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
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
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
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
Nature Genetics
Stolk, Lisette L; Perry, John R B JR; Chasman, Daniel I DI; He, Chunyan C; Mangino, Massimo M; Sulem, Patrick P; Barbalic, Maja M; Broer, Linda L; Byrne, Enda M EM; Ernst, Florian F; Esko, Tõnu T; Franceschini, Nora N; Gudbjartsson, Daniel F DF; Hottenga, Jouke-Jan JJ; Kraft, Peter P; McArdle, Patrick F PF; Porcu, Eleonora E; Shin, So-Youn SY; Smith, Albert V AV; van Wingerden, Sophie S; Zhai, Guangju G; Zhuang, Wei V WV; Albrecht, Eva E; Alizadeh, Behrooz Z BZ; Aspelund, Thor T; Bandinelli, Stefania S; Lauc, Lovorka Barac LB; Beckmann, Jacques S JS; Boban, Mladen M; Boerwinkle, Eric E; Broekmans, Frank J FJ; Burri, Andrea A; Campbell, Harry H; Chanock, Stephen J SJ; Chen, Constance C; Cornelis, Marilyn C MC; Corre, Tanguy T; Coviello, Andrea D AD; d'Adamo, Pio P; Davies, Gail G; de Faire, Ulf U; de Geus, Eco J C EJ; Deary, Ian J IJ; Dedoussis, George V Z GV; Deloukas, Panagiotis P; Ebrahim, Shah S; Eiriksdottir, Gudny G; Emilsson, Valur V; Eriksson, Johan G JG; Fauser, Bart C J M BC; Ferreli, Liana L; Ferrucci, Luigi L; Fischer, Krista K; Folsom, Aaron R AR; Garcia, Melissa E ME; Gasparini, Paolo P; Gieger, Christian C; Glazer, Nicole N; Grobbee, Diederick E DE; Hall, Per P; Haller, Toomas T; Hankinson, Susan E SE; Hass, Merli M; Hayward, Caroline C; Heath, Andrew C AC; Hofman, Albert A; Ingelsson, Erik E; Janssens, A Cecile J W AC; Johnson, Andrew D AD; Karasik, David D; Kardia, Sharon L R SL; Keyzer, Jules J; Kiel, Douglas P DP; Kolcic, Ivana I; Kutalik, Zoltán Z; Lahti, Jari J; Lai, Sandra S; Laisk, Triin T; Laven, Joop S E JS; Lawlor, Debbie A DA; Liu, Jianjun J; Lopez, Lorna M LM; Louwers, Yvonne V YV; Magnusson, Patrik K E PK; Marongiu, Mara M; Martin, Nicholas G NG; Klaric, Irena Martinovic IM; Masciullo, Corrado C; McKnight, Barbara B; Medland, Sarah E SE; Melzer, David D; Mooser, Vincent V; Navarro, Pau P; Newman, Anne B AB; Nyholt, Dale R DR; Onland-Moret, N Charlotte NC; Palotie, Aarno A; Paré, Guillaume G; Parker, Alex N AN; Pedersen, Nancy L NL; Peeters, Petra H M PH; Pistis, Giorgio G; Plump, Andrew S AS; Polasek, Ozren O; Pop, Victor J M VJ; Psaty, Bruce M BM; Räikkönen, Katri K; Rehnberg, Emil E; Rotter, Jerome I JI; Rudan, Igor I; Sala, Cinzia C; Salumets, Andres A; Scuteri, Angelo A; Singleton, Andrew A; Smith, Jennifer A JA; Snieder, Harold H; Soranzo, Nicole N; Stacey, Simon N SN; Starr, John M JM; Stathopoulou, Maria G MG; Stirrups, Kathleen K; Stolk, Ronald P RP; Styrkarsdottir, Unnur U; Sun, Yan V YV; Tenesa, Albert A; Thorand, Barbara B; Toniolo, Daniela D; Tryggvadottir, Laufey L; Tsui, Kim K; Ulivi, Sheila S; van Dam, Rob M RM; van der Schouw, Yvonne T YT; van Gils, Carla H CH; van Nierop, Peter P; Vink, Jacqueline M JM; Visscher, Peter M PM; Voorhuis, Marlies M; Waeber, Gérard G; Wallaschofski, Henri H; Wichmann, H Erich HE; Widen, Elisabeth E; Wijnands-van Gent, Colette J M CJ; Willemsen, Gonneke G; Wilson, James F JF; Wolffenbuttel, Bruce H R BH; Wright, Alan F AF; Yerges-Armstrong, Laura M LM; Zemunik, Tatijana T; Zgaga, Lina L; Zillikens, M Carola MC; Zygmunt, Marek M; , ; Arnold, Alice M AM; Boomsma, Dorret I DI; Buring, Julie E JE; Crisponi, Laura L; Demerath, Ellen W EW; Gudnason, Vilmundur V; Harris, Tamara B TB; Hu, Frank B FB; Hunter, David J DJ; Launer, Lenore J LJ; Metspalu, Andres A; Montgomery, Grant W GW; Oostra, Ben A BA; Ridker, Paul M PM; Sanna, Serena S; Schlessinger, David D; Spector, Tim D TD; Stefansson, Kari K; Streeten, Elizabeth A EA; Thorsteinsdottir, Unnur U; Uda, Manuela M; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Völzke, Henry H; Murray, Anna A; Murabito, Joanne M JM; Visser, Jenny A JA; Lunetta, Kathryn L KL
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
Nature Genetics
Mells, George F GF; Floyd, James A B JA; Morley, Katherine I KI; Cordell, Heather J HJ; Franklin, Christopher S CS; Shin, So-Youn SY; Heneghan, Michael A MA; Neuberger, James M JM; Donaldson, Peter T PT; Day, Darren B DB; Ducker, Samantha J SJ; Muriithi, Agnes W AW; Wheater, Elizabeth F EF; Hammond, Christopher J CJ; Dawwas, Muhammad F MF; , ; , ; Jones, David E DE; Peltonen, Leena L; Alexander, Graeme J GJ; Sandford, Richard N RN; Anderson, Carl A CA