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ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries.
Thompson PM, Jahanshad N, Ching CRK, Salminen LE, Thomopoulos SI, Bright J, Baune BT, Bertolín S, Bralten J, Bruin WB, Bülow R, Chen J, Chye Y, Dannlowski U, de Kovel CGF, Donohoe G, Eyler LT, Faraone SV, Favre P, Filippi CA, Frodl T, Garijo D, Gil Y, Grabe HJ, Grasby KL, Hajek T, Han LKM, Hatton SN, Hilbert K, Ho TC, Holleran L, Homuth G, Hosten N, Houenou J, Ivanov I, Jia T, Kelly S, Klein M, Kwon JS, Laansma MA, Leerssen J, Lueken U, Nunes A, Neill JO, Opel N, Piras F, Piras F, Postema MC, Pozzi E, Shatokhina N, Soriano-Mas C, Spalletta G, Sun D, Teumer A, Tilot AK, Tozzi L, van der Merwe C, Van Someren EJW, van Wingen GA, Völzke H, Walton E, Wang L, Winkler AM, Wittfeld K, Wright MJ, Yun JY, Zhang G, Zhang-James Y, Adhikari BM, Agartz I, Aghajani M, Aleman A, Althoff RR, Altmann A, Andreassen OA, Baron DA, Bartnik-Olson BL, Marie Bas-Hoogendam J, Baskin-Sommers AR, Bearden CE, Berner LA, Boedhoe PSW, Brouwer RM, Buitelaar JK, Caeyenberghs K, Cecil CAM, Cohen RA, Cole JH, Conrod PJ, De Brito SA, de Zwarte SMC, Dennis EL, Desrivieres S, Dima D, Ehrlich S, Esopenko C, Fairchild G, Fisher SE, Fouche JP, Francks C, Frangou S, Franke B, Garavan HP, Glahn DC, Groenewold NA, Gurholt T… See abstract for full author list ➔ Thompson PM, et al. Transl Psychiatry. 2020 Mar 20;10(1):100. doi: 10.1038/s41398-020-0705-1. Transl Psychiatry. 2020. PMID: 32198361 Free PMC article. Review.
An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs.
Cordell HJ, Fryett JJ, Ueno K, Darlay R, Aiba Y, Hitomi Y, Kawashima M, Nishida N, Khor SS, Gervais O, Kawai Y, Nagasaki M, Tokunaga K, Tang R, Shi Y, Li Z, Juran BD, Atkinson EJ, Gerussi A, Carbone M, Asselta R, Cheung A, de Andrade M, Baras A, Horowitz J, Ferreira MAR, Sun D, Jones DE, Flack S, Spicer A, Mulcahy VL, Byan J, Han Y, Sandford RN, Lazaridis KN, Amos CI, Hirschfield GM, Seldin MF, Invernizzi P, Siminovitch KA, Ma X, Nakamura M, Mells GF; PBC Consortia; Canadian PBC Consortium; Chinese PBC Consortium; Italian PBC Study Group; Japan-PBC-GWAS Consortium; US PBC Consortium; UK-PBC Consortium. Cordell HJ, et al. J Hepatol. 2021 Sep;75(3):572-581. doi: 10.1016/j.jhep.2021.04.055. Epub 2021 May 23. J Hepatol. 2021. PMID: 34033851 Free PMC article.
Genetic variants associated with longitudinal changes in brain structure across the lifespan.
Brouwer RM, Klein M, Grasby KL, Schnack HG, Jahanshad N, Teeuw J, Thomopoulos SI, Sprooten E, Franz CE, Gogtay N, Kremen WS, Panizzon MS, Olde Loohuis LM, Whelan CD, Aghajani M, Alloza C, Alnæs D, Artiges E, Ayesa-Arriola R, Barker GJ, Bastin ME, Blok E, Bøen E, Breukelaar IA, Bright JK, Buimer EEL, Bülow R, Cannon DM, Ciufolini S, Crossley NA, Damatac CG, Dazzan P, de Mol CL, de Zwarte SMC, Desrivières S, Díaz-Caneja CM, Doan NT, Dohm K, Fröhner JH, Goltermann J, Grigis A, Grotegerd D, Han LKM, Harris MA, Hartman CA, Heany SJ, Heindel W, Heslenfeld DJ, Hohmann S, Ittermann B, Jansen PR, Janssen J, Jia T, Jiang J, Jockwitz C, Karali T, Keeser D, Koevoets MGJC, Lenroot RK, Malchow B, Mandl RCW, Medel V, Meinert S, Morgan CA, Mühleisen TW, Nabulsi L, Opel N, de la Foz VO, Overs BJ, Paillère Martinot ML, Redlich R, Marques TR, Repple J, Roberts G, Roshchupkin GV, Setiaman N, Shumskaya E, Stein F, Sudre G, Takahashi S, Thalamuthu A, Tordesillas-Gutiérrez D, van der Lugt A, van Haren NEM, Wardlaw JM, Wen W, Westeneng HJ, Wittfeld K, Zhu AH, Zugman A, Armstrong NJ, Bonfiglio G, Bralten J, Dalvie S, Davies G, Di Forti M, Ding L, Donohoe G, Forstner AJ, Gonzalez-Peñas J, Guimaraes JPOFT, … See abstract for full author list ➔ Brouwer RM, et al. Nat Neurosci. 2022 Apr;25(4):421-432. doi: 10.1038/s41593-022-01042-4. Epub 2022 Apr 5. Nat Neurosci. 2022. PMID: 35383335 Free PMC article.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche D, Rube… See abstract for full author list ➔ Chen Y, et al. Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. Nature. 2024. PMID: 38991538 Free PMC article.
Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort.
Wong K, Pitcher D, Braddon F, Downward L, Steenkamp R, Annear N, Barratt J, Bingham C, Chrysochou C, Coward RJ, Game D, Griffin S, Hall M, Johnson S, Kanigicherla D, Karet Frankl F, Kavanagh D, Kerecuk L, Maher ER, Moochhala S, Pinney J, Sayer JA, Simms R, Sinha S, Srivastava S, Tam FWK, Turner AN, Walsh SB, Waters A, Wilson P, Wong E, Taylor CM, Nitsch D, Saleem M, Bockenhauer D, Bramham K, Gale DP; RaDaR consortium. Wong K, et al. Lancet. 2024 Mar 30;403(10433):1279-1289. doi: 10.1016/S0140-6736(23)02843-X. Epub 2024 Mar 13. Lancet. 2024. PMID: 38492578 Free article.
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis.
Asselta R, Paraboschi EM, Gerussi A, Cordell HJ, Mells GF, Sandford RN, Jones DE, Nakamura M, Ueno K, Hitomi Y, Kawashima M, Nishida N, Tokunaga K, Nagasaki M, Tanaka A, Tang R, Li Z, Shi Y, Liu X, Xiong M, Hirschfield G, Siminovitch KA; Canadian-US PBC Consortium; Italian PBC Genetics Study Group; UK-PBC Consortium; Japan PBC-GWAS Consortium; Carbone M, Cardamone G, Duga S, Gershwin ME, Seldin MF, Invernizzi P. Asselta R, et al. Gastroenterology. 2021 Jun;160(7):2483-2495.e26. doi: 10.1053/j.gastro.2021.02.061. Epub 2021 Mar 4. Gastroenterology. 2021. PMID: 33675743 Free PMC article.
Experience of a systematic approach to care and prevention of fragility fractures in New Zealand.
Gill CE, Mitchell PJ, Clark J, Cornish J, Fergusson P, Gilchrist N, Hayman L, Hornblow S, Kim D, Mackenzie D, Milsom S, von Tunzelmann A, Binns E, Fergusson K, Fleming S, Hurring S, Lilley R, Miller C, Navarre P, Pettett A, Sankaran S, Seow MY, Sincock J, Ward N, Wright M, Close JCT, Harris IA, Armstrong E, Hallen J, Hikaka J, Kerse N, Vujnovich A, Ganda K, Seibel MJ, Jackson T, Kennedy P, Malpas K, Dann L, Shuker C, Dunne C, Wood P, Magaziner J, Marsh D, Tabu I, Cooper C, Halbout P, Javaid MK, Åkesson K, Mlotek AS, Brûlé-Champagne E, Harris R. Gill CE, et al. Arch Osteoporos. 2022 Aug 2;17(1):108. doi: 10.1007/s11657-022-01138-1. Arch Osteoporos. 2022. PMID: 35917039 Free PMC article. Review.
SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility.
Silvennoinen K, Gawel K, Tsortouktzidis D, Pitsch J, Alhusaini S, van Loo KMJ, Picardo R, Michalak Z, Pagni S, Martins Custodio H, Mills J, Whelan CD, de Zubicaray GI, McMahon KL, van der Ent W, Kirstein-Smardzewska KJ, Tiraboschi E, Mudge JM, Frankish A, Thom M, Wright MJ, Thompson PM, Schoch S, Becker AJ, Esguerra CV, Sisodiya SM. Silvennoinen K, et al. Acta Neuropathol. 2022 Jul;144(1):107-127. doi: 10.1007/s00401-022-02429-0. Epub 2022 May 12. Acta Neuropathol. 2022. PMID: 35551471 Free PMC article.
16 results