Genetic variants influenced the risk of bleeding and pharmacodynamics of rivaroxaban in patients with nonvalvular atrial fibrillation: A multicentre prospective cohort study.
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
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
Publication Date: 2019-10-09
Variant appearance in text: CYP4V2: C282C; rs3736456
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
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.
Pharmacogenomics of hypertension: a genome‐wide, placebo‐controlled cross‐over study, using four classes of antihypertensive drugs.
Journal Of The American Heart Association
Hiltunen, Timo P TP; Donner, Kati M KM; Sarin, Antti-Pekka AP; Saarela, Janna J; Ripatti, Samuli S; Chapman, Arlene B AB; Gums, John G JG; Gong, Yan Y; Cooper-DeHoff, Rhonda M RM; Frau, Francesca F; Glorioso, Valeria V; Zaninello, Roberta R; Salvi, Erika E; Glorioso, Nicola N; Boerwinkle, Eric E; Turner, Stephen T ST; Johnson, Julie A JA; Kontula, Kimmo K KK
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: CYP4V2: C282C; rs3736456
A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder.
Molecular Psychiatry
Baum, A E AE; Akula, N N; Cabanero, M M; Cardona, I I; Corona, W W; Klemens, B B; Schulze, T G TG; Cichon, S S; Rietschel, M M; Nöthen, M M MM; Georgi, A A; Schumacher, J J; Schwarz, M M; Abou Jamra, R R; Höfels, S S; Propping, P P; Satagopan, J J; Detera-Wadleigh, S D SD; Hardy, J J; McMahon, F J FJ