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
C5 Variant rs10985126 is Associated with Mortality in Patients with Symptomatic Coronary Artery Disease.
Pharmacogenomics And Personalized Medicine
Henes, Jessica Kristin JK; Groga-Bada, Patrick P; Schaeffeler, Elke E; Winter, Stefan S; Hack, Luis L; Zdanyte, Monika M; Mueller, Karin K; Droppa, Michal M; Stimpfle, Fabian F; Gawaz, Meinrad M; Langer, Harald H; Schwab, Matthias M; Geisler, Tobias T; Rath, Dominik D
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
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
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.
Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.
Clinical Immunology (Orlando, Fla.)
Kienzler, Anne-Kathrin AK; van Schouwenburg, Pauline A PA; Taylor, John J; Marwah, Ishita I; Sharma, Richa U RU; Noakes, Charlotte C; Thomson, Kate K; Sadler, Ross R; Segal, Shelley S; Ferry, Berne B; Taylor, Jenny C JC; Blair, Edward E; Chapel, Helen H; Patel, Smita Y SY
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
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
The complement component 5 gene and age-related macular degeneration.
Ophthalmology
Baas, Dominique C DC; Ho, Lintje L; Ennis, Sarah S; Merriam, Joanna E JE; Tanck, Michael W T MW; Uitterlinden, André G AG; de Jong, Paulus T V M PT; Cree, Angela J AJ; Griffiths, Helen L HL; Rivadeneira, Fernando F; Hofman, Albert A; van Duijn, Cornelia C; Smith, R Theodore RT; Barile, Gaetano R GR; Gorgels, Theo G M F TG; Vingerling, Johannes R JR; Klaver, Caroline C W CC; Lotery, Andrew J AJ; Allikmets, Rando R; Bergen, Arthur A B AA
A candidate gene approach identifies the TRAF1/C5 region as a risk factor for rheumatoid arthritis.
Plos Medicine
Kurreeman, Fina A S FA; Padyukov, Leonid L; Marques, Rute B RB; Schrodi, Steven J SJ; Seddighzadeh, Maria M; Stoeken-Rijsbergen, Gerrie G; van der Helm-van Mil, Annette H M AH; Allaart, Cornelia F CF; Verduyn, Willem W; Houwing-Duistermaat, Jeanine J; Alfredsson, Lars L; Begovich, Ann B AB; Klareskog, Lars L; Huizinga, Tom W J TW; Toes, Rene E M RE