Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03
Variant appearance in text: CFTR: 1125A>C; Leu375Phe; rs73215912
Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.
Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Genophenotypic Analysis of Pediatric Patients With Acute Recurrent and Chronic Pancreatitis.
Pancreas
Palermo, Joseph J JJ; Lin, Tom K TK; Hornung, Lindsey L; Valencia, C Alexander CA; Mathur, Abhinav A; Jackson, Kimberly K; Fei, Lin L; Abu-El-Haija, Maisam M
A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.
The Journal Of Molecular Diagnostics : Jmd
Faà, Valeria V; Bettoli, Pietro Pellegrini PP; Demurtas, Maria M; Zanda, Maurizio M; Ferri, Vincenzina V; Cao, Antonio A; Rosatelli, Maria Cristina MC