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195 results

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Page 1
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Rots D, Choufani S, Faundes V, Dingemans AJM, Joss S, Foulds N, Jones EA, Stewart S, Vasudevan P, Dabir T, Park SM, Jewell R, Brown N, Pais L, Jacquemont S, Jizi K, Ravenswaaij-Arts CMAV, Kroes HY, Stumpel CTRM, Ockeloen CW, Diets IJ, Nizon M, Vincent M, Cogné B, Besnard T, Kambouris M, Anderson E, Zackai EH, McDougall C, Donoghue S, O'Donnell-Luria A, Valivullah Z, O'Leary M, Srivastava S, Byers H, Leslie N, Mazzola S, Tiller GE, Vera M, Shen JJ, Boles R, Jain V, Brischoux-Boucher E, Kinning E, Simpson BN, Giltay JC, Harris J, Keren B, Guimier A, Marijon P, Vries BBA, Motter CS, Mendelsohn BA, Coffino S, Gerkes EH, Afenjar A, Visconti P, Bacchelli E, Maestrini E, Delahaye-Duriez A, Gooch C, Hendriks Y, Adams H, Thauvin-Robinet C, Josephi-Taylor S, Bertoli M, Parker MJ, Rutten JW, Caluseriu O, Vernon HJ, Kaziyev J, Zhu J, Kremen J, Frazier Z, Osika H, Breault D, Nair S, Lewis SME, Ceroni F, Viggiano M, Posar A, Brittain H, Giovanna T, Giulia G, Quteineh L, Ha-Vinh Leuchter R, Zonneveld-Huijssoon E, Mellado C, Marey I, Coudert A, Aracena Alvarez MI, Kennis MGP, Bouman A, Roifman M, Amorós Rodríguez MI, Ortigoza-Escobar JD, Vernimmen V, Sinnema M, Pfundt R, Brunner HG, Visser… See abstract for full author list ➔ Rots D, et al. Among authors: jacquemont s. Am J Hum Genet. 2024 Aug 8;111(8):1626-1642. doi: 10.1016/j.ajhg.2024.06.009. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013459
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.
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.
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. Update in: Am J Psychiatry. 2023 Sep 1;180(9):685-698. doi: 10.1176/appi.ajp.20220304 PMID: 36865328 Free PMC article. Updated. Preprint.
Copy-number variants differ in frequency across genetic ancestry groups.
Schultz LM, Knighton A, Huguet G, Saci Z, Jean-Louis M, Mollon J, Knowles EEM, Glahn DC, Jacquemont S, Almasy L. Schultz LM, et al. Among authors: jacquemont s. HGG Adv. 2024 Oct 10;5(4):100340. doi: 10.1016/j.xhgg.2024.100340. Epub 2024 Aug 12. HGG Adv. 2024. PMID: 39138864 Free PMC article.
Specific EEG resting state biomarkers in FXS and ASD.
Proteau-Lemieux M, Knoth IS, Davoudi S, Martin CO, Bélanger AM, Fontaine V, Côté V, Agbogba K, Vachon K, Whitlock K, Biag HMB, Thurman AJ, Rosenfelt C, Tassone F, Frei J, Capano L, Abbeduto L, Jacquemont S, Hessl D, Hagerman RJ, Schneider A, Bolduc F, Anagnostou E, Lippe S. Proteau-Lemieux M, et al. Among authors: jacquemont s. J Neurodev Disord. 2024 Sep 9;16(1):53. doi: 10.1186/s11689-024-09570-9. J Neurodev Disord. 2024. PMID: 39251926 Free PMC article.
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
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.
Longitudinal follow-up of metformin treatment in Fragile X Syndrome.
Seng P, Montanaro FAM, Biag HMB, Salcedo-Arellano MJ, Kim K, Ponzini MD, Tassone F, Schneider A, Abbeduto L, Thurman AJ, Hessl D, Bolduc FV, Jacquemont S, Lippé S, Hagerman RJ. Seng P, et al. Among authors: jacquemont s. Front Psychol. 2024 Jun 13;15:1305597. doi: 10.3389/fpsyg.2024.1305597. eCollection 2024. Front Psychol. 2024. PMID: 38939222 Free PMC article.
195 results