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
Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.
Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.
Science Advances
Simcoe, Mark M; Valdes, Ana A; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Hemani, Gibran G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Vuckovic, Dragana D; Girotto, Giorgia G; Sala, Cinzia C; Catamo, Eulalia E; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex A; Wu, Wenting W; Kraft, Peter P; Hammond, Christopher J CJ; Shi, Yuan Y; Chen, Yan Y; Zeng, Changqing C; Klaver, Caroline C W CCW; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Han, Jiali J; Mackey, David A DA; Martin, Nicholas G NG; Cheng, Ching-Yu CY; , ; , ; Hinds, David A DA; Spector, Timothy D TD; Kayser, Manfred M; Hysi, Pirro G PG
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.
Science Advances
Simcoe, Mark M; Valdes, Ana A; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Hemani, Gibran G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Vuckovic, Dragana D; Girotto, Giorgia G; Sala, Cinzia C; Catamo, Eulalia E; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex A; Wu, Wenting W; Kraft, Peter P; Hammond, Christopher J CJ; Shi, Yuan Y; Chen, Yan Y; Zeng, Changqing C; Klaver, Caroline C W CCW; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Han, Jiali J; Mackey, David A DA; Martin, Nicholas G NG; Cheng, Ching-Yu CY; , ; , ; Hinds, David A DA; Spector, Timothy D TD; Kayser, Manfred M; Hysi, Pirro G PG
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