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; ,
Pharmacogenetics of taxane-induced neurotoxicity in breast cancer: Systematic review and meta-analysis.
Clinical And Translational Science
Guijosa, Alberto A; Freyria, Ana A; Espinosa-Fernandez, Jose Rodrigo JR; Estrada-Mena, Francisco J FJ; Armenta-Quiroga, Ana Sofía AS; Ortega-Treviño, Maria Fernanda MF; Catalán, Rodrigo R; Antonio-Aguirre, Bani B; Villarreal-Garza, Cynthia C; Perez-Ortiz, Andric C AC
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
A Prognostic and Carboplatin Response Predictive Model in Ovarian Cancer: A Mono-Institutional Retrospective Study Based on Clinics and Pharmacogenomics.
Biomedicines
Staropoli, Nicoletta N; Arbitrio, Mariamena M; Salvino, Angela A; Scionti, Francesca F; Ciliberto, Domenico D; Ingargiola, Rossana R; Labanca, Caterina C; Agapito, Giuseppe G; Iuliano, Eleonora E; Barbieri, Vito V; Cucè, Maria M; Zuccalà, Valeria V; Cannataro, Mario M; Tassone, Pierfrancesco P; Tagliaferri, Pierosandro P
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
Gene Variants Determine Placental Transfer of Perfluoroalkyl Substances (PFAS), Mercury (Hg) and Lead (Pb), and Birth Outcome: Findings From the UmMuKi Bratislava-Vienna Study.
Frontiers In Genetics
Gundacker, Claudia C; Graf-Rohrmeister, Klaudia K; Gencik, Martin M; Hengstschläger, Markus M; Holoman, Karol K; Rosa, Petra P; Kroismayr, Renate R; Offenthaler, Ivo I; Plichta, Veronika V; Reischer, Theresa T; Teufl, Isabella I; Raffesberg, Wolfgang W; Scharf, Sigrid S; Köhler-Vallant, Birgit B; Delissen, Zoja Z; Weiß, Stefan S; Uhl, Maria M
Role of Genetic Variation in ABC Transporters in Breast Cancer Prognosis and Therapy Response.
International Journal Of Molecular Sciences
Hlaváč, Viktor V; Václavíková, Radka R; Brynychová, Veronika V; Koževnikovová, Renata R; Kopečková, Katerina K; Vrána, David D; Gatěk, Jiří J; Souček, Pavel P
Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.
Clinical Pharmacokinetics
Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR
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
Targeted next generation sequencing as a tool for precision medicine.
Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.
Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
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.
Clinical validation of genetic variants associated with in vitro chemotherapy-related lymphoblastoid cell toxicity.
Oncotarget
Fasching, Peter A PA; Häberle, Lothar L; Rack, Brigitte B; Li, Liang L; Hein, Alexander A; Ekici, Arif B AB; Reis, Andre A; Lux, Michael P MP; Cunningham, Julie M JM; Ruebner, Matthias M; Jenkins, Gergory G; Fridley, Brooke B; Schneeweiss, Andreas A; Tesch, Hans H; Lichtenegger, Werner W; Fehm, Tanja T; Heinrich, Georg G; Rezai, Mahdi M; Beckmann, Matthias W MW; Janni, Wolfgang W; Weinshilboum, Richard M RM; Wang, Liewei L
Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma.
Oncotarget
Hegyi, Marta M; Arany, Adam A; Semsei, Agnes F AF; Csordas, Katalin K; Eipel, Oliver O; Gezsi, Andras A; Kutszegi, Nora N; Csoka, Monika M; Muller, Judit J; Erdelyi, Daniel J DJ; Antal, Peter P; Szalai, Csaba C; Kovacs, Gabor T GT