FBN1 Coding Variants and Nonsyndromic Aortic Disease.
Circulation. Genomic And Precision Medicine
Damrauer, Scott M SM; Hardie, Kara K; Kember, Rachel L RL; Judy, Renae R; Birtwell, David D; Williams, Heather H; Rader, Daniel J DJ; Pyeritz, Reed E RE
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.
Clinical Genetics
Regalado, E S ES; Guo, D C DC; Santos-Cortez, R L P RL; Hostetler, E E; Bensend, T A TA; Pannu, H H; Estrera, A A; Safi, H H; Mitchell, A L AL; Evans, J P JP; Leal, S M SM; Bamshad, M M; Shendure, J J; Nickerson, D A DA; , ; Milewicz, D M DM
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Genome Research
Amendola, Laura M LM; Dorschner, Michael O MO; Robertson, Peggy D PD; Salama, Joseph S JS; Hart, Ragan R; Shirts, Brian H BH; Murray, Mitzi L ML; Tokita, Mari J MJ; Gallego, Carlos J CJ; Kim, Daniel Seung DS; Bennett, James T JT; Crosslin, David R DR; Ranchalis, Jane J; Jones, Kelly L KL; Rosenthal, Elisabeth A EA; Jarvik, Ella R ER; Itsara, Andy A; Turner, Emily H EH; Herman, Daniel S DS; Schleit, Jennifer J; Burt, Amber A; Jamal, Seema M SM; Abrudan, Jenica L JL; Johnson, Andrew D AD; Conlin, Laura K LK; Dulik, Matthew C MC; Santani, Avni A; Metterville, Danielle R DR; Kelly, Melissa M; Foreman, Ann Katherine M AK; Lee, Kristy K; Taylor, Kent D KD; Guo, Xiuqing X; Crooks, Kristy K; Kiedrowski, Lesli A LA; Raffel, Leslie J LJ; Gordon, Ora O; Machini, Kalotina K; Desnick, Robert J RJ; Biesecker, Leslie G LG; Lubitz, Steven A SA; Mulchandani, Surabhi S; Cooper, Greg M GM; Joffe, Steven S; Richards, C Sue CS; Yang, Yaoping Y; Rotter, Jerome I JI; Rich, Stephen S SS; O'Donnell, Christopher J CJ; Berg, Jonathan S JS; Spinner, Nancy B NB; Evans, James P JP; Fullerton, Stephanie M SM; Leppig, Kathleen A KA; Bennett, Robin L RL; Bird, Thomas T; Sybert, Virginia P VP; Grady, William M WM; Tabor, Holly K HK; Kim, Jerry H JH; Bamshad, Michael J MJ; Wilfond, Benjamin B; Motulsky, Arno G AG; Scott, C Ronald CR; Pritchard, Colin C CC; Walsh, Tom D TD; Burke, Wylie W; Raskind, Wendy H WH; Byers, Peter P; Hisama, Fuki M FM; Rehm, Heidi H; Nickerson, Debbie A DA; Jarvik, Gail P GP
Publication Date: 2015-03
Variant appearance in text: FBN1: 4270C>G; Pro1424Ala
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L