A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.
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
A systematic review of common genetic variation and biological pathways in autism spectrum disorder.
Bmc Neuroscience
Rodriguez-Gomez, Diego Alejandro DA; Garcia-Guaqueta, Danna Paola DP; Charry-Sánchez, Jesús David JD; Sarquis-Buitrago, Elias E; Blanco, Mariana M; Velez-van-Meerbeke, Alberto A; Talero-Gutiérrez, Claudia C
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
Publication Date: 2021-01-08
Variant appearance in text: APC: 5880G>A; rs465899
Plasma-derived extracellular vesicle analysis and deconvolution enable prediction and tracking of melanoma checkpoint blockade outcome.
Science Advances
Shi, Alvin A; Kasumova, Gyulnara G GG; Michaud, William A WA; Cintolo-Gonzalez, Jessica J; Díaz-Martínez, Marta M; Ohmura, Jacqueline J; Mehta, Arnav A; Chien, Isabel I; Frederick, Dennie T DT; Cohen, Sonia S; Plana, Deborah D; Johnson, Douglas D; Flaherty, Keith T KT; Sullivan, Ryan J RJ; Kellis, Manolis M; Boland, Genevieve M GM
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: APC: 5880G>A; Pro1960=
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
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
Double-Edged Sword of Tumour Suppressor Genes in Schizophrenia.
Frontiers In Molecular Neuroscience
Zhuo, Chuanjun C; Wang, Dawei D; Zhou, Chunhua C; Chen, Ce C; Li, Jie J; Tian, Hongjun H; Li, Shen S; Ji, Feng F; Liu, Chuanxin C; Chen, Min M; Zhang, Li L
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.
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Plos One
Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z
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
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.
Scientific Reports
Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I
Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients.
Oncology Letters
Yang, Jun J; Liu, Wei Qing WQ; Li, Wen Liang WL; Chen, Cheng C; Zhu, Zhu Z; Hong, Min M; Wang, Zhi Qiang ZQ; Dong, Jian J
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
American Journal Of Human Genetics
Li, Jun J; Woods, Susan L SL; Healey, Sue S; Beesley, Jonathan J; Chen, Xiaoqing X; Lee, Jason S JS; Sivakumaran, Haran H; Wayte, Nicci N; Nones, Katia K; Waterfall, Joshua J JJ; Pearson, John J; Patch, Anne-Marie AM; Senz, Janine J; Ferreira, Manuel A MA; Kaurah, Pardeep P; Mackenzie, Robertson R; Heravi-Moussavi, Alireza A; Hansford, Samantha S; Lannagan, Tamsin R M TRM; Spurdle, Amanda B AB; Simpson, Peter T PT; da Silva, Leonard L; Lakhani, Sunil R SR; Clouston, Andrew D AD; Bettington, Mark M; Grimpen, Florian F; Busuttil, Rita A RA; Di Costanzo, Natasha N; Boussioutas, Alex A; Jeanjean, Marie M; Chong, George G; Fabre, Aurélie A; Olschwang, Sylviane S; Faulkner, Geoffrey J GJ; Bellos, Evangelos E; Coin, Lachlan L; Rioux, Kevin K; Bathe, Oliver F OF; Wen, Xiaogang X; Martin, Hilary C HC; Neklason, Deborah W DW; Davis, Sean R SR; Walker, Robert L RL; Calzone, Kathleen A KA; Avital, Itzhak I; Heller, Theo T; Koh, Christopher C; Pineda, Marbin M; Rudloff, Udo U; Quezado, Martha M; Pichurin, Pavel N PN; Hulick, Peter J PJ; Weissman, Scott M SM; Newlin, Anna A; Rubinstein, Wendy S WS; Sampson, Jone E JE; Hamman, Kelly K; Goldgar, David D; Poplawski, Nicola N; Phillips, Kerry K; Schofield, Lyn L; Armstrong, Jacqueline J; Kiraly-Borri, Cathy C; Suthers, Graeme K GK; Huntsman, David G DG; Foulkes, William D WD; Carneiro, Fatima F; Lindor, Noralane M NM; Edwards, Stacey L SL; French, Juliet D JD; Waddell, Nicola N; Meltzer, Paul S PS; Worthley, Daniel L DL; Schrader, Kasmintan A KA; Chenevix-Trench, Georgia G
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families.
Genome Medicine
Lin, Yiing Y; Lin, Shin S; Baxter, Melanie D MD; Lin, Lawrence L; Kennedy, Susan M SM; Zhang, Zhengyan Z; Goodfellow, Paul J PJ; Chapman, William C WC; Davidson, Nicholas O NO
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
Identification of novel mutations by exome sequencing in African American colorectal cancer patients.
Cancer
Ashktorab, Hassan H; Daremipouran, Mohammad M; Devaney, Joe J; Varma, Sudhir S; Rahi, Hamed H; Lee, Edward E; Shokrani, Babak B; Schwartz, Russell R; Nickerson, Michael L ML; Brim, Hassan H