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 genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
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
GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal influence of schizophrenia.
Nature Neuroscience
Pasman, Joëlle A JA; Verweij, Karin J H KJH; Gerring, Zachary Z; Stringer, Sven S; Sanchez-Roige, Sandra S; Treur, Jorien L JL; Abdellaoui, Abdel A; Nivard, Michel G MG; Baselmans, Bart M L BML; Ong, Jue-Sheng JS; Ip, Hill F HF; van der Zee, Matthijs D MD; Bartels, Meike M; Day, Felix R FR; Fontanillas, Pierre P; Elson, Sarah L SL; , ; de Wit, Harriet H; Davis, Lea K LK; MacKillop, James J; , ; , ; Derringer, Jaime L JL; Branje, Susan J T SJT; Hartman, Catharina A CA; Heath, Andrew C AC; van Lier, Pol A C PAC; Madden, Pamela A F PAF; Mägi, Reedik R; Meeus, Wim W; Montgomery, Grant W GW; Oldehinkel, A J AJ; Pausova, Zdenka Z; Ramos-Quiroga, Josep A JA; Paus, Tomas T; Ribases, Marta M; Kaprio, Jaakko J; Boks, Marco P M MPM; Bell, Jordana T JT; Spector, Tim D TD; Gelernter, Joel J; Boomsma, Dorret I DI; Martin, Nicholas G NG; MacGregor, Stuart S; Perry, John R B JRB; Palmer, Abraham A AA; Posthuma, Danielle D; Munafò, Marcus R MR; Gillespie, Nathan A NA; Derks, Eske M EM; Vink, Jacqueline M JM
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Genome-Wide Association Approach Identified Novel Genetic Predictors of Heart Rate Response to β-Blockers.
Journal Of The American Heart Association
Shahin, Mohamed H MH; Conrado, Daniela J DJ; Gonzalez, Daniel D; Gong, Yan Y; Lobmeyer, Maximilian T MT; Beitelshees, Amber L AL; Boerwinkle, Eric E; Gums, John G JG; Chapman, Arlene A; Turner, Stephen T ST; Cooper-DeHoff, Rhonda M RM; Johnson, Julie A JA
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