Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
New methodology of TMB assessment from tissue and liquid biopsy in NSCLC.
Plos One
Křížová, Ľudmila Ľ; Šafaříková, Markéta M; Kalousová, Marta M; Pfeiferová, Lucie L; Kuběna, Aleš Antonín AA; Vočka, Michal M; Ulrych, Jan J; Franková, Věra V; Petruželka, Luboš L; Zima, Tomáš T; Feltl, David D
Publication Date: 2022
Variant appearance in text: ALK: 3375C>A; rs3795850
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.
Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
Journal Of Medical Case Reports
García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C
Publication Date: 2020-08-31
Variant appearance in text: ALK: 3375C>A; Gly1125=
Genomic characterization of malignant progression in neoplastic pancreatic cysts.
Nature Communications
Noë, Michaël M; Niknafs, Noushin N; Fischer, Catherine G CG; Hackeng, Wenzel M WM; Beleva Guthrie, Violeta V; Hosoda, Waki W; Debeljak, Marija M; Papp, Eniko E; Adleff, Vilmos V; White, James R JR; Luchini, Claudio C; Pea, Antonio A; Scarpa, Aldo A; Butturini, Giovanni G; Zamboni, Giuseppe G; Castelli, Paola P; Hong, Seung-Mo SM; Yachida, Shinichi S; Hiraoka, Nobuyoshi N; Gill, Anthony J AJ; Samra, Jaswinder S JS; Offerhaus, G Johan A GJA; Hoorens, Anne A; Verheij, Joanne J; Jansen, Casper C; Adsay, N Volkan NV; Jiang, Wei W; Winter, Jordan J; Albores-Saavedra, Jorge J; Terris, Benoit B; Thompson, Elizabeth D ED; Roberts, Nicholas J NJ; Hruban, Ralph H RH; Karchin, Rachel R; Scharpf, Robert B RB; Brosens, Lodewijk A A LAA; Velculescu, Victor E VE; Wood, Laura D LD
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: ALK: G1125G; rs3795850
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30
Variant appearance in text: ALK: G1125G; rs3795850
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.
Oncotarget
Izquierdo, Elisa E; Yuan, Lina L; George, Sally S; Hubank, Michael M; Jones, Chris C; Proszek, Paula P; Shipley, Janet J; Gatz, Susanne A SA; Stinson, Caedyn C; Moore, Andrew S AS; Clifford, Steven C SC; Hicks, Debbie D; Lindsey, Janet C JC; Hill, Rebecca M RM; Jacques, Thomas S TS; Chalker, Jane J; Thway, Khin K; O'Connor, Simon S; Marshall, Lynley L; Moreno, Lucas L; Pearson, Andrew A; Chesler, Louis L; Walker, Brian A BA; De Castro, David Gonzalez DG
Publication Date: 2017-12-19
Variant appearance in text: ALK: G1125G; rs3795850
IGF1R as a Key Target in High Risk, Metastatic Medulloblastoma.
Scientific Reports
Svalina, Matthew N MN; Kikuchi, Ken K; Abraham, Jinu J; Lal, Sangeet S; Davare, Monika A MA; Settelmeyer, Teagan P TP; Young, Michael C MC; Peckham, Jennifer L JL; Cho, Yoon-Jae YJ; Michalek, Joel E JE; Hernandez, Brian S BS; Berlow, Noah E NE; Jackson, Melanie M; Guillaume, Daniel J DJ; Selden, Nathan R NR; Bigner, Darell D DD; Nazemi, Kellie J KJ; Green, Sarah C SC; Corless, Christopher L CL; Gultekin, Sakir S; Mansoor, Atiya A; Rubin, Brian P BP; Woltjer, Randall R; Keller, Charles C
Publication Date: 2016-06-03
Variant appearance in text: ALK: G1125G; rs3795850
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: ALK: G1125G; rs3795850
Mechanisms of resistance to crizotinib in patients with ALK gene rearranged non-small cell lung cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Doebele, Robert C RC; Pilling, Amanda B AB; Aisner, Dara L DL; Kutateladze, Tatiana G TG; Le, Anh T AT; Weickhardt, Andrew J AJ; Kondo, Kimi L KL; Linderman, Derek J DJ; Heasley, Lynn E LE; Franklin, Wilbur A WA; Varella-Garcia, Marileila M; Camidge, D Ross DR