Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
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
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29
Variant appearance in text: PRRC2B: M417V; rs34553878
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: BAT2L1: 1249A>G; rs34553878
Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.
Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
The role of myoglobin in epithelial cancers: Insights from transcriptomics.
International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02
Variant appearance in text: PRRC2B: 1249A>G; Met417Val
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: PRRC2B: M417V; rs34553878
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: PRRC2B: M417V; rs34553878
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.
Nature Genetics
Liu, Mengzhen M; Jiang, Yu Y; Wedow, Robbee R; Li, Yue Y; Brazel, David M DM; Chen, Fang F; Datta, Gargi G; Davila-Velderrain, Jose J; McGuire, Daniel D; Tian, Chao C; Zhan, Xiaowei X; , ; , ; Choquet, Hélène H; Docherty, Anna R AR; Faul, Jessica D JD; Foerster, Johanna R JR; Fritsche, Lars G LG; Gabrielsen, Maiken Elvestad ME; Gordon, Scott D SD; Haessler, Jeffrey J; Hottenga, Jouke-Jan JJ; Huang, Hongyan H; Jang, Seon-Kyeong SK; Jansen, Philip R PR; Ling, Yueh Y; Mägi, Reedik R; Matoba, Nana N; McMahon, George G; Mulas, Antonella A; Orrù, Valeria V; Palviainen, Teemu T; Pandit, Anita A; Reginsson, Gunnar W GW; Skogholt, Anne Heidi AH; Smith, Jennifer A JA; Taylor, Amy E AE; Turman, Constance C; Willemsen, Gonneke G; Young, Hannah H; Young, Kendra A KA; Zajac, Gregory J M GJM; Zhao, Wei W; Zhou, Wei W; Bjornsdottir, Gyda G; Boardman, Jason D JD; Boehnke, Michael M; Boomsma, Dorret I DI; Chen, Chu C; Cucca, Francesco F; Davies, Gareth E GE; Eaton, Charles B CB; Ehringer, Marissa A MA; Esko, Tõnu T; Fiorillo, Edoardo E; Gillespie, Nathan A NA; Gudbjartsson, Daniel F DF; Haller, Toomas T; Harris, Kathleen Mullan KM; Heath, Andrew C AC; Hewitt, John K JK; Hickie, Ian B IB; Hokanson, John E JE; Hopfer, Christian J CJ; Hunter, David J DJ; Iacono, William G WG; Johnson, Eric O EO; Kamatani, Yoichiro Y; Kardia, Sharon L R SLR; Keller, Matthew C MC; Kellis, Manolis M; Kooperberg, Charles C; Kraft, Peter P; Krauter, Kenneth S KS; Laakso, Markku M; Lind, Penelope A PA; Loukola, Anu A; Lutz, Sharon M SM; Madden, Pamela A F PAF; Martin, Nicholas G NG; McGue, Matt M; McQueen, Matthew B MB; Medland, Sarah E SE; Metspalu, Andres A; Mohlke, Karen L KL; Nielsen, Jonas B JB; Okada, Yukinori Y; Peters, Ulrike U; Polderman, Tinca J C TJC; Posthuma, Danielle D; Reiner, Alexander P AP; Rice, John P JP; Rimm, Eric E; Rose, Richard J RJ; Runarsdottir, Valgerdur V; Stallings, Michael C MC; Stančáková, Alena A; Stefansson, Hreinn H; Thai, Khanh K KK; Tindle, Hilary A HA; Tyrfingsson, Thorarinn T; Wall, Tamara L TL; Weir, David R DR; Weisner, Constance C; Whitfield, John B JB; Winsvold, Bendik Slagsvold BS; Yin, Jie J; Zuccolo, Luisa L; Bierut, Laura J LJ; Hveem, Kristian K; Lee, James J JJ; Munafò, Marcus R MR; Saccone, Nancy L NL; Willer, Cristen J CJ; Cornelis, Marilyn C MC; David, Sean P SP; Hinds, David A DA; Jorgenson, Eric E; Kaprio, Jaakko J; Stitzel, Jerry A JA; Stefansson, Kari K; Thorgeirsson, Thorgeir E TE; Abecasis, Gonçalo G; Liu, Dajiang J DJ; Vrieze, Scott S
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15
Variant appearance in text: PRRC2B: M417V; rs34553878
PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.
Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
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
Publication Date: 2015-12-08
Variant appearance in text: PRRC2B: M417V; rs34553878
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: PRRC2B: M417V; rs34553878