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: FGFR1: 374C>T; Ser125Leu
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; ,
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.
Npj Genomic Medicine
van Eyk, C L CL; Webber, D L DL; Minoche, A E AE; Pérez-Jurado, L A LA; Corbett, M A MA; Gardner, A E AE; Berry, J G JG; Harper, K K; MacLennan, A H AH; Gecz, J J
Development and validation of a targeted gene sequencing panel for application to disparate cancers.
Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
Targeted mutation detection in breast cancer using MammaSeq™.
Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.
Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Screening of mutations affecting protein stability and dynamics of FGFR1-A simulation analysis.
Applied & Translational Genomics
Doss, C George Priya CG; Rajith, B B; Garwasis, Nimisha N; Mathew, Pretty Raju PR; Raju, Anand Solomon AS; Apoorva, K K; William, Denise D; Sadhana, N R NR; Himani, Tanwar T; Dike, I P IP
Publication Date: 2012-12-01
Variant appearance in text: FGFR1: S125L; rs121913473
Evaluation of BGJ398, a Fibroblast Growth Factor Receptor 1-3 Kinase Inhibitor, in Patients With Advanced Solid Tumors Harboring Genetic Alterations in Fibroblast Growth Factor Receptors: Results of a Global Phase I, Dose-Escalation and Dose-Expansion Study.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Nogova, Lucia L; Sequist, Lecia V LV; Perez Garcia, Jose Manuel JM; Andre, Fabrice F; Delord, Jean-Pierre JP; Hidalgo, Manuel M; Schellens, Jan H M JH; Cassier, Philippe A PA; Camidge, D Ross DR; Schuler, Martin M; Vaishampayan, Ulka U; Burris, Howard H; Tian, G Gary GG; Campone, Mario M; Wainberg, Zev A ZA; Lim, Wan-Teck WT; LoRusso, Patricia P; Shapiro, Geoffrey I GI; Parker, Katie K; Chen, Xueying X; Choudhury, Somesh S; Ringeisen, Francois F; Graus-Porta, Diana D; Porter, Dale D; Isaacs, Randi R; Buettner, Reinhard R; Wolf, Jürgen J
Mutation profiling in chinese patients with metastatic colorectal cancer and its correlation with clinicopathological features and anti-EGFR treatment response.
Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.
Oncotarget
Lee, Ji Yun JY; Park, Kyunghee K; Lim, Sung Hee SH; Kim, Hae Su HS; Yoo, Kwai Han KH; Jung, Ki Sun KS; Song, Haa-Na HN; Hong, Mineui M; Do, In-Gu IG; Ahn, TaeJin T; Lee, Se Kyung SK; Bae, Soo Youn SY; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Jung, Hae Hyun HH; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Patient-derived cell models as preclinical tools for genome-directed targeted therapy.
Oncotarget
Lee, Ji Yun JY; Kim, Sun Young SY; Park, Charny C; Kim, Nayoung K D NK; Jang, Jiryeon J; Park, Kyunghee K; Yi, Jun Ho JH; Hong, Mineui M; Ahn, Taejin T; Rath, Oliver O; Schueler, Julia J; Kim, Seung Tae ST; Do, In-Gu IG; Lee, Sujin S; Park, Se Hoon SH; Ji, Yong Ick YI; Kim, Dukwhan D; Park, Joon Oh JO; Park, Young Suk YS; Kang, Won Ki WK; Kim, Kyoung-Mee KM; Park, Woong-Yang WY; Lim, Ho Yeong HY; Lee, Jeeyun J
Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.
Oncotarget
Park, Kyunghee K; Choi, Moon Ki MK; Jung, Hae Hyun HH; Do, In-Gu IG; Lee, Kwang Hee KH; Ahn, TaeJin T; Kil, Won Ho WH; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.
Plos One
Kim, Seokhwi S; Lee, Jeeyun J; Hong, Min Eui ME; Do, In-Gu IG; Kang, So Young SY; Ha, Sang Yun SY; Kim, Seung Tae ST; Park, Se Hoon SH; Kang, Won Ki WK; Choi, Min-Gew MG; Lee, Jun Ho JH; Sohn, Tae Sung TS; Bae, Jae Moon JM; Kim, Sung S; Kim, Duk-Hwan DH; Kim, Kyoung-Mee KM
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
The Journal Of Molecular Diagnostics : Jmd
MacConaill, Laura E LE; Garcia, Elizabeth E; Shivdasani, Priyanka P; Ducar, Matthew M; Adusumilli, Ravali R; Breneiser, Marc M; Byrne, Mark M; Chung, Lawrence L; Conneely, Jodie J; Crosby, Lauren L; Garraway, Levi A LA; Gong, Xin X; Hahn, William C WC; Hatton, Charlie C; Kantoff, Philip W PW; Kluk, Michael M; Kuo, Frank F; Jia, Yonghui Y; Joshi, Ruchi R; Longtine, Janina J; Manning, Allison A; Palescandolo, Emanuele E; Sharaf, Nematullah N; Sholl, Lynette L; van Hummelen, Paul P; Wade, Jacqueline J; Wollinson, Bruce M BM; Zepf, Dimity D; Rollins, Barrett J BJ; Lindeman, Neal I NI
Selective activity over a constitutively active RET-variant of the oral multikinase inhibitor dovitinib: results of the CNIO-BR002 phase I-trial.
Molecular Oncology
Quintela-Fandino, Miguel M; Bueno, Maria J MJ; Lombardia, Luis L; Gil, Marta M; Gonzalez-Martin, Antonio A; Marquez, Raul R; Bratos, Raquel R; Guerra, Juan J; Tan, Eugene E; Lopez, Antonio A; Colomer, Ramon R; Salazar, Ramon R
Publication Date: 2014-12
Variant appearance in text: FGFR1: S125L; rs121913473
Correlation of BRAF and NRAS mutation status with outcome, site of distant metastasis and response to chemotherapy in metastatic melanoma.
British Journal Of Cancer
Carlino, M S MS; Haydu, L E LE; Kakavand, H H; Menzies, A M AM; Hamilton, A L AL; Yu, B B; Ng, C C CC; Cooper, W A WA; Thompson, J F JF; Kefford, R F RF; O'Toole, S A SA; Scolyer, R A RA; Long, G V GV
The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity.
Nature
Barretina, Jordi J; Caponigro, Giordano G; Stransky, Nicolas N; Venkatesan, Kavitha K; Margolin, Adam A AA; Kim, Sungjoon S; Wilson, Christopher J CJ; Lehár, Joseph J; Kryukov, Gregory V GV; Sonkin, Dmitriy D; Reddy, Anupama A; Liu, Manway M; Murray, Lauren L; Berger, Michael F MF; Monahan, John E JE; Morais, Paula P; Meltzer, Jodi J; Korejwa, Adam A; Jané-Valbuena, Judit J; Mapa, Felipa A FA; Thibault, Joseph J; Bric-Furlong, Eva E; Raman, Pichai P; Shipway, Aaron A; Engels, Ingo H IH; Cheng, Jill J; Yu, Guoying K GK; Yu, Jianjun J; Aspesi, Peter P; de Silva, Melanie M; Jagtap, Kalpana K; Jones, Michael D MD; Wang, Li L; Hatton, Charles C; Palescandolo, Emanuele E; Gupta, Supriya S; Mahan, Scott S; Sougnez, Carrie C; Onofrio, Robert C RC; Liefeld, Ted T; MacConaill, Laura L; Winckler, Wendy W; Reich, Michael M; Li, Nanxin N; Mesirov, Jill P JP; Gabriel, Stacey B SB; Getz, Gad G; Ardlie, Kristin K; Chan, Vivien V; Myer, Vic E VE; Weber, Barbara L BL; Porter, Jeff J; Warmuth, Markus M; Finan, Peter P; Harris, Jennifer L JL; Meyerson, Matthew M; Golub, Todd R TR; Morrissey, Michael P MP; Sellers, William R WR; Schlegel, Robert R; Garraway, Levi A LA
Profiling critical cancer gene mutations in clinical tumor samples.
Plos One
MacConaill, Laura E LE; Campbell, Catarina D CD; Kehoe, Sarah M SM; Bass, Adam J AJ; Hatton, Charles C; Niu, Lili L; Davis, Matt M; Yao, Keluo K; Hanna, Megan M; Mondal, Chandrani C; Luongo, Lauren L; Emery, Caroline M CM; Baker, Alissa C AC; Philips, Juliet J; Goff, Deborah J DJ; Fiorentino, Michelangelo M; Rubin, Mark A MA; Polyak, Kornelia K; Chan, Jennifer J; Wang, Yuexiang Y; Fletcher, Jonathan A JA; Santagata, Sandro S; Corso, Gianni G; Roviello, Franco F; Shivdasani, Ramesh R; Kieran, Mark W MW; Ligon, Keith L KL; Stiles, Charles D CD; Hahn, William C WC; Meyerson, Matthew L ML; Garraway, Levi A LA
Sequence survey of receptor tyrosine kinases reveals mutations in glioblastomas.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Rand, Vikki V; Huang, Jiaqi J; Stockwell, Tim T; Ferriera, Steve S; Buzko, Oleksandr O; Levy, Samuel S; Busam, Dana D; Li, Kelvin K; Edwards, Jennifer B JB; Eberhart, Charles C; Murphy, Kathleen M KM; Tsiamouri, Alexia A; Beeson, Karen K; Simpson, Andrew J G AJ; Venter, J Craig JC; Riggins, Gregory J GJ; Strausberg, Robert L RL