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
Genome-wide analysis identifies a novel LINC-PINT splice variant associated with vascular amyloid pathology in Alzheimer's disease.
Acta Neuropathologica Communications
Reddy, Joseph S JS; Allen, Mariet M; Ho, Charlotte C G CCG; Oatman, Stephanie R SR; İş, Özkan Ö; Quicksall, Zachary S ZS; Wang, Xue X; Jin, Jiangli J; Patel, Tulsi A TA; Carnwath, Troy P TP; Nguyen, Thuy T TT; Malphrus, Kimberly G KG; Lincoln, Sarah J SJ; Carrasquillo, Minerva M MM; Crook, Julia E JE; Kanekiyo, Takahisa T; Murray, Melissa E ME; Bu, Guojun G; Dickson, Dennis W DW; Ertekin-Taner, Nilüfer N
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Non-coding variability at the APOE locus contributes to the Alzheimer's risk.
Nature Communications
Zhou, Xiaopu X; Chen, Yu Y; Mok, Kin Y KY; Kwok, Timothy C Y TCY; Mok, Vincent C T VCT; Guo, Qihao Q; Ip, Fanny C FC; Chen, Yuewen Y; Mullapudi, Nandita N; , ; Giusti-Rodríguez, Paola P; Sullivan, Patrick F PF; Hardy, John J; Fu, Amy K Y AKY; Li, Yun Y; Ip, Nancy Y NY
Biothiols and oxidative stress markers and polymorphisms of TOMM40 and APOC1 genes in Alzheimer's disease patients.
Oncotarget
Prendecki, Michal M; Florczak-Wyspianska, Jolanta J; Kowalska, Marta M; Ilkowski, Jan J; Grzelak, Teresa T; Bialas, Katarzyna K; Wiszniewska, Malgorzata M; Kozubski, Wojciech W; Dorszewska, Jolanta J
Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.
Journal Of Neurology, Neurosurgery, And Psychiatry
Ferrari, Raffaele R; Wang, Yunpeng Y; Vandrovcova, Jana J; Guelfi, Sebastian S; Witeolar, Aree A; Karch, Celeste M CM; Schork, Andrew J AJ; Fan, Chun C CC; Brewer, James B JB; , ; , ; , ; Momeni, Parastoo P; Schellenberg, Gerard D GD; Dillon, William P WP; Sugrue, Leo P LP; Hess, Christopher P CP; Yokoyama, Jennifer S JS; Bonham, Luke W LW; Rabinovici, Gil D GD; Miller, Bruce L BL; Andreassen, Ole A OA; Dale, Anders M AM; Hardy, John J; Desikan, Rahul S RS
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
A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease.
The Pharmacogenomics Journal
Roses, A D AD; Lutz, M W MW; Amrine-Madsen, H H; Saunders, A M AM; Crenshaw, D G DG; Sundseth, S S SS; Huentelman, M J MJ; Welsh-Bohmer, K A KA; Reiman, E M EM
APOE mRNA and protein expression in postmortem brain are modulated by an extended haplotype structure.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Bekris, Lynn M LM; Galloway, Nichole M NM; Montine, Thomas J TJ; Schellenberg, Gerard D GD; Yu, Chang-En CE
Multiple SNPs within and surrounding the apolipoprotein E gene influence cerebrospinal fluid apolipoprotein E protein levels.
Journal Of Alzheimer'S Disease : Jad
Bekris, Lynn M LM; Millard, Steven P SP; Galloway, Nichole M NM; Vuletic, Simona S; Albers, John J JJ; Li, Ge G; Galasko, Douglas R DR; DeCarli, Charles C; Farlow, Martin R MR; Clark, Chris M CM; Quinn, Joseph F JF; Kaye, Jeffrey A JA; Schellenberg, Gerard D GD; Tsuang, Debby D; Peskind, Elaine R ER; Yu, Chang-En CE