Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.
Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03
Variant appearance in text: IRF8: 287C>T; T96M; rs145048966
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.
Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02
Variant appearance in text: IRF8: 287C>T; T96M; rs145048966
Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes.
Human Molecular Genetics
Waller, Rosalie Griffin RG; Klein, Robert J RJ; Vijai, Joseph J; McKay, James D JD; Clay-Gilmour, Alyssa A; Wei, Xiaomu X; Madsen, Michael J MJ; Sborov, Douglas W DW; Curtin, Karen K; Slager, Susan L SL; Offit, Kenneth K; Vachon, Celine M CM; Lipkin, Steven M SM; Dumontet, Charles C; Camp, Nicola J NJ
Publication Date: 2021-06-09
Variant appearance in text: IRF8: T96M; rs145048966
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Functional genomic landscape of acute myeloid leukaemia.
Nature
Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ
Publication Date: 2018-10
Variant appearance in text: IRF8: 287C>T; Thr96Met; rs145048966
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: IRF8: 287C>T; T96M; rs145048966
Biallelic mutations in IRF8 impair human NK cell maturation and function.
The Journal Of Clinical Investigation
Mace, Emily M EM; Bigley, Venetia V; Gunesch, Justin T JT; Chinn, Ivan K IK; Angelo, Laura S LS; Care, Matthew A MA; Maisuria, Sheetal S; Keller, Michael D MD; Togi, Sumihito S; Watkin, Levi B LB; LaRosa, David F DF; Jhangiani, Shalini N SN; Muzny, Donna M DM; Stray-Pedersen, Asbjørg A; Coban Akdemir, Zeynep Z; Smith, Jansen B JB; Hernández-Sanabria, Mayra M; Le, Duy T DT; Hogg, Graham D GD; Cao, Tram N TN; Freud, Aharon G AG; Szymanski, Eva P EP; Savic, Sinisa S; Collin, Matthew M; Cant, Andrew J AJ; Gibbs, Richard A RA; Holland, Steven M SM; Caligiuri, Michael A MA; Ozato, Keiko K; Paust, Silke S; Doody, Gina M GM; Lupski, James R JR; Orange, Jordan S JS
Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease.
American Journal Of Respiratory And Critical Care Medicine
Szymanski, Eva P EP; Leung, Janice M JM; Fowler, Cedar J CJ; Haney, Carissa C; Hsu, Amy P AP; Chen, Fei F; Duggal, Priya P; Oler, Andrew J AJ; McCormack, Ryan R; Podack, Eckhard E; Drummond, Rebecca A RA; Lionakis, Michail S MS; Browne, Sarah K SK; Prevots, D Rebecca DR; Knowles, Michael M; Cutting, Gary G; Liu, Xinyue X; Devine, Scott E SE; Fraser, Claire M CM; Tettelin, Hervé H; Olivier, Kenneth N KN; Holland, Steven M SM
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Nature Genetics
Rivas, Manuel A MA; Beaudoin, Mélissa M; Gardet, Agnes A; Stevens, Christine C; Sharma, Yashoda Y; Zhang, Clarence K CK; Boucher, Gabrielle G; Ripke, Stephan S; Ellinghaus, David D; Burtt, Noel N; Fennell, Tim T; Kirby, Andrew A; Latiano, Anna A; Goyette, Philippe P; Green, Todd T; Halfvarson, Jonas J; Haritunians, Talin T; Korn, Joshua M JM; Kuruvilla, Finny F; Lagacé, Caroline C; Neale, Benjamin B; Lo, Ken Sin KS; Schumm, Phil P; Törkvist, Leif L; , ; , ; , ; Dubinsky, Marla C MC; Brant, Steven R SR; Silverberg, Mark S MS; Duerr, Richard H RH; Altshuler, David D; Gabriel, Stacey S; Lettre, Guillaume G; Franke, Andre A; D'Amato, Mauro M; McGovern, Dermot P B DP; Cho, Judy H JH; Rioux, John D JD; Xavier, Ramnik J RJ; Daly, Mark J MJ