Diagnostic value of partial exome sequencing in developmental disorders.
Plos One
Gieldon, Laura L; Mackenroth, Luisa L; Kahlert, Anne-Karin AK; Lemke, Johannes R JR; Porrmann, Joseph J; Schallner, Jens J; von der Hagen, Maja M; Markus, Susanne S; Weidensee, Sabine S; Novotna, Barbara B; Soerensen, Charlotte C; Klink, Barbara B; Wagner, Johannes J; Tzschach, Andreas A; Jahn, Arne A; Kuhlee, Franziska F; Hackmann, Karl K; Schrock, Evelin E; Di Donato, Nataliya N; Rump, Andreas A
Publication Date: 2018
Variant appearance in text: COL6A3: 9245C>G; Pro3082Arg
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
Publication Date: 2017-11-21
Variant appearance in text: COL6A3: 9245C>G; P3082R; rs182976977
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: COL6A3: 9245C>G; P3082R; rs182976977
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: COL6A3: 9245C>G; P3082R
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.
American Journal Of Human Genetics
Zech, Michael M; Lam, Daniel D DD; Francescatto, Ludmila L; Schormair, Barbara B; Salminen, Aaro V AV; Jochim, Angela A; Wieland, Thomas T; Lichtner, Peter P; Peters, Annette A; Gieger, Christian C; Lochmüller, Hanns H; Strom, Tim M TM; Haslinger, Bernhard B; Katsanis, Nicholas N; Winkelmann, Juliane J
Publication Date: 2015-06-04
Variant appearance in text: COL6A3: 9245C>G; Pro3082Arg; rs182976977