Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: CFTR: L32M; rs776797377
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
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.
Plos One
Salinas, Danieli B DB; Sosnay, Patrick R PR; Azen, Colleen C; Young, Suzanne S; Raraigh, Karen S KS; Keens, Thomas G TG; Kharrazi, Martin M
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.
The Journal Of Molecular Diagnostics : Jmd
Prach, Lisa L; Koepke, Ruth R; Kharrazi, Martin M; Keiles, Steven S; Salinas, Danieli B DB; Reyes, Maria Carmen MC; Pian, Mark M; Opsimos, Harry H; Otsuka, Kimberly N KN; Hardy, Karen Ann KA; Milla, Carlos E CE; Zirbes, Jacquelyn M JM; Chipps, Bradley B; O'Bra, Susan S; Saeed, Muhammad M MM; Sudhakar, Reddivalam R; Lehto, Susan S; Nielson, Dennis D; Shay, Gregory F GF; Seastrand, Mary M; Jhawar, Sanjay S; Nickerson, Bruce B; Landon, Christopher C; Thompson, Ann A; Nussbaum, Eliezer E; Chin, Terry T; Wojtczak, Henry H; ,