Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.
Bmc Medical Genomics
Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.
Bmc Medical Genomics
López-Cortés, Andrés A; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Echeverría, Byron Albuja BA; Guerrero, Santiago S; Cabascango, Eliana E; Pérez-Villa, Andy A; Armendáriz-Castillo, Isaac I; García-Cárdenas, Jennyfer M JM; Yumiceba, Verónica V; Pérez-M, Gabriela G; Leone, Paola E PE; Paz-Y-Miño, César C
Publication Date: 2020-08-17
Variant appearance in text: KMT2C: 2578C>T; Pro860Ser
Cornelius, Albert A; Foley, Jessica J; Bond, Jeffrey J; Nagulapally, Abhinav B AB; Steinbrecher, Julie J; Hendricks, William P D WPD; Rich, Maria M; Yendrembam, Sangeeta S; Bergendahl, Genevieve G; Trent, Jeffrey M JM; Sholler, Giselle S GS
Publication Date: 2017
Variant appearance in text: KMT2C: P860S; rs112515611
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
Publication Date: 2016-12-22
Variant appearance in text: KMT2C: 2578C>T; P860S; rs112515611