Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: MET: 967A>G; Ser323Gly
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: MET: S323G; rs201467281
A common MET polymorphism harnesses HER2 signaling to drive aggressive squamous cell carcinoma.
Nature Communications
Kong, Li Ren LR; Mohamed Salleh, Nur Afiqah Binte NAB; Ong, Richard Weijie RW; Tan, Tuan Zea TZ; Syn, Nicholas L NL; Goh, Robby Miguel RM; Fhu, Chee Wai CW; Tan, Daniel S W DSW; Iyer, N Gopalakrishna NG; Kannan, Srinivasaraghavan S; Verma, Chandra S CS; Lim, Yaw Chyn YC; Soo, Ross R; Ho, Jingshan J; Huang, Yiqing Y; Lim, Joline S J JSJ; Yan, Benedict Junrong BJ; Nga, Min En ME; Lim, Seng Gee SG; Koeffler, H Phillip HP; Lee, Soo Chin SC; Kappei, Dennis D; Hung, Huynh The HT; Goh, Boon Cher BC
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.
Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20
Variant appearance in text: MET: 967A>G; S323G; rs201467281
Recurrent Mutations of Chromatin-Remodeling Genes and Kinase Receptors in Pheochromocytomas and Paragangliomas.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Toledo, Rodrigo A RA; Qin, Yuejuan Y; Cheng, Zi-Ming ZM; Gao, Qing Q; Iwata, Shintaro S; Silva, Gustavo M GM; Prasad, Manju L ML; Ocal, I Tolgay IT; Rao, Sarika S; Aronin, Neil N; Barontini, Marta M; Bruder, Jan J; Reddick, Robert L RL; Chen, Yidong Y; Aguiar, Ricardo C T RC; Dahia, Patricia L M PL
Functional consequence of the MET-T1010I polymorphism in breast cancer.
Oncotarget
Liu, Shuying S; Meric-Bernstam, Funda F; Parinyanitikul, Napa N; Wang, Bailiang B; Eterovic, Agda K AK; Zheng, Xiaofeng X; Gagea, Mihai M; Chavez-MacGregor, Mariana M; Ueno, Naoto T NT; Lei, Xiudong X; Zhou, Wanding W; Nair, Lakshmy L; Tripathy, Debu D; Brown, Powel H PH; Hortobagyi, Gabriel N GN; Chen, Ken K; Mendelsohn, John J; Mills, Gordon B GB; Gonzalez-Angulo, Ana M AM
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
A novel classification of lung cancer into molecular subtypes.
Plos One
West, Lisandra L; Vidwans, Smruti J SJ; Campbell, Nicholas P NP; Shrager, Jeff J; Simon, George R GR; Bueno, Raphael R; Dennis, Phillip A PA; Otterson, Gregory A GA; Salgia, Ravi R