Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09
Variant appearance in text: KRAS: 458A>T; D153V; rs104894360
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: KRAS: 458A>T; Glu153Val
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Kenney-Jung, Daniel L DL; Rogers, Dante J DJ; Kroening, Samuel J SJ; Zatkalik, Abigail L AL; Whitmarsh, Ashley E AE; Roberts, Amy E AE; Zenker, Martin M; Gambardella, Maria Luigia ML; Contaldo, Ilaria I; Leoni, Chiara C; Onesimo, Roberta R; Zampino, Giuseppe G; Tartaglia, Marco M; Battaglia, Domenica I DI; Pierpont, Elizabeth I EI
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
Jama Pediatrics
, ; Krantz, Ian D ID; Medne, Livija L; Weatherly, Jamila M JM; Wild, K Taylor KT; Biswas, Sawona S; Devkota, Batsal B; Hartman, Tiffiney T; Brunelli, Luca L; Fishler, Kristen P KP; Abdul-Rahman, Omar O; Euteneuer, Joshua C JC; Hoover, Denise D; Dimmock, David D; Cleary, John J; Farnaes, Lauge L; Knight, Jason J; Schwarz, Adam J AJ; Vargas-Shiraishi, Ofelia M OM; Wigby, Kristin K; Zadeh, Neda N; Shinawi, Marwan M; Wambach, Jennifer A JA; Baldridge, Dustin D; Cole, F Sessions FS; Wegner, Daniel J DJ; Urraca, Nora N; Holtrop, Shannon S; Mostafavi, Roya R; Mroczkowski, Henry J HJ; Pivnick, Eniko K EK; Ward, Jewell C JC; Talati, Ajay A; Brown, Chester W CW; Belmont, John W JW; Ortega, Julia L JL; Robinson, Keisha D KD; Brocklehurst, W Tyler WT; Perry, Denise L DL; Ajay, Subramanian S SS; Hagelstrom, R Tanner RT; Bennett, Maren M; Rajan, Vani V; Taft, Ryan J RJ
Publication Date: 2021-12-01
Variant appearance in text: KRAS: 458A>T; Asp153Val
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant.
Journal Of Pediatric Genetics
Rodríguez, Fernando F; Vallejos, Carla C; Bolanos-Garcia, Víctor M VM; Ponce, Diana D; Unanue, Nancy N; Garay, Francisco F; Cassorla, Fernando F; Aracena, Mariana M
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.
Scientific Reports
Leung, Gordon K C GKC; Luk, H M HM; Tang, Vincent H M VHM; Gao, W W WW; Mak, Christopher C Y CCY; Yu, Mullin H C MHC; Wong, W L WL; Chu, Yoyo W Y YWY; Yang, W L WL; Wong, Wilfred H S WHS; Ma, Alvin C H ACH; Leung, Anskar Y H AYH; Jin, D Y DY; Chan, Kelvin Y K KYK; Allanson, Judith J; Lo, Ivan F M IFM; Chung, Brian H Y BHY
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Oncogenic and RASopathy-associated K-RAS mutations relieve membrane-dependent occlusion of the effector-binding site.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Mazhab-Jafari, Mohammad T MT; Marshall, Christopher B CB; Smith, Matthew J MJ; Gasmi-Seabrook, Geneviève M C GM; Stathopulos, Peter B PB; Inagaki, Fuyuhiko F; Kay, Lewis E LE; Neel, Benjamin G BG; Ikura, Mitsuhiko M
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
British Journal Of Cancer
Kratz, C P CP; Franke, L L; Peters, H H; Kohlschmidt, N N; Kazmierczak, B B; Finckh, U U; Bier, A A; Eichhorn, B B; Blank, C C; Kraus, C C; Kohlhase, J J; Pauli, S S; Wildhardt, G G; Kutsche, K K; Auber, B B; Christmann, A A; Bachmann, N N; Mitter, D D; Cremer, F W FW; Mayer, K K; Daumer-Haas, C C; Nevinny-Stickel-Hinzpeter, C C; Oeffner, F F; Schlüter, G G; Gencik, M M; Überlacker, B B; Lissewski, C C; Schanze, I I; Greene, M H MH; Spix, C C; Zenker, M M
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
Human Mutation
Gremer, Lothar L; Merbitz-Zahradnik, Torsten T; Dvorsky, Radovan R; Cirstea, Ion C IC; Kratz, Christian Peter CP; Zenker, Martin M; Wittinghofer, Alfred A; Ahmadian, Mohammad Reza MR
Tyner, Jeffrey W JW; Erickson, Heidi H; Deininger, Michael W N MW; Willis, Stephanie G SG; Eide, Christopher A CA; Levine, Ross L RL; Heinrich, Michael C MC; Gattermann, Norbert N; Gilliland, D Gary DG; Druker, Brian J BJ; Loriaux, Marc M MM
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Journal Of Medical Genetics
Zenker, Martin M; Lehmann, Katarina K; Schulz, Anna Leana AL; Barth, Helmut H; Hansmann, Dagmar D; Koenig, Rainer R; Korinthenberg, Rudolf R; Kreiss-Nachtsheim, Martina M; Meinecke, Peter P; Morlot, Susanne S; Mundlos, Stefan S; Quante, Anne S AS; Raskin, Salmo S; Schnabel, Dirk D; Wehner, Lars-Erik LE; Kratz, Christian P CP; Horn, Denise D; Kutsche, Kerstin K
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
American Journal Of Human Genetics
Carta, Claudio C; Pantaleoni, Francesca F; Bocchinfuso, Gianfranco G; Stella, Lorenzo L; Vasta, Isabella I; Sarkozy, Anna A; Digilio, Cristina C; Palleschi, Antonio A; Pizzuti, Antonio A; Grammatico, Paola P; Zampino, Giuseppe G; Dallapiccola, Bruno B; Gelb, Bruce D BD; Tartaglia, Marco M