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
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
Weak Association Between Genetic Markers of Hyperuricemia and Cardiorenal Outcomes: Insights From the STANISLAS Study Cohort With a 20-Year Follow-Up.
Journal Of The American Heart Association
Kanbay, Mehmet M; Xhaard, Constance C; Le Floch, Edith E; Dandine-Roulland, Claire C; Girerd, Nicolas N; Ferreira, João Pedro JP; Boivin, Jean-Marc JM; Wagner, Sandra S; Bacq-Daian, Delphine D; Deleuze, Jean-François JF; Zannad, Faiez F; Rossignol, Patrick P
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
Publication Date: 2021-01-08
Variant appearance in text: SLC2A9: L189L; rs13125646
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
Tin, Adrienne A; Li, Yong Y; Brody, Jennifer A JA; Nutile, Teresa T; Chu, Audrey Y AY; Huffman, Jennifer E JE; Yang, Qiong Q; Chen, Ming-Huei MH; Robinson-Cohen, Cassianne C; Macé, Aurélien A; Liu, Jun J; Demirkan, Ayşe A; Sorice, Rossella R; Sedaghat, Sanaz S; Swen, Melody M; Yu, Bing B; Ghasemi, Sahar S; Teumer, Alexanda A; Vollenweider, Peter P; Ciullo, Marina M; Li, Meng M; Uitterlinden, André G AG; Kraaij, Robert R; Amin, Najaf N; van Rooij, Jeroen J; Kutalik, Zoltán Z; Dehghan, Abbas A; McKnight, Barbara B; van Duijn, Cornelia M CM; Morrison, Alanna A; Psaty, Bruce M BM; Boerwinkle, Eric E; Fox, Caroline S CS; Woodward, Owen M OM; Köttgen, Anna A
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.
Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children.
Obesity (Silver Spring, Md.)
Sabo, Aniko A; Mishra, Pamela P; Dugan-Perez, Shannon S; Voruganti, V Saroja VS; Kent, Jack W JW; Kalra, Divya D; Cole, Shelley A SA; Comuzzie, Anthony G AG; Muzny, Donna M DM; Gibbs, Richard A RA; Butte, Nancy F NF
Analysis of ABCG2 and other urate transporters in uric acid homeostasis in chronic kidney disease: potential role of remote sensing and signaling.
Clinical Kidney Journal
Bhatnagar, Vibha V; Richard, Erin L EL; Wu, Wei W; Nievergelt, Caroline M CM; Lipkowitz, Michael S MS; Jeff, Janina J; Maihofer, Adam X AX; Nigam, Sanjay K SK
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
Genetics of kidney disease and related cardiometabolic phenotypes in Zuni Indians: the Zuni Kidney Project.
Frontiers In Genetics
Laston, Sandra L SL; Voruganti, V Saroja VS; Haack, Karin K; Shah, Vallabh O VO; Bobelu, Arlene A; Bobelu, Jeanette J; Ghahate, Donica D; Harford, Antonia M AM; Paine, Susan S SS; Tentori, Francesca F; Cole, Shelley A SA; MacCluer, Jean W JW; Comuzzie, Anthony G AG; Zager, Philip G PG
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