Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.
Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.
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.
Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.
Genome Medicine
Tsui, Dana W Y DWY; Cheng, Michael L ML; Shady, Maha M; Yang, Julie L JL; Stephens, Dennis D; Won, Helen H; Srinivasan, Preethi P; Huberman, Kety K; Meng, Fanli F; Jing, Xiaohong X; Patel, Juber J; Hasan, Maysun M; Johnson, Ian I; Gedvilaite, Erika E; Houck-Loomis, Brian B; Socci, Nicholas D ND; Selcuklu, S Duygu SD; Seshan, Venkatraman E VE; Zhang, Hongxin H; Chakravarty, Debyani D; Zehir, Ahmet A; Benayed, Ryma R; Arcila, Maria M; Ladanyi, Marc M; Funt, Samuel A SA; Feldman, Darren R DR; Li, Bob T BT; Razavi, Pedram P; Rosenberg, Jonathan J; Bajorin, Dean D; Iyer, Gopa G; Abida, Wassim W; Scher, Howard I HI; Rathkopf, Dana D; Viale, Agnes A; Berger, Michael F MF; Solit, David B DB
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
Human Mutation
MacKenzie, Katherine C KC; de Graaf, Bianca M BM; Syrimis, Andreas A; Zhao, Yuying Y; Brosens, Erwin E; Mancini, Grazia M S GMS; Schot, Rachel R; Halley, Dicky D; Wilke, Martina M; Vøllo, Arve A; Flinter, Frances F; Green, Andrew A; Mansour, Sahar S; Pilch, Jacek J; Stark, Zornitza Z; Zamba-Papanicolaou, Eleni E; Christophidou-Anastasiadou, Violetta V; Hofstra, Robert M W RMW; Jongbloed, Jan D H JDH; Nicolaou, Nayia N; Tanteles, George A GA; Brooks, Alice S AS; Alves, Maria M MM
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Findings of a 1303 Korean whole-exome sequencing study.
Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
Human Molecular Genetics
Tang, Clara Sze-Man CS; Gui, Hongsheng H; Kapoor, Ashish A; Kim, Jeong-Hyun JH; Luzón-Toro, Berta B; Pelet, Anna A; Burzynski, Grzegorz G; Lantieri, Francesca F; So, Man-Ting MT; Berrios, Courtney C; Shin, Hyoung Doo HD; Fernández, Raquel M RM; Le, Thuy-Linh TL; Verheij, Joke B G M JB; Matera, Ivana I; Cherny, Stacey S SS; Nandakumar, Priyanka P; Cheong, Hyun Sub HS; Antiñolo, Guillermo G; Amiel, Jeanne J; Seo, Jeong-Meen JM; Kim, Dae-Yeon DY; Oh, Jung-Tak JT; Lyonnet, Stanislas S; Borrego, Salud S; Ceccherini, Isabella I; Hofstra, Robert M W RM; Chakravarti, Aravinda A; Kim, Hyun-Young HY; Sham, Pak Chung PC; Tam, Paul K H PK; Garcia-Barceló, Maria-Mercè MM
RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.
European Journal Of Human Genetics : Ejhg
Widowati, Titis T; Melhem, Shamiram S; Patria, Suryono Y SY; de Graaf, Bianca M BM; Sinke, Richard J RJ; Viel, Martijn M; Dijkhuis, Jos J; Sadewa, Ahmad H AH; Purwohardjono, Rochadi R; Soenarto, Yati Y; Hofstra, Robert Mw RM; Sribudiani, Yunia Y
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.
Journal Of Human Genetics
Carter, Tonia C TC; Kay, Denise M DM; Browne, Marilyn L ML; Liu, Aiyi A; Romitti, Paul A PA; Kuehn, Devon D; Conley, Mary R MR; Caggana, Michele M; Druschel, Charlotte M CM; Brody, Lawrence C LC; Mills, James L JL
Publication Date: 2012-08
Variant appearance in text: RET: 1465G>A; D489N; rs9282834
Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.
Plos One
Cornes, Belinda K BK; Tang, Clara S CS; Leon, Thomas Y Y TY; Hui, Kenneth J W S KJ; So, Man-Ting MT; Miao, Xiaoping X; Cherny, Stacey S SS; Sham, Pak C PC; Tam, Paul K H PK; Garcia-Barcelo, Maria-Merce MM