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
Gene-Environment Interactions in Progressive Supranuclear Palsy.
Frontiers In Neurology
Litvan, Irene I; Proudfoot, James A JA; Martin, Eden R ER; Standaert, David D; Riley, David D; Hall, Deborah D; Marras, Connie C; Bayram, Ece E; Dubinsky, Richard M RM; Bordelon, Yvette Y; Reich, Stephen S; Shprecher, David D; Kluger, Benzi B; Cunningham, Christopher C; Schellenberg, Gerard D GD; Jankovic, Joseph J
Latent trait modeling of tau neuropathology in progressive supranuclear palsy.
Acta Neuropathologica
Kouri, Naomi N; Murray, Melissa E ME; Reddy, Joseph S JS; Serie, Daniel J DJ; Soto-Beasley, Alexandra A; Allen, Mariet M; Carrasquillo, Minerva M MM; Wang, Xue X; Castanedes, Monica Casey MC; Baker, Matthew C MC; Rademakers, Rosa R; Uitti, Ryan J RJ; Graff-Radford, Neill R NR; Wszolek, Zbigniew K ZK; Schellenberg, Gerard D GD; Crook, Julia E JE; Ertekin-Taner, Nilüfer N; Ross, Owen A OA; Dickson, Dennis W DW
Divergent brain gene expression patterns associate with distinct cell-specific tau neuropathology traits in progressive supranuclear palsy.
Acta Neuropathologica
Allen, Mariet M; Wang, Xue X; Serie, Daniel J DJ; Strickland, Samantha L SL; Burgess, Jeremy D JD; Koga, Shunsuke S; Younkin, Curtis S CS; Nguyen, Thuy T TT; Malphrus, Kimberly G KG; Lincoln, Sarah J SJ; Alamprese, Melissa M; Zhu, Kuixi K; Chang, Rui R; Carrasquillo, Minerva M MM; Kouri, Naomi N; Murray, Melissa E ME; Reddy, Joseph S JS; Funk, Cory C; Price, Nathan D ND; Golde, Todd E TE; Younkin, Steven G SG; Asmann, Yan W YW; Crook, Julia E JE; Dickson, Dennis W DW; Ertekin-Taner, Nilüfer N
Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype.
Annals Of Neurology
Jabbari, Edwin E; Woodside, John J; Tan, Manuela M X MMX; Shoai, Maryam M; Pittman, Alan A; Ferrari, Raffaele R; Mok, Kin Y KY; Zhang, David D; Reynolds, Regina H RH; de Silva, Rohan R; Grimm, Max-Joseph MJ; Respondek, Gesine G; Müller, Ulrich U; Al-Sarraj, Safa S; Gentleman, Stephen M SM; Lees, Andrew J AJ; Warner, Thomas T TT; Hardy, John J; Revesz, Tamas T; Höglinger, Günter U GU; Holton, Janice L JL; Ryten, Mina M; Morris, Huw R HR
Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1.
Nature Communications
Weber, Axel A; Schwarz, Sigrid C SC; Tost, Jörg J; Trümbach, Dietrich D; Winter, Pia P; Busato, Florence F; Tacik, Pawel P; Windhorst, Anita C AC; Fagny, Maud M; Arzberger, Thomas T; McLean, Catriona C; van Swieten, John C JC; Schwarz, Johannes J; Vogt Weisenhorn, Daniela D; Wurst, Wolfgang W; Adhikary, Till T; Dickson, Dennis W DW; Höglinger, Günter U GU; Müller, Ulrich U
Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci.
Molecular Neurodegeneration
Sanchez-Contreras, Monica Y MY; Kouri, Naomi N; Cook, Casey N CN; Serie, Daniel J DJ; Heckman, Michael G MG; Finch, NiCole A NA; Caselli, Richard J RJ; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Graff-Radford, Neill N; Petrucelli, Leonard L; Wang, Li-San LS; Schellenberg, Gerard D GD; Dickson, Dennis W DW; Rademakers, Rosa R; Ross, Owen A OA
Genetic influences on cognition in progressive supranuclear palsy.
Movement Disorders : Official Journal Of The Movement Disorder Society
Gerstenecker, Adam A; Roberson, Erik D ED; Schellenberg, Gerard D GD; Standaert, David G DG; Shprecher, David R DR; Kluger, Benzi M BM; Litvan, Irene I
Susceptibility to neurofibrillary tangles: role of the PTPRD locus and limited pleiotropy with other neuropathologies.
Molecular Psychiatry
Chibnik, L B LB; White, C C CC; Mukherjee, S S; Raj, T T; Yu, L L; Larson, E B EB; Montine, T J TJ; Keene, C D CD; Sonnen, J J; Schneider, J A JA; Crane, P K PK; Shulman, J M JM; Bennett, D A DA; De Jager, P L PL
Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci.
Acta Neuropathologica
Allen, Mariet M; Burgess, Jeremy D JD; Ballard, Travis T; Serie, Daniel D; Wang, Xue X; Younkin, Curtis S CS; Sun, Zhifu Z; Kouri, Naomi N; Baheti, Saurabh S; Wang, Chen C; Carrasquillo, Minerva M MM; Nguyen, Thuy T; Lincoln, Sarah S; Malphrus, Kimberly K; Murray, Melissa M; Golde, Todd E TE; Price, Nathan D ND; Younkin, Steven G SG; Schellenberg, Gerard D GD; Asmann, Yan Y; Ordog, Tamas T; Crook, Julia J; Dickson, Dennis D; Ertekin-Taner, Nilüfer N
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
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.
Nature Genetics
Day, Felix R FR; Ruth, Katherine S KS; Thompson, Deborah J DJ; Lunetta, Kathryn L KL; Pervjakova, Natalia N; Chasman, Daniel I DI; Stolk, Lisette L; Finucane, Hilary K HK; Sulem, Patrick P; Bulik-Sullivan, Brendan B; Esko, Tõnu T; Johnson, Andrew D AD; Elks, Cathy E CE; Franceschini, Nora N; He, Chunyan C; Altmaier, Elisabeth E; Brody, Jennifer A JA; Franke, Lude L LL; Huffman, Jennifer E JE; Keller, Margaux F MF; McArdle, Patrick F PF; Nutile, Teresa T; Porcu, Eleonora E; Robino, Antonietta A; Rose, Lynda M LM; Schick, Ursula M UM; Smith, Jennifer A JA; Teumer, Alexander A; Traglia, Michela M; Vuckovic, Dragana D; Yao, Jie J; Zhao, Wei W; Albrecht, Eva E; Amin, Najaf N; Corre, Tanguy T; Hottenga, Jouke-Jan JJ; Mangino, Massimo M; Smith, Albert V AV; Tanaka, Toshiko T; Abecasis, Goncalo G; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antoniou, Antonis C AC; Arndt, Volker V; Arnold, Alice M AM; Barbieri, Caterina C; Beckmann, Matthias W MW; Beeghly-Fadiel, Alicia A; Benitez, Javier J; Bernstein, Leslie L; Bielinski, Suzette J SJ; Blomqvist, Carl C; Boerwinkle, Eric E; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Borresen-Dale, Anne-Lise AL; Boutin, Thibaud S TS; Brauch, Hiltrud H; Brenner, Hermann H; Brüning, Thomas T; Burwinkel, Barbara B; Campbell, Archie A; Campbell, Harry H; Chanock, Stephen J SJ; Chapman, J Ross JR; Chen, Yii-Der Ida YI; Chenevix-Trench, Georgia G; Couch, Fergus J FJ; Coviello, Andrea D AD; Cox, Angela A; Czene, Kamila K; Darabi, Hatef H; De Vivo, Immaculata I; Demerath, Ellen W EW; Dennis, Joe J; Devilee, Peter P; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Dunning, Alison M AM; Eicher, John D JD; Fasching, Peter A PA; Faul, Jessica D JD; Figueroa, Jonine J; Flesch-Janys, Dieter D; Gandin, Ilaria I; Garcia, Melissa E ME; García-Closas, Montserrat M; Giles, Graham G GG; Girotto, Giorgia G GG; Goldberg, Mark S MS; González-Neira, Anna A; Goodarzi, Mark O MO; Grove, Megan L ML; Gudbjartsson, Daniel F DF; Guénel, Pascal P; Guo, Xiuqing X; Haiman, Christopher A CA; Hall, Per P; Hamann, Ute U; Henderson, Brian E BE; Hocking, Lynne J LJ; Hofman, Albert A; Homuth, Georg G; Hooning, Maartje J MJ; Hopper, John L JL; Hu, Frank B FB; Huang, Jinyan J; Humphreys, Keith K; Hunter, David J DJ; Jakubowska, Anna A; Jones, Samuel E SE; Kabisch, Maria M; Karasik, David D; Knight, Julia A JA; Kolcic, Ivana I; Kooperberg, Charles C; Kosma, Veli-Matti VM; Kriebel, Jennifer J; Kristensen, Vessela V; Lambrechts, Diether D; Langenberg, Claudia C; Li, Jingmei J; Li, Xin X; Lindström, Sara S; Liu, Yongmei Y; Luan, Jian'an J; Lubinski, Jan J; Mägi, Reedik R; Mannermaa, Arto A; Manz, Judith J; Margolin, Sara S; Marten, Jonathan J; Martin, Nicholas G NG; Masciullo, Corrado C; Meindl, Alfons A; Michailidou, Kyriaki K; Mihailov, Evelin E; Milani, Lili L; Milne, Roger L RL; Müller-Nurasyid, Martina M; Nalls, Michael M; Neale, Ben M BM; Nevanlinna, Heli H; Neven, Patrick P; Newman, Anne B AB; Nordestgaard, Børge G BG; Olson, Janet E JE; Padmanabhan, Sandosh S; Peterlongo, Paolo P; Peters, Ulrike U; Petersmann, Astrid A; Peto, Julian J; Pharoah, Paul D P PDP; Pirastu, Nicola N NN; Pirie, Ailith A; Pistis, Giorgio G; Polasek, Ozren O; Porteous, David D; Psaty, Bruce M BM; Pylkäs, Katri K; Radice, Paolo P; Raffel, Leslie J LJ; Rivadeneira, Fernando F; Rudan, Igor I; Rudolph, Anja A; Ruggiero, Daniela D; Sala, Cinzia F CF; Sanna, Serena S; Sawyer, Elinor J EJ; Schlessinger, David D; Schmidt, Marjanka K MK; Schmidt, Frank F; Schmutzler, Rita K RK; Schoemaker, Minouk J MJ; Scott, Robert A RA; Seynaeve, Caroline M CM; Simard, Jacques J; Sorice, Rossella R; Southey, Melissa C MC; Stöckl, Doris D; Strauch, Konstantin K; Swerdlow, Anthony A; Taylor, Kent D KD; Thorsteinsdottir, Unnur U; Toland, Amanda E AE; Tomlinson, Ian I; Truong, Thérèse T; Tryggvadottir, Laufey L; Turner, Stephen T ST; Vozzi, Diego D; Wang, Qin Q; Wellons, Melissa M; Willemsen, Gonneke G; Wilson, James F JF; Winqvist, Robert R; Wolffenbuttel, Bruce B H R BBHR; Wright, Alan F AF; Yannoukakos, Drakoulis D; Zemunik, Tatijana T; Zheng, Wei W; Zygmunt, Marek M; Bergmann, Sven S; Boomsma, Dorret I DI; Buring, Julie E JE; Ferrucci, Luigi L; Montgomery, Grant W GW; Gudnason, Vilmundur V; Spector, Tim D TD; van Duijn, Cornelia M CM; Alizadeh, Behrooz Z BZ; Ciullo, Marina M; Crisponi, Laura L; Easton, Douglas F DF; Gasparini, Paolo P PP; Gieger, Christian C; Harris, Tamara B TB; Hayward, Caroline C; Kardia, Sharon L R SLR; Kraft, Peter P; McKnight, Barbara B; Metspalu, Andres A; Morrison, Alanna C AC; Reiner, Alex P AP; Ridker, Paul M PM; Rotter, Jerome I JI; Toniolo, Daniela D; Uitterlinden, André G AG; Ulivi, Sheila S; Völzke, Henry H; Wareham, Nicholas J NJ; Weir, David R DR; Yerges-Armstrong, Laura M LM; , ; , ; , ; , ; , ; , ; Price, Alkes L AL; Stefansson, Kari K; Visser, Jenny A JA; Ong, Ken K KK; Chang-Claude, Jenny J; Murabito, Joanne M JM; Perry, John R B JRB; Murray, Anna A
Genetic and neuroanatomic associations in sporadic frontotemporal lobar degeneration.
Neurobiology Of Aging
McMillan, Corey T CT; Toledo, Jon B JB; Avants, Brian B BB; Cook, Philip A PA; Wood, Elisabeth M EM; Suh, Eunran E; Irwin, David J DJ; Powers, John J; Olm, Christopher C; Elman, Lauren L; McCluskey, Leo L; Schellenberg, Gerard D GD; Lee, Virginia M-Y VM; Trojanowski, John Q JQ; Van Deerlin, Vivianna M VM; Grossman, Murray M
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.
Plos Genetics
Zou, Fanggeng F; Chai, High Seng HS; Younkin, Curtis S CS; Allen, Mariet M; Crook, Julia J; Pankratz, V Shane VS; Carrasquillo, Minerva M MM; Rowley, Christopher N CN; Nair, Asha A AA; Middha, Sumit S; Maharjan, Sooraj S; Nguyen, Thuy T; Ma, Li L; Malphrus, Kimberly G KG; Palusak, Ryan R; Lincoln, Sarah S; Bisceglio, Gina G; Georgescu, Constantin C; Kouri, Naomi N; Kolbert, Christopher P CP; Jen, Jin J; Haines, Jonathan L JL; Mayeux, Richard R; Pericak-Vance, Margaret A MA; Farrer, Lindsay A LA; Schellenberg, Gerard D GD; , ; Petersen, Ronald C RC; Graff-Radford, Neill R NR; Dickson, Dennis W DW; Younkin, Steven G SG; Ertekin-Taner, Nilüfer N
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Nature Genetics
Höglinger, Günter U GU; Melhem, Nadine M NM; Dickson, Dennis W DW; Sleiman, Patrick M A PM; Wang, Li-San LS; Klei, Lambertus L; Rademakers, Rosa R; de Silva, Rohan R; Litvan, Irene I; Riley, David E DE; van Swieten, John C JC; Heutink, Peter P; Wszolek, Zbigniew K ZK; Uitti, Ryan J RJ; Vandrovcova, Jana J; Hurtig, Howard I HI; Gross, Rachel G RG; Maetzler, Walter W; Goldwurm, Stefano S; Tolosa, Eduardo E; Borroni, Barbara B; Pastor, Pau P; , ; Cantwell, Laura B LB; Han, Mi Ryung MR; Dillman, Allissa A; van der Brug, Marcel P MP; Gibbs, J Raphael JR; Cookson, Mark R MR; Hernandez, Dena G DG; Singleton, Andrew B AB; Farrer, Matthew J MJ; Yu, Chang-En CE; Golbe, Lawrence I LI; Revesz, Tamas T; Hardy, John J; Lees, Andrew J AJ; Devlin, Bernie B; Hakonarson, Hakon H; Müller, Ulrich U; Schellenberg, Gerard D GD