Somatic mutation detection and KRAS amplification in testicular germ cell tumors.
Frontiers In Oncology
Cabral, Eduardo R M ERM; Pacanhella, Marilia F MF; Lengert, Andre V H AVH; Dos Reis, Mariana B MB; Leal, Leticia F LF; de Lima, Marcos A MA; da Silva, Aline L V ALV; Pinto, Icaro A IA; Reis, Rui M RM; Pinto, Mariana T MT; Cárcano, Flavio M FM
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Computational Analysis of Deleterious SNPs in NRAS to Assess Their Potential Correlation With Carcinogenesis.
Frontiers In Genetics
Behairy, Mohammed Y MY; Soltan, Mohamed A MA; Adam, Mohamed S MS; Refaat, Ahmed M AM; Ezz, Ehab M EM; Albogami, Sarah S; Fayad, Eman E; Althobaiti, Fayez F; Gouda, Ahmed M AM; Sileem, Ashraf E AE; Elfaky, Mahmoud A MA; Darwish, Khaled M KM; Alaa Eldeen, Muhammad M
Publication Date: 2022
Variant appearance in text: NRAS: G60R; rs1557982817
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Molecular Profiling of Tumor Tissue and Plasma Cell-Free DNA from Patients with Non-Langerhans Cell Histiocytosis.
Molecular Cancer Therapeutics
Janku, Filip F; Diamond, Eli L EL; Goodman, Aaron M AM; Raghavan, Vaijayanthi Kandadai VK; Barnes, Tamara G TG; Kato, Shumei S; Abdel-Wahab, Omar O; Durham, Benjamin H BH; Meric-Bernstam, Funda F; Kurzrock, Razelle R
Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.
Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Phosphoproteomic Analyses of NRAS(G12) and NRAS(Q61) Mutant Melanocytes Reveal Increased CK2α Kinase Levels in NRAS(Q61) Mutant Cells.
The Journal Of Investigative Dermatology
Posch, Christian C; Sanlorenzo, Martina M; Vujic, Igor I; Oses-Prieto, Juan A JA; Cholewa, Brian D BD; Kim, Sarasa T ST; Ma, Jeffrey J; Lai, Kevin K; Zekhtser, Mitchell M; Esteve-Puig, Rosaura R; Green, Gary G; Chand, Shreya S; Burlingame, Alma L AL; Panzer-Grümayer, Renate R; Rappersberger, Klemens K; Ortiz-Urda, Susana S
Utility of different massive parallel sequencing platforms for mutation profiling in clinical samples and identification of pitfalls using FFPE tissue.
International Journal Of Molecular Medicine
Fassunke, Jana J; Haller, Florian F; Hebele, Simone S; Moskalev, Evgeny A EA; Penzel, Roland R; Pfarr, Nicole N; Merkelbach-Bruse, Sabine S; Endris, Volker V
Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.
Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Validation and utilisation of high-coverage next-generation sequencing to deliver the pharmacological audit trail.
British Journal Of Cancer
Ong, M M; Carreira, S S; Goodall, J J; Mateo, J J; Figueiredo, I I; Rodrigues, D N DN; Perkins, G G; Seed, G G; Yap, T A TA; Attard, G G; de Bono, J S JS
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.
Disease Models & Mechanisms
Runtuwene, Vincent V; van Eekelen, Mark M; Overvoorde, John J; Rehmann, Holger H; Yntema, Helger G HG; Nillesen, Willy M WM; van Haeringen, Arie A; van der Burgt, Ineke I; Burgering, Boudewijn B; den Hertog, Jeroen J