Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.
Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.
Esc Heart Failure
Kiefer, Katharina C KC; Cremer, Sebastian S; Pardali, Evangelia E; Assmus, Birgit B; Abou-El-Ardat, Khalil K; Kirschbaum, Klara K; Dorsheimer, Lena L; Rasper, Tina T; Berkowitsch, Alexander A; Serve, Hubert H; Dimmeler, Stefanie S; Zeiher, Andreas M AM; Rieger, Michael A MA
Whole-exome analysis of metaplastic breast carcinomas with extensive osseous differentiation.
Histopathology
Beca, Francisco F; Sebastiao, Ana P M APM; Pareja, Fresia F; Dessources, Kimberly K; Lozada, John R JR; Geyer, Felipe F; Selenica, Pier P; Zeizafoun, Nebras N; Wen, Hannah Y HY; Norton, Larry L; Brogi, Edi E; Weigelt, Britta B; Reis-Filho, Jorge S JS
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: DNMT3A: 499C>T; Arg167Trp
Genomic profiling of multiple sequentially acquired tumor metastatic sites from an "exceptional responder" lung adenocarcinoma patient reveals extensive genomic heterogeneity and novel somatic variants driving treatment response.
Cold Spring Harbor Molecular Case Studies
Biswas, Romi R; Gao, Shaojian S; Cultraro, Constance M CM; Maity, Tapan K TK; Venugopalan, Abhilash A; Abdullaev, Zied Z; Shaytan, Alexey K AK; Carter, Corey A CA; Thomas, Anish A; Rajan, Arun A; Song, Young Y; Pitts, Stephanie S; Chen, Kevin K; Bass, Sara S; Boland, Joseph J; Hanada, Ken-Ichi KI; Chen, Jinqiu J; Meltzer, Paul S PS; Panchenko, Anna R AR; Yang, James C JC; Pack, Svetlana S; Giaccone, Giuseppe G; Schrump, David S DS; Khan, Javed J; Guha, Udayan U