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Page 1
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, Walley NM, Nicoletti P, Ge D, Catarino CB, Duncan JS, Kasperaviciūte D, Tate SK, Caboclo LO, Sander JW, Clayton L, Linney KN, Shianna KV, Gumbs CE, Smith J, Cronin KD, Maia JM, Doherty CP, Pandolfo M, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Kälviäinen R, Eriksson K, Kantanen AM, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Wieser HG, Zumsteg D, Ortega M, Wood NW, Huxley-Jones J, Mikati M, Gallentine WB, Husain AM, Buckley PG, Stallings RL, Podgoreanu MV, Delanty N, Sisodiya SM, Goldstein DB. Heinzen EL, et al. Among authors: matthews pm. Am J Hum Genet. 2010 May 14;86(5):707-18. doi: 10.1016/j.ajhg.2010.03.018. Epub 2010 Apr 15. Am J Hum Genet. 2010. PMID: 20398883 Free PMC article.
Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.
Tadros R, Zheng SL, Grace C, Jordà P, Francis C, Jurgens SJ, Thomson KL, Harper AR, Ormondroyd E, West DM, Xu X, Theotokis PI, Buchan RJ, McGurk KA, Mazzarotto F, Boschi B, Pelo E, Lee M, Noseda M, Varnava A, Vermeer AM, Walsh R, Amin AS, van Slegtenhorst MA, Roslin N, Strug LJ, Salvi E, Lanzani C, de Marvao A; Hypergenes InterOmics Collaborators; Roberts JD, Tremblay-Gravel M, Giraldeau G, Cadrin-Tourigny J, L'Allier PL, Garceau P, Talajic M, Pinto YM, Rakowski H, Pantazis A, Baksi J, Halliday BP, Prasad SK, Barton PJ, O'Regan DP, Cook SA, de Boer RA, Christiaans I, Michels M, Kramer CM, Ho CY, Neubauer S; HCMR Investigators; Matthews PM, Wilde AA, Tardif JC, Olivotto I, Adler A, Goel A, Ware JS, Bezzina CR, Watkins H. Tadros R, et al. Among authors: matthews pm. medRxiv [Preprint]. 2023 Feb 6:2023.01.28.23285147. doi: 10.1101/2023.01.28.23285147. medRxiv. 2023. PMID: 36778260 Free PMC article. Preprint.
Genetic Complexities of Cerebral Small Vessel Disease, Blood Pressure, and Dementia.
Sargurupremraj M, Soumaré A, Bis JC, Surakka I, Jürgenson T, Joly P, Knol MJ, Wang R, Yang Q, Satizabal CL, Gudjonsson A, Mishra A, Bouteloup V, Phuah CL, van Duijn CM, Cruchaga C, Dufouil C, Chêne G, Lopez OL, Psaty BM, Tzourio C, Amouyel P, Adams HH, Jacqmin-Gadda H, Ikram MA, Gudnason V, Milani L, Winsvold BS, Hveem K, Matthews PM, Longstreth WT, Seshadri S, Launer LJ, Debette S. Sargurupremraj M, et al. Among authors: matthews pm. JAMA Netw Open. 2024 May 1;7(5):e2412824. doi: 10.1001/jamanetworkopen.2024.12824. JAMA Netw Open. 2024. PMID: 38776079 Free PMC article.
Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes.
Haglund A, Zuber V, Abouzeid M, Yang Y, Ko JH, Wiemann L, Otero-Jimenez M, Muhammed L, Feleke R, Nott A, Mills JD, Laaniste L, Gveric DO, Clode D, Babtie AC, Pagni S, Bellampalli R, Somani A, McDade K, Anink JJ, Mesarosova L, Fancy N, Willumsen N, Smith A, Jackson J, Alegre-Abarrategui J, Aronica E, Matthews PM, Thom M, Sisodiya SM, Srivastava PK, Malhotra D, Bryois J, Bottolo L, Johnson MR. Haglund A, et al. Among authors: matthews pm. Nat Genet. 2025 Jan 10. doi: 10.1038/s41588-024-02050-9. Online ahead of print. Nat Genet. 2025. PMID: 39794547
Publisher Correction: Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience.
Jurgens SJ, Rämö JT, Kramarenko DR, Wijdeveld LFJM, Haas J, Chaffin MD, Garnier S, Gaziano L, Weng LC, Lipov A, Zheng SL, Henry A, Huffman JE, Challa S, Rühle F, Verdugo CD, Krijger Juárez C, Kany S, van Orsouw CA, Biddinger K, Poel E, Elliott AL, Wang X, Francis C, Ruan R, Koyama S, Beekman L, Zimmerman DS, Deleuze JF, Villard E, Trégouët DA, Isnard R; FinnGen; VA Million Veteran Program; HERMES Consortium; Boomsma DI, de Geus EJC, Tadros R, Pinto YM, Wilde AAM, Hottenga JJ, Sinisalo J, Niiranen T, Walsh R, Schmidt AF, Choi SH, Chang KM, Tsao PS, Matthews PM, Ware JS, Lumbers RT, van der Crabben S, Laukkanen J, Palotie A, Amin AS, Charron P, Meder B, Ellinor PT, Daly M, Aragam KG, Bezzina CR. Jurgens SJ, et al. Among authors: matthews pm. Nat Genet. 2024 Dec;56(12):2843. doi: 10.1038/s41588-024-02047-4. Nat Genet. 2024. PMID: 39633063 Free PMC article. No abstract available.
Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience.
Jurgens SJ, Rämö JT, Kramarenko DR, Wijdeveld LFJM, Haas J, Chaffin MD, Garnier S, Gaziano L, Weng LC, Lipov A, Zheng SL, Henry A, Huffman JE, Challa S, Rühle F, Verdugo CD, Krijger Juárez C, Kany S, van Orsouw CA, Biddinger K, Poel E, Elliott AL, Wang X, Francis C, Ruan R, Koyama S, Beekman L, Zimmerman DS, Deleuze JF, Villard E, Trégouët DA, Isnard R; FinnGen; VA Million Veteran Program; HERMES Consortium; Boomsma DI, de Geus EJC, Tadros R, Pinto YM, Wilde AAM, Hottenga JJ, Sinisalo J, Niiranen T, Walsh R, Schmidt AF, Choi SH, Chang KM, Tsao PS, Matthews PM, Ware JS, Lumbers RT, van der Crabben S, Laukkanen J, Palotie A, Amin AS, Charron P, Meder B, Ellinor PT, Daly M, Aragam KG, Bezzina CR. Jurgens SJ, et al. Among authors: matthews pm. Nat Genet. 2024 Dec;56(12):2636-2645. doi: 10.1038/s41588-024-01975-5. Epub 2024 Nov 21. Nat Genet. 2024. PMID: 39572784 Free PMC article.
Diffusion imaging genomics provides novel insight into early mechanisms of cerebral small vessel disease.
Le Grand Q, Tsuchida A, Koch A, Imtiaz MA, Aziz NA, Vigneron C, Zago L, Lathrop M, Dubrac A, Couffinhal T, Crivello F, Matthews PM, Mishra A, Breteler MMB, Tzourio C, Debette S. Le Grand Q, et al. Among authors: matthews pm. Mol Psychiatry. 2024 Nov;29(11):3567-3579. doi: 10.1038/s41380-024-02604-7. Epub 2024 May 29. Mol Psychiatry. 2024. PMID: 38811690 Free PMC article.
470 results