Shifting landscapes of human MTHFR missense-variant effects.
American Journal Of Human Genetics
Weile, Jochen J; Kishore, Nishka N; Sun, Song S; Maaieh, Ranim R; Verby, Marta M; Li, Roujia R; Fotiadou, Iosifina I; Kitaygorodsky, Julia J; Wu, Yingzhou Y; Holenstein, Alexander A; Bürer, Céline C; Blomgren, Linnea L; Yang, Shan S; Nussbaum, Robert R; Rozen, Rima R; Watkins, David D; Gebbia, Marinella M; Kozich, Viktor V; Garton, Michael M; Froese, D Sean DS; Roth, Frederick P FP
Publication Date: 2021-07-01
Variant appearance in text: MTHFR: 1004G>A; Arg335His
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.
Nature Genetics
Wu, Gang G; Diaz, Alexander K AK; Paugh, Barbara S BS; Rankin, Sherri L SL; Ju, Bensheng B; Li, Yongjin Y; Zhu, Xiaoyan X; Qu, Chunxu C; Chen, Xiang X; Zhang, Junyuan J; Easton, John J; Edmonson, Michael M; Ma, Xiaotu X; Lu, Charles C; Nagahawatte, Panduka P; Hedlund, Erin E; Rusch, Michael M; Pounds, Stanley S; Lin, Tong T; Onar-Thomas, Arzu A; Huether, Robert R; Kriwacki, Richard R; Parker, Matthew M; Gupta, Pankaj P; Becksfort, Jared J; Wei, Lei L; Mulder, Heather L HL; Boggs, Kristy K; Vadodaria, Bhavin B; Yergeau, Donald D; Russell, Jake C JC; Ochoa, Kerri K; Fulton, Robert S RS; Fulton, Lucinda L LL; Jones, Chris C; Boop, Frederick A FA; Broniscer, Alberto A; Wetmore, Cynthia C; Gajjar, Amar A; Ding, Li L; Mardis, Elaine R ER; Wilson, Richard K RK; Taylor, Michael R MR; Downing, James R JR; Ellison, David W DW; Zhang, Jinghui J; Baker, Suzanne J SJ