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Page 1
Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries.
García-Marín LM, Campos AI, Diaz-Torres S, Rabinowitz JA, Ceja Z, Mitchell BL, Grasby KL, Thorp JG, Agartz I, Alhusaini S, Ames D, Amouyel P, Andreassen OA, Arfanakis K, Arias-Vasquez A, Armstrong NJ, Athanasiu L, Bastin ME, Beiser AS, Bennett DA, Bis JC, Boks MPM, Boomsma DI, Brodaty H, Brouwer RM, Buitelaar JK, Burkhardt R, Cahn W, Calhoun VD, Carmichael OT, Chakravarty M, Chen Q, Ching CRK, Cichon S, Crespo-Facorro B, Crivello F, Dale AM, Smith GD, de Geus EJC, De Jager PL, de Zubicaray GI, Debette S, DeCarli C, Depondt C, Desrivières S, Djurovic S, Ehrlich S, Erk S, Espeseth T, Fernández G, Filippi I, Fisher SE, Fleischman DA, Fletcher E, Fornage M, Forstner AJ, Francks C, Franke B, Ge T, Goldman AL, Grabe HJ, Green RC, Grimm O, Groenewold NA, Gruber O, Gudnason V, Håberg AK, Haukvik UK, Heinz A, Hibar DP, Hilal S, Himali JJ, Ho BC, Hoehn DF, Hoekstra PJ, Hofer E, Hoffmann W, Holmes AJ, Homuth G, Hosten N, Ikram MK, Ipser JC, Jack CR Jr, Jahanshad N, Jönsson EG, Kahn RS, Kanai R, Klein M, Knol MJ, Launer LJ, Lawrie SM, Hellard SL, Lee PH, Lemaître H, Li S, Liewald DCM, Lin H, Longstreth WT Jr, Lopez OL, Luciano M, Maillard P, Marquand AF, Martin NG, Martinot JL, Mather KA, Mat… See abstract for full author list ➔ García-Marín LM, et al. Among authors: van bokhoven h. Nat Genet. 2024 Nov;56(11):2333-2344. doi: 10.1038/s41588-024-01951-z. Epub 2024 Oct 21. Nat Genet. 2024. PMID: 39433889
Common genetic variants influence human subcortical brain structures.
Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivières S, Jahanshad N, Toro R, Wittfeld K, Abramovic L, Andersson M, Aribisala BS, Armstrong NJ, Bernard M, Bohlken MM, Boks MP, Bralten J, Brown AA, Chakravarty MM, Chen Q, Ching CR, Cuellar-Partida G, den Braber A, Giddaluru S, Goldman AL, Grimm O, Guadalupe T, Hass J, Woldehawariat G, Holmes AJ, Hoogman M, Janowitz D, Jia T, Kim S, Klein M, Kraemer B, Lee PH, Olde Loohuis LM, Luciano M, Macare C, Mather KA, Mattheisen M, Milaneschi Y, Nho K, Papmeyer M, Ramasamy A, Risacher SL, Roiz-Santiañez R, Rose EJ, Salami A, Sämann PG, Schmaal L, Schork AJ, Shin J, Strike LT, Teumer A, van Donkelaar MM, van Eijk KR, Walters RK, Westlye LT, Whelan CD, Winkler AM, Zwiers MP, Alhusaini S, Athanasiu L, Ehrlich S, Hakobjan MM, Hartberg CB, Haukvik UK, Heister AJ, Hoehn D, Kasperaviciute D, Liewald DC, Lopez LM, Makkinje RR, Matarin M, Naber MA, McKay DR, Needham M, Nugent AC, Pütz B, Royle NA, Shen L, Sprooten E, Trabzuni D, van der Marel SS, van Hulzen KJ, Walton E, Wolf C, Almasy L, Ames D, Arepalli S, Assareh AA, Bastin ME, Brodaty H, Bulayeva KB, Carless MA, Cichon S, Corvin A, Curran JE, Czisch M, de Zubica… See abstract for full author list ➔ Hibar DP, et al. Among authors: van eijk kr, van duijn cm, van der marel ss, van haren ne, van der lee sj, van der wee nj, van donkelaar mm, van tol mj, van t ent d, van der brug m, van bokhoven h, van hulzen kj. Nature. 2015 Apr 9;520(7546):224-9. doi: 10.1038/nature14101. Epub 2015 Jan 21. Nature. 2015. PMID: 25607358 Free PMC article.
Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept.
Franke B, Stein JL, Ripke S, Anttila V, Hibar DP, van Hulzen KJE, Arias-Vasquez A, Smoller JW, Nichols TE, Neale MC, McIntosh AM, Lee P, McMahon FJ, Meyer-Lindenberg A, Mattheisen M, Andreassen OA, Gruber O, Sachdev PS, Roiz-Santiañez R, Saykin AJ, Ehrlich S, Mather KA, Turner JA, Schwarz E, Thalamuthu A, Shugart YY, Ho YY, Martin NG, Wright MJ; Schizophrenia Working Group of the Psychiatric Genomics Consortium; ENIGMA Consortium; O'Donovan MC, Thompson PM, Neale BM, Medland SE, Sullivan PF. Franke B, et al. Nat Neurosci. 2016 Mar;19(3):420-431. doi: 10.1038/nn.4228. Epub 2016 Feb 1. Nat Neurosci. 2016. PMID: 26854805 Free PMC article.
Novel genetic loci underlying human intracranial volume identified through genome-wide association.
Adams HH, Hibar DP, Chouraki V, Stein JL, Nyquist PA, Rentería ME, Trompet S, Arias-Vasquez A, Seshadri S, Desrivières S, Beecham AH, Jahanshad N, Wittfeld K, Van der Lee SJ, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beiser A, Bernard M, Bis JC, Blanken LM, Blanton SH, Bohlken MM, Boks MP, Bralten J, Brickman AM, Carmichael O, Chakravarty MM, Chauhan G, Chen Q, Ching CR, Cuellar-Partida G, Braber AD, Doan NT, Ehrlich S, Filippi I, Ge T, Giddaluru S, Goldman AL, Gottesman RF, Greven CU, Grimm O, Griswold ME, Guadalupe T, Hass J, Haukvik UK, Hilal S, Hofer E, Hoehn D, Holmes AJ, Hoogman M, Janowitz D, Jia T, Kasperaviciute D, Kim S, Klein M, Kraemer B, Lee PH, Liao J, Liewald DC, Lopez LM, Luciano M, Macare C, Marquand A, Matarin M, Mather KA, Mattheisen M, Mazoyer B, McKay DR, McWhirter R, Milaneschi Y, Mirza-Schreiber N, Muetzel RL, Maniega SM, Nho K, Nugent AC, Loohuis LM, Oosterlaan J, Papmeyer M, Pappa I, Pirpamer L, Pudas S, Pütz B, Rajan KB, Ramasamy A, Richards JS, Risacher SL, Roiz-Santiañez R, Rommelse N, Rose EJ, Royle NA, Rundek T, Sämann PG, Satizabal CL, Schmaal L, Schork AJ, Shen L, Shin J, … See abstract for full author list ➔ Adams HH, et al. Among authors: van duijn cm, van der lee sj, van der wee nj, van erp tg, van bokhoven h, van der grond j, van eijk kr, van rooij d, van haren ne, van der lugt a, van donkelaar mm, van tol mj, van der brug m, van t ent d, van der meer d. Nat Neurosci. 2016 Dec;19(12):1569-1582. doi: 10.1038/nn.4398. Epub 2016 Oct 3. Nat Neurosci. 2016. PMID: 27694991 Free PMC article.
Genetic architecture of subcortical brain structures in 38,851 individuals.
Satizabal CL, Adams HHH, Hibar DP, White CC, Knol MJ, Stein JL, Scholz M, Sargurupremraj M, Jahanshad N, Roshchupkin GV, Smith AV, Bis JC, Jian X, Luciano M, Hofer E, Teumer A, van der Lee SJ, Yang J, Yanek LR, Lee TV, Li S, Hu Y, Koh JY, Eicher JD, Desrivières S, Arias-Vasquez A, Chauhan G, Athanasiu L, Rentería ME, Kim S, Hoehn D, Armstrong NJ, Chen Q, Holmes AJ, den Braber A, Kloszewska I, Andersson M, Espeseth T, Grimm O, Abramovic L, Alhusaini S, Milaneschi Y, Papmeyer M, Axelsson T, Ehrlich S, Roiz-Santiañez R, Kraemer B, Håberg AK, Jones HJ, Pike GB, Stein DJ, Stevens A, Bralten J, Vernooij MW, Harris TB, Filippi I, Witte AV, Guadalupe T, Wittfeld K, Mosley TH, Becker JT, Doan NT, Hagenaars SP, Saba Y, Cuellar-Partida G, Amin N, Hilal S, Nho K, Mirza-Schreiber N, Arfanakis K, Becker DM, Ames D, Goldman AL, Lee PH, Boomsma DI, Lovestone S, Giddaluru S, Le Hellard S, Mattheisen M, Bohlken MM, Kasperaviciute D, Schmaal L, Lawrie SM, Agartz I, Walton E, Tordesillas-Gutierrez D, Davies GE, Shin J, Ipser JC, Vinke LN, Hoogman M, Jia T, Burkhardt R, Klein M, Crivello F, Janowitz D, Carmichael O, Haukvik UK, Aribisala BS, Schmidt H, Strike LT, Cheng CY, Risacher SL, Pütz B, … See abstract for full author list ➔ Satizabal CL, et al. Among authors: van eijk kr, van duijn cm, van erp tgm, van rooij d, van der lee sj, van donkelaar mmj, van tol mj, van der wee nja, van t ent d, van bokhoven h, van der meer d, van haren nem. Nat Genet. 2019 Nov;51(11):1624-1636. doi: 10.1038/s41588-019-0511-y. Epub 2019 Oct 21. Nat Genet. 2019. PMID: 31636452 Free PMC article.
Novel genetic loci associated with hippocampal volume.
Hibar DP, Adams HHH, Jahanshad N, Chauhan G, Stein JL, Hofer E, Renteria ME, Bis JC, Arias-Vasquez A, Ikram MK, Desrivières S, Vernooij MW, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beecham AH, Beiser A, Bernard M, Blanton SH, Bohlken MM, Boks MP, Bralten J, Brickman AM, Carmichael O, Chakravarty MM, Chen Q, Ching CRK, Chouraki V, Cuellar-Partida G, Crivello F, Den Braber A, Doan NT, Ehrlich S, Giddaluru S, Goldman AL, Gottesman RF, Grimm O, Griswold ME, Guadalupe T, Gutman BA, Hass J, Haukvik UK, Hoehn D, Holmes AJ, Hoogman M, Janowitz D, Jia T, Jørgensen KN, Karbalai N, Kasperaviciute D, Kim S, Klein M, Kraemer B, Lee PH, Liewald DCM, Lopez LM, Luciano M, Macare C, Marquand AF, Matarin M, Mather KA, Mattheisen M, McKay DR, Milaneschi Y, Muñoz Maniega S, Nho K, Nugent AC, Nyquist P, Loohuis LMO, Oosterlaan J, Papmeyer M, Pirpamer L, Pütz B, Ramasamy A, Richards JS, Risacher SL, Roiz-Santiañez R, Rommelse N, Ropele S, Rose EJ, Royle NA, Rundek T, Sämann PG, Saremi A, Satizabal CL, Schmaal L, Schork AJ, Shen L, Shin J, Shumskaya E, Smith AV, Sprooten E, Strike LT, Teumer A, Tordesillas-Gutierrez D, Toro R, Trabz… See abstract for full author list ➔ Hibar DP, et al. Among authors: van duijn cm, van erp tgm, van der lee sj, van donkelaar mmj, van der wee nja, van bokhoven h, van der grond j, van eijk kr, van rooij d, van der lugt a, van tol mj, van der brug m, van t ent d, van der meer d, van haren nem. Nat Commun. 2017 Jan 18;8:13624. doi: 10.1038/ncomms13624. Nat Commun. 2017. PMID: 28098162 Free PMC article.
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
Cai DC, Fonteijn H, Guadalupe T, Zwiers M, Wittfeld K, Teumer A, Hoogman M, Arias-Vásquez A, Yang Y, Buitelaar J, Fernández G, Brunner HG, van Bokhoven H, Franke B, Hegenscheid K, Homuth G, Fisher SE, Grabe HJ, Francks C, Hagoort P. Cai DC, et al. Among authors: van bokhoven h. Genes Brain Behav. 2014 Sep;13(7):675-85. doi: 10.1111/gbb.12157. Epub 2014 Aug 29. Genes Brain Behav. 2014. PMID: 25130324 Free article.
Asymmetry within and around the human planum temporale is sexually dimorphic and influenced by genes involved in steroid hormone receptor activity.
Guadalupe T, Zwiers MP, Wittfeld K, Teumer A, Vasquez AA, Hoogman M, Hagoort P, Fernandez G, Buitelaar J, van Bokhoven H, Hegenscheid K, Völzke H, Franke B, Fisher SE, Grabe HJ, Francks C. Guadalupe T, et al. Among authors: van bokhoven h. Cortex. 2015 Jan;62:41-55. doi: 10.1016/j.cortex.2014.07.015. Epub 2014 Aug 7. Cortex. 2015. PMID: 25239853
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Tenney AP, et al. Among authors: van bokhoven h. Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386251 Free PMC article.
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H. Roscioli T, et al. Among authors: van reeuwijk j, van beusekom e, van bokhoven h, van den elzen c. Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253. Nat Genet. 2012. PMID: 22522421 Free PMC article.
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