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
High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.
International Journal Of Molecular Sciences
Bernal, Sara S; Pelaez, Irene I; Alias, Laura L; Baena, Manel M; De Pablo-Moreno, Juan A JA; Serrano, Luis J LJ; Camero, M Dolores MD; Tizzano, Eduardo F EF; Berrueco, Ruben R; Liras, Antonio A
Publication Date: 2021-09-08
Variant appearance in text: F5: 1238T>C; Met413Thr; rs6033
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: F5: 1238T>C; M413T; rs6033
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
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
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
Publication Date: 2019-02-27
Variant appearance in text: F5: 1238T>C; Met413Thr; rs6033
Factor V levels and risk of venous thrombosis: The MEGA case-control study.
Research And Practice In Thrombosis And Haemostasis
Rietveld, Inge M IM; Bos, Mettine H A MHA; Lijfering, Willem M WM; Li-Gao, Ruifang R; Rosendaal, Frits R FR; Reitsma, Pieter H PH; Cannegieter, Suzanne C SC
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.
ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.
Circulation. Genomic And Precision Medicine
Bihlmeyer, Nathan A NA; Brody, Jennifer A JA; Smith, Albert Vernon AV; Warren, Helen R HR; Lin, Honghuang H; Isaacs, Aaron A; Liu, Ching-Ti CT; Marten, Jonathan J; Radmanesh, Farid F; Hall, Leanne M LM; Grarup, Niels N; Mei, Hao H; Müller-Nurasyid, Martina M; Huffman, Jennifer E JE; Verweij, Niek N; Guo, Xiuqing X; Yao, Jie J; Li-Gao, Ruifang R; van den Berg, Marten M; Weiss, Stefan S; Prins, Bram P BP; van Setten, Jessica J; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Li, Man M; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Bis, Joshua C JC; Austin, Tom T; Chen, Yii-Der Ida YI; Psaty, Bruce M BM; Harrris, Tamara B TB; Launer, Lenore J LJ; Padmanabhan, Sandosh S; Dominiczak, Anna A; Huang, Paul L PL; Xie, Zhijun Z; Ellinor, Patrick T PT; Kors, Jan A JA; Campbell, Archie A; Murray, Alison D AD; Nelson, Christopher P CP; Tobin, Martin D MD; Bork-Jensen, Jette J; Hansen, Torben T; Pedersen, Oluf O; Linneberg, Allan A; Sinner, Moritz F MF; Peters, Annette A; Waldenberger, Melanie M; Meitinger, Thomas T; Perz, Siegfried S; Kolcic, Ivana I; Rudan, Igor I; de Boer, Rudolf A RA; van der Meer, Peter P; Lin, Henry J HJ; Taylor, Kent D KD; de Mutsert, Renée R; Trompet, Stella S; Jukema, J Wouter JW; Maan, Arie C AC; Stricker, Bruno H C BHC; Rivadeneira, Fernando F; Uitterlinden, André A; Völker, Uwe U; Homuth, Georg G; Völzke, Henry H; Felix, Stephan B SB; Mangino, Massimo M; Spector, Timothy D TD; Bots, Michiel L ML; Perez, Marco M; Raitakari, Olli T OT; Kähönen, Mika M; Mononen, Nina N; Gudnason, Vilmundur V; Munroe, Patricia B PB; Lubitz, Steven A SA; van Duijn, Cornelia M CM; Newton-Cheh, Christopher H CH; Hayward, Caroline C; Rosand, Jonathan J; Samani, Nilesh J NJ; Kanters, Jørgen K JK; Wilson, James G JG; Kääb, Stefan S; Polasek, Ozren O; van der Harst, Pim P; Heckbert, Susan R SR; Rotter, Jerome I JI; Mook-Kanamori, Dennis O DO; Eijgelsheim, Mark M; Dörr, Marcus M; Jamshidi, Yalda Y; Asselbergs, Folkert W FW; Kooperberg, Charles C; Lehtimäki, Terho T; Arking, Dan E DE; Sotoodehnia, Nona N
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
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
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Association of warfarin dose with genes involved in its action and metabolism.
Human Genetics
Wadelius, Mia M; Chen, Leslie Y LY; Eriksson, Niclas N; Bumpstead, Suzannah S; Ghori, Jilur J; Wadelius, Claes C; Bentley, David D; McGinnis, Ralph R; Deloukas, Panos P