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
Obesity gene NEGR1 associated with white matter integrity in healthy young adults.
Neuroimage
Dennis, Emily L EL; Jahanshad, Neda N; Braskie, Meredith N MN; Warstadt, Nicholus M NM; Hibar, Derrek P DP; Kohannim, Omid O; Nir, Talia M TM; McMahon, Katie L KL; de Zubicaray, Greig I GI; Montgomery, Grant W GW; Martin, Nicholas G NG; Toga, Arthur W AW; Wright, Margaret J MJ; Thompson, Paul M PM
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
Nature Genetics
Willer, Cristen J CJ; Speliotes, Elizabeth K EK; Loos, Ruth J F RJ; Li, Shengxu S; Lindgren, Cecilia M CM; Heid, Iris M IM; Berndt, Sonja I SI; Elliott, Amanda L AL; Jackson, Anne U AU; Lamina, Claudia C; Lettre, Guillaume G; Lim, Noha N; Lyon, Helen N HN; McCarroll, Steven A SA; Papadakis, Konstantinos K; Qi, Lu L; Randall, Joshua C JC; Roccasecca, Rosa Maria RM; Sanna, Serena S; Scheet, Paul P; Weedon, Michael N MN; Wheeler, Eleanor E; Zhao, Jing Hua JH; Jacobs, Leonie C LC; Prokopenko, Inga I; Soranzo, Nicole N; Tanaka, Toshiko T; Timpson, Nicholas J NJ; Almgren, Peter P; Bennett, Amanda A; Bergman, Richard N RN; Bingham, Sheila A SA; Bonnycastle, Lori L LL; Brown, Morris M; Burtt, Noël P NP; Chines, Peter P; Coin, Lachlan L; Collins, Francis S FS; Connell, John M JM; Cooper, Cyrus C; Smith, George Davey GD; Dennison, Elaine M EM; Deodhar, Parimal P; Elliott, Paul P; Erdos, Michael R MR; Estrada, Karol K; Evans, David M DM; Gianniny, Lauren L; Gieger, Christian C; Gillson, Christopher J CJ; Guiducci, Candace C; Hackett, Rachel R; Hadley, David D; Hall, Alistair S AS; Havulinna, Aki S AS; Hebebrand, Johannes J; Hofman, Albert A; Isomaa, Bo B; Jacobs, Kevin B KB; Johnson, Toby T; Jousilahti, Pekka P; Jovanovic, Zorica Z; Khaw, Kay-Tee KT; Kraft, Peter P; Kuokkanen, Mikko M; Kuusisto, Johanna J; Laitinen, Jaana J; Lakatta, Edward G EG; Luan, Jian'an J; Luben, Robert N RN; Mangino, Massimo M; McArdle, Wendy L WL; Meitinger, Thomas T; Mulas, Antonella A; Munroe, Patricia B PB; Narisu, Narisu N; Ness, Andrew R AR; Northstone, Kate K; O'Rahilly, Stephen S; Purmann, Carolin C; Rees, Matthew G MG; Ridderstråle, Martin M; Ring, Susan M SM; Rivadeneira, Fernando F; Ruokonen, Aimo A; Sandhu, Manjinder S MS; Saramies, Jouko J; Scott, Laura J LJ; Scuteri, Angelo A; Silander, Kaisa K; Sims, Matthew A MA; Song, Kijoung K; Stephens, Jonathan J; Stevens, Suzanne S; Stringham, Heather M HM; Tung, Y C Loraine YC; Valle, Timo T TT; Van Duijn, Cornelia M CM; Vimaleswaran, Karani S KS; Vollenweider, Peter P; Waeber, Gerard G; Wallace, Chris C; Watanabe, Richard M RM; Waterworth, Dawn M DM; Watkins, Nicholas N; , ; Witteman, Jacqueline C M JC; Zeggini, Eleftheria E; Zhai, Guangju G; Zillikens, M Carola MC; Altshuler, David D; Caulfield, Mark J MJ; Chanock, Stephen J SJ; Farooqi, I Sadaf IS; Ferrucci, Luigi L; Guralnik, Jack M JM; Hattersley, Andrew T AT; Hu, Frank B FB; Jarvelin, Marjo-Riitta MR; Laakso, Markku M; Mooser, Vincent V; Ong, Ken K KK; Ouwehand, Willem H WH; Salomaa, Veikko V; Samani, Nilesh J NJ; Spector, Timothy D TD; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Uda, Manuela M; Uitterlinden, André G AG; Wareham, Nicholas J NJ; Deloukas, Panagiotis P; Frayling, Timothy M TM; Groop, Leif C LC; Hayes, Richard B RB; Hunter, David J DJ; Mohlke, Karen L KL; Peltonen, Leena L; Schlessinger, David D; Strachan, David P DP; Wichmann, H-Erich HE; McCarthy, Mark I MI; Boehnke, Michael M; Barroso, Inês I; Abecasis, Gonçalo R GR; Hirschhorn, Joel N JN; ,