Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases.
Nature Genetics
de Klein, Niek N; Tsai, Ellen A EA; Vochteloo, Martijn M; Baird, Denis D; Huang, Yunfeng Y; Chen, Chia-Yen CY; van Dam, Sipko S; Oelen, Roy R; Deelen, Patrick P; Bakker, Olivier B OB; El Garwany, Omar O; Ouyang, Zhengyu Z; Marshall, Eric E EE; Zavodszky, Maria I MI; van Rheenen, Wouter W; Bakker, Mark K MK; Veldink, Jan J; Gaunt, Tom R TR; Runz, Heiko H; Franke, Lude L; Westra, Harm-Jan HJ
Cell type-specific histone acetylation profiling of Alzheimer's disease subjects and integration with genetics.
Frontiers In Molecular Neuroscience
Ramamurthy, Easwaran E; Welch, Gwyneth G; Cheng, Jemmie J; Yuan, Yixin Y; Gunsalus, Laura L; Bennett, David A DA; Tsai, Li-Huei LH; Pfenning, Andreas R AR
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
The Effect of Alzheimer's Disease-Associated Genetic Variants on Longevity.
Frontiers In Genetics
Tesi, Niccolò N; Hulsman, Marc M; van der Lee, Sven J SJ; Jansen, Iris E IE; Stringa, Najada N; van Schoor, Natasja M NM; Scheltens, Philip P; van der Flier, Wiesje M WM; Huisman, Martijn M; Reinders, Marcel J T MJT; Holstege, Henne H
A Non-APOE Polygenic Risk Score for Alzheimer's Disease Is Associated With Cerebrospinal Fluid Neurofilament Light in a Representative Sample of Cognitively Unimpaired 70-Year Olds.
The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
Skoog, Ingmar I; Kern, Silke S; Najar, Jenna J; Guerreiro, Rita R; Bras, Jose J; Waern, Margda M; Zetterberg, Henrik H; Blennow, Kaj K; Zettergren, Anna A
Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk.
Brain Communications
Salih, Dervis A DA; Bayram, Sevinc S; Guelfi, Sebastian S; Reynolds, Regina H RH; Shoai, Maryam M; Ryten, Mina M; Brenton, Jonathan W JW; Zhang, David D; Matarin, Mar M; Botia, Juan A JA; Shah, Runil R; Brookes, Keeley J KJ; Guetta-Baranes, Tamar T; Morgan, Kevin K; Bellou, Eftychia E; Cummings, Damian M DM; Escott-Price, Valentina V; Hardy, John J
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.
Nature Genetics
Kunkle, Brian W BW; Grenier-Boley, Benjamin B; Sims, Rebecca R; Bis, Joshua C JC; Damotte, Vincent V; Naj, Adam C AC; Boland, Anne A; Vronskaya, Maria M; van der Lee, Sven J SJ; Amlie-Wolf, Alexandre A; Bellenguez, Céline C; Frizatti, Aura A; Chouraki, Vincent V; Martin, Eden R ER; Sleegers, Kristel K; Badarinarayan, Nandini N; Jakobsdottir, Johanna J; Hamilton-Nelson, Kara L KL; Moreno-Grau, Sonia S; Olaso, Robert R; Raybould, Rachel R; Chen, Yuning Y; Kuzma, Amanda B AB; Hiltunen, Mikko M; Morgan, Taniesha T; Ahmad, Shahzad S; Vardarajan, Badri N BN; Epelbaum, Jacques J; Hoffmann, Per P; Boada, Merce M; Beecham, Gary W GW; Garnier, Jean-Guillaume JG; Harold, Denise D; Fitzpatrick, Annette L AL; Valladares, Otto O; Moutet, Marie-Laure ML; Gerrish, Amy A; Smith, Albert V AV; Qu, Liming L; Bacq, Delphine D; Denning, Nicola N; Jian, Xueqiu X; Zhao, Yi Y; Del Zompo, Maria M; Fox, Nick C NC; Choi, Seung-Hoan SH; Mateo, Ignacio I; Hughes, Joseph T JT; Adams, Hieab H HH; Malamon, John J; Sanchez-Garcia, Florentino F; 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Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score.
Plos Medicine
Desikan, Rahul S RS; Fan, Chun Chieh CC; Wang, Yunpeng Y; Schork, Andrew J AJ; Cabral, Howard J HJ; Cupples, L Adrienne LA; Thompson, Wesley K WK; Besser, Lilah L; Kukull, Walter A WA; Holland, Dominic D; Chen, Chi-Hua CH; Brewer, James B JB; Karow, David S DS; Kauppi, Karolina K; Witoelar, Aree A; Karch, Celeste M CM; Bonham, Luke W LW; Yokoyama, Jennifer S JS; Rosen, Howard J HJ; Miller, Bruce L BL; Dillon, William P WP; Wilson, David M DM; Hess, Christopher P CP; Pericak-Vance, Margaret M; Haines, Jonathan L JL; Farrer, Lindsay A LA; Mayeux, Richard R; Hardy, John J; Goate, Alison M AM; Hyman, Bradley T BT; Schellenberg, Gerard D GD; McEvoy, Linda K LK; Andreassen, Ole A OA; Dale, Anders M AM
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC