The genetic determinants of recurrent somatic mutations in 43,693 blood genomes.
Science Advances
Weinstock, Joshua S JS; Laurie, Cecelia A CA; Broome, Jai G JG; Taylor, Kent D KD; Guo, Xiuqing X; Shuldiner, Alan R AR; O'Connell, Jeffrey R JR; Lewis, Joshua P JP; Boerwinkle, Eric E; Barnes, Kathleen C KC; Chami, Nathalie N; Kenny, Eimear E EE; Loos, Ruth J F RJF; Fornage, Myriam M; Redline, Susan S; Cade, Brian E BE; Gilliland, Frank D FD; Chen, Zhanghua Z; Gauderman, W James WJ; Kumar, Rajesh R; Grammer, Leslie L; Schleimer, Robert P RP; Psaty, Bruce M BM; Bis, Joshua C JC; Brody, Jennifer A JA; Silverman, Edwin K EK; Yun, Jeong H JH; Qiao, Dandi D; Weiss, Scott T ST; Lasky-Su, Jessica J; DeMeo, Dawn L DL; Palmer, Nicholette D ND; Freedman, Barry I BI; Bowden, Donald W DW; Cho, Michael H MH; Vasan, Ramachandran S RS; Johnson, Andrew D AD; Yanek, Lisa R LR; Becker, Lewis C LC; Kardia, Sharon S; He, Jiang J; Kaplan, Robert R; Heckbert, Susan R SR; Smith, Nicholas L NL; Wiggins, Kerri L KL; Arnett, Donna K DK; Irvin, Marguerite R MR; Tiwari, Hemant H; Correa, Adolfo A; Raffield, Laura M LM; Gao, Yan Y; de Andrade, Mariza M; Rotter, Jerome I JI; Rich, Stephen S SS; Manichaikul, Ani W AW; Konkle, Barbara A BA; Johnsen, Jill M JM; Wheeler, Marsha M MM; Custer, Brian S BS; Duggirala, Ravindranath R; Curran, Joanne E JE; Blangero, John J; Gui, Hongsheng H; Xiao, Shujie S; Williams, L Keoki LK; Meyers, Deborah A DA; Li, Xingnan X; Ortega, Victor V; McGarvey, Stephen S; Gu, C Charles CC; Chen, Yii-Der Ida YI; Lee, Wen-Jane WJ; Shoemaker, M Benjamin MB; Darbar, Dawood D; Roden, Dan D; Albert, Christine C; Kooperberg, Charles C; Desai, Pinkal P; Blackwell, Thomas W TW; Abecasis, Goncalo R GR; Smith, Albert V AV; Kang, Hyun M HM; Mathias, Rasika R; Natarajan, Pradeep P; Jaiswal, Siddhartha S; Reiner, Alexander P AP; Bick, Alexander G AG; ,
Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.
International Journal Of Cancer
Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U
Publication Date: 2022-07-15
Variant appearance in text: NSUN4: Thr51Ala; rs3737744
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29
Variant appearance in text: NSUN4: 151A>G; Thr51Ala; rs3737744
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: NSUN4: 151A>G; T51A; rs3737744
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: NSUN4: 151A>G; T51A; rs3737744
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.
Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20
Variant appearance in text: NSUN4: 151A>G; Thr51Ala; rs3737744
The role of myoglobin in epithelial cancers: Insights from transcriptomics.
International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02
Variant appearance in text: NSUN4: 151A>G; Thr51Ala
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: NSUN4: T51A; rs3737744
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: NSUN4: T51A; rs3737744
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27
Variant appearance in text: NSUN4: 151A>G; rs3737744
Integrated genomic analyses of de novo pathways underlying atypical meningiomas.
Nature Communications
Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M
Publication Date: 2017-02-14
Variant appearance in text: NSUN4: 151A>G; Thr51Ala; rs3737744
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.
Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
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: NSUN4: T51A; rs3737744