Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.
Heart (British Cardiac Society)
Debiec, Radoslaw Marek RM; Hamby, Stephen E SE; Jones, Peter D PD; Safwan, Kassem K; Sosin, Michael M; Hetherington, Simon Lee SL; Sprigings, David D; Sharman, David D; Lee, Kelvin K; Salahshouri, Pegah P; Wheeldon, Nigel N; Chukwuemeka, Andrew A; Boutziouka, Vasiliki V; Elamin, Mohamed M; Coolman, Sue S; Asiani, Manish M; Kharodia, Shireen S; Skinner, Gregory J GJ; Samani, Nilesh J NJ; Webb, Tom R TR; Bolger, Aidan P AP
Publication Date: 2022-06-24
Variant appearance in text: NOTCH1: 580A>C; Thr194Pro; rs770333242
The temporal mutational and immune tumour microenvironment remodelling of HER2-negative primary breast cancers.
Npj Breast Cancer
De Mattos-Arruda, Leticia L; Cortes, Javier J; Blanco-Heredia, Juan J; Tiezzi, Daniel G DG; Villacampa, Guillermo G; Gonçalves-Ribeiro, Samuel S; Paré, Laia L; Souza, Carla Anjos CA; Ortega, Vanesa V; Sammut, Stephen-John SJ; Cusco, Pol P; Fasani, Roberta R; Chin, Suet-Feung SF; Perez-Garcia, Jose J; Dienstmann, Rodrigo R; Nuciforo, Paolo P; Villagrasa, Patricia P; Rubio, Isabel T IT; Prat, Aleix A; Caldas, Carlos C
The mutational landscape of early- and typical-onset oral tongue squamous cell carcinoma.
Cancer
Campbell, Benjamin R BR; Chen, Zhishan Z; Faden, Daniel L DL; Agrawal, Nishant N; Li, Ryan J RJ; Hanna, Glenn J GJ; Iyer, N Gopalakrishna NG; Boot, Arnoud A; Rozen, Steven G SG; Vettore, Andre L AL; Panda, Binay B; Krishnan, Neeraja M NM; Pickering, Curtis R CR; Myers, Jeffrey N JN; Guo, Xingyi X; Lang Kuhs, Krystle A KA
A novel hotspot and rare somatic mutation p.A138V, at TP53 is associated with poor survival of pancreatic ductal and periampullary adenocarcinoma patients.
Tumor Variant Identification That Accounts for the Unique Molecular Landscape of Pediatric Malignancies.
Jnci Cancer Spectrum
Lorentzian, Amanda A; Biegel, Jaclyn A JA; Ostrow, D Gigi DG; Rolf, Nina N; Liu, Chi-Chao CC; Rassekh, S Rod SR; Deyell, Rebecca J RJ; Triche, Timothy T; Schultz, Kirk R KR; Rozmus, Jacob J; Reid, Gregor S D GSD; Lim, C James CJ; Lange, Philipp F PF; Maxwell, Christopher A CA
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
appreci8: a pipeline for precise variant calling integrating 8 tools.
Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15
Variant appearance in text: NOTCH1: 580A>C; Thr194Pro
Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.
Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Genomic profiling reveals mutational landscape in parathyroid carcinomas.
Jci Insight
Pandya, Chetanya C; Uzilov, Andrew V AV; Bellizzi, Justin J; Lau, Chun Yee CY; Moe, Aye S AS; Strahl, Maya M; Hamou, Wissam W; Newman, Leah C LC; Fink, Marc Y MY; Antipin, Yevgeniy Y; Yu, Willie W; Stevenson, Mark M; Cavaco, Branca M BM; Teh, Bin T BT; Thakker, Rajesh V RV; Morreau, Hans H; Schadt, Eric E EE; Sebra, Robert R; Li, Shuyu D SD; Arnold, Andrew A; Chen, Rong R
Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.
Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Bmc Medical Genetics
Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Oncotarget
Raaijmakers, Marieke I G MI; Widmer, Daniel S DS; Narechania, Apurva A; Eichhoff, Ossia O; Freiberger, Sandra N SN; Wenzina, Judith J; Cheng, Phil F PF; Mihic-Probst, Daniela D; Desalle, Rob R; Dummer, Reinhard R; Levesque, Mitchell P MP
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
Targeted or whole genome sequencing of formalin fixed tissue samples: potential applications in cancer genomics.
Oncotarget
Munchel, Sarah S; Hoang, Yen Y; Zhao, Yue Y; Cottrell, Joseph J; Klotzle, Brandy B; Godwin, Andrew K AK; Koestler, Devin D; Beyerlein, Peter P; Fan, Jian-Bing JB; Bibikova, Marina M; Chien, Jeremy J