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
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia.
Blood
Tomasson, Michael H MH; Xiang, Zhifu Z; Walgren, Richard R; Zhao, Yu Y; Kasai, Yumi Y; Miner, Tracie T; Ries, Rhonda E RE; Lubman, Olga O; Fremont, Daved H DH; McLellan, Michael D MD; Payton, Jacqueline E JE; Westervelt, Peter P; DiPersio, John F JF; Link, Daniel C DC; Walter, Matthew J MJ; Graubert, Timothy A TA; Watson, Mark M; Baty, Jack J; Heath, Sharon S; Shannon, William D WD; Nagarajan, Rakesh R; Bloomfield, Clara D CD; Mardis, Elaine R ER; Wilson, Richard K RK; Ley, Timothy J TJ