Nat Commun. 2024 Mar 26;15(1):2639. doi: 10.1038/s41467-024-46784-w. Nat Commun. 2024. PMID: 38531844 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. Among authors: jacquemont s. 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.
Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders.
Shin D, Kim CN, Ross J, Hennick KM, Wu SR, Paranjape N, Leonard R, Wang JC, Keefe MG, Pavlovic BJ, Donohue KC, Moreau C, Wigdor EM, Larson HH, Allen DE, Cadwell CR, Bhaduri A, Popova G, Bearden CE, Pollen AA, Jacquemont S, Sanders SJ, Haussler D, Wiita AP, Frost NA, Sohal VS, Nowakowski TJ. Shin D, et al. Among authors: jacquemont s. Cell Stem Cell. 2024 Mar 7;31(3):421-432.e8. doi: 10.1016/j.stem.2024.01.010. Epub 2024 Feb 20. Cell Stem Cell. 2024. PMID: 38382530
Author Correction: Using rare genetic mutations to revisit structural brain asymmetry.
Kopal J, Kumar K, Shafighi K, Saltoun K, Modenato C, Moreau CA, Huguet G, Jean-Louis M, Martin CO, Saci Z, Younis N, Douard E, Jizi K, Beauchamp-Chatel A, 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, Zatorre R, Jacquemont S, Bzdok D. Kopal J, et al. Among authors: jacquemont s. Nat Commun. 2024 Apr 10;15(1):3098. doi: 10.1038/s41467-024-47545-5. Nat Commun. 2024. PMID: 38600109 Free PMC article. No abstract available.
Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion.
Maillard AM, Romascano D, Villalón-Reina JE, Moreau CA, Almeida Osório JM, Richetin S, Junod V, Yu P, Misic B, Thompson PM, Fornari E, Gygax MJ, Jacquemont S, Chabane N, Rodríguez-Herreros B. Maillard AM, et al. Among authors: jacquemont s. Transl Psychiatry. 2024 Feb 14;14(1):95. doi: 10.1038/s41398-024-02810-5. Transl Psychiatry. 2024. PMID: 38355713 Free PMC article.
Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and Duplications.
Gur R, Bearden C, Jacquemont S, Jizi K, Amelsvoort van T, van den Bree M, Vorstman J, Sebat J, Ruparel K, Gallagher R, Swillen A, McClellan E, White L, Crowley T, Giunta V, Kushan L, O'Hora K, Verbesselt J, Vandensande A, Vingerhoets C, van Haelst M, Hall J, Harwood J, Chawner S, Patel N, Palad K, Hong O, Guevara J, Martin CO, Bélanger AM, Scherer S, Bassett A, McDonald-McGinn D, Gur R. Gur R, et al. Among authors: jacquemont s. Res Sq [Preprint]. 2023 Dec 29:rs.3.rs-3393845. doi: 10.21203/rs.3.rs-3393845/v1. Res Sq. 2023. PMID: 38234766 Free PMC article. Preprint.
184 results