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
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: CRTC2: 439A>G; M147V; rs11264680
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; ,
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
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: CRTC2: M147V; rs11264680
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: CRTC2: M147V; rs11264680
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
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02
Variant appearance in text: CRTC2: M147V; rs11264680
Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.
Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J
Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
Nature Genetics
Barban, Nicola N; Jansen, Rick R; de Vlaming, Ronald R; Vaez, Ahmad A; Mandemakers, Jornt J JJ; Tropf, Felix C FC; Shen, Xia X; Wilson, James F JF; Chasman, Daniel I DI; Nolte, Ilja M IM; Tragante, Vinicius V; van der Laan, Sander W SW; Perry, John R B JR; Kong, Augustine A; , ; Ahluwalia, Tarunveer S TS; Albrecht, Eva E; Yerges-Armstrong, Laura L; Atzmon, Gil G; Auro, Kirsi K; Ayers, Kristin K; Bakshi, Andrew A; Ben-Avraham, Danny D; Berger, Klaus K; Bergman, Aviv A; Bertram, Lars L; Bielak, Lawrence F LF; Bjornsdottir, Gyda G; Bonder, Marc Jan MJ; Broer, Linda L; Bui, Minh M; Barbieri, Caterina C; Cavadino, Alana A; Chavarro, Jorge E JE; Turman, Constance C; Concas, Maria Pina MP; Cordell, Heather J HJ; Davies, Gail G; Eibich, Peter P; Eriksson, Nicholas N; Esko, Tõnu T; Eriksson, Joel J; Falahi, Fahimeh F; Felix, Janine F JF; Fontana, Mark Alan MA; Franke, Lude L; Gandin, Ilaria I; Gaskins, Audrey J AJ; Gieger, Christian C; Gunderson, Erica P EP; Guo, Xiuqing X; Hayward, Caroline C; He, Chunyan C; Hofer, Edith E; Huang, Hongyan H; Joshi, Peter K PK; Kanoni, Stavroula S; Karlsson, Robert R; Kiechl, Stefan S; Kifley, Annette A; Kluttig, Alexander A; Kraft, Peter P; Lagou, Vasiliki V; Lecoeur, Cecile C; Lahti, Jari J; Li-Gao, Ruifang R; Lind, Penelope A PA; Liu, Tian T; Makalic, Enes E; Mamasoula, Crysovalanto C; Matteson, Lindsay L; Mbarek, Hamdi H; McArdle, Patrick F PF; McMahon, George G; Meddens, S Fleur W SF; Mihailov, Evelin E; Miller, Mike M; Missmer, Stacey A SA; Monnereau, Claire C; van der Most, Peter J PJ; Myhre, Ronny R; Nalls, Mike A MA; Nutile, Teresa T; Kalafati, Ioanna Panagiota IP; Porcu, Eleonora E; Prokopenko, Inga I; Rajan, Kumar B KB; Rich-Edwards, Janet J; Rietveld, Cornelius A CA; Robino, Antonietta A; Rose, Lynda M LM; Rueedi, Rico R; Ryan, Kathleen A KA; Saba, Yasaman Y; Schmidt, Daniel D; Smith, Jennifer A JA; Stolk, Lisette L; Streeten, Elizabeth E; Tönjes, Anke A; Thorleifsson, Gudmar G; Ulivi, Sheila S; Wedenoja, Juho J; Wellmann, Juergen J; Willeit, Peter P; Yao, Jie J; Yengo, Loic L; Zhao, Jing Hua JH; Zhao, Wei W; Zhernakova, Daria V DV; Amin, Najaf N; Andrews, Howard H; Balkau, Beverley B; Barzilai, Nir N; Bergmann, Sven S; Biino, Ginevra G; Bisgaard, Hans H; Bønnelykke, Klaus K; Boomsma, Dorret I DI; Buring, Julie E JE; Campbell, Harry H; Cappellani, Stefania S; Ciullo, Marina M; Cox, Simon R SR; Cucca, Francesco F; Toniolo, Daniela D; Davey-Smith, George G; Deary, Ian J IJ; Dedoussis, George G; Deloukas, Panos P; van Duijn, Cornelia M CM; de Geus, Eco J C EJ; Eriksson, Johan G JG; Evans, Denis A DA; Faul, Jessica D JD; Sala, Cinzia Felicita CF; Froguel, Philippe P; Gasparini, Paolo P; Girotto, Giorgia G; Grabe, Hans-Jörgen HJ; Greiser, Karin Halina KH; Groenen, Patrick J F PJ; de Haan, Hugoline G HG; Haerting, Johannes J; Harris, Tamara B TB; Heath, Andrew C AC; Heikkilä, Kauko K; Hofman, Albert A; Homuth, Georg G; Holliday, Elizabeth G EG; Hopper, John J; Hyppönen, Elina E; Jacobsson, Bo B; Jaddoe, Vincent W V VW; Johannesson, Magnus M; Jugessur, Astanand A; Kähönen, Mika M; Kajantie, Eero E; Kardia, Sharon L R SL; Keavney, Bernard B; Kolcic, Ivana I; Koponen, Päivikki P; Kovacs, Peter P; Kronenberg, Florian F; Kutalik, Zoltan Z; La Bianca, Martina M; Lachance, Genevieve G; Iacono, William G WG; Lai, Sandra S; Lehtimäki, Terho T; Liewald, David C DC; , ; Lindgren, Cecilia M CM; Liu, Yongmei Y; Luben, Robert R; Lucht, Michael M; Luoto, Riitta R; Magnus, Per P; Magnusson, Patrik K E PK; Martin, Nicholas G NG; McGue, Matt M; McQuillan, Ruth R; Medland, Sarah E SE; Meisinger, Christa C; Mellström, Dan D; Metspalu, Andres A; Traglia, Michela M; Milani, Lili L; Mitchell, Paul P; Montgomery, Grant W GW; Mook-Kanamori, Dennis D; de Mutsert, Renée R; Nohr, Ellen A EA; Ohlsson, Claes C; Olsen, Jørn J; Ong, Ken K KK; Paternoster, Lavinia L; Pattie, Alison A; Penninx, Brenda W J H BW; Perola, Markus M; Peyser, Patricia A PA; Pirastu, Mario M; Polasek, Ozren O; Power, Chris C; Kaprio, Jaakko J; Raffel, Leslie J LJ; Räikkönen, Katri K; Raitakari, Olli O; Ridker, Paul M PM; Ring, Susan M SM; Roll, Kathryn K; Rudan, Igor I; Ruggiero, Daniela D; Rujescu, Dan D; Salomaa, Veikko V; Schlessinger, David D; Schmidt, Helena H; Schmidt, Reinhold R; Schupf, Nicole N; Smit, Johannes J; Sorice, Rossella R; Spector, Tim D TD; Starr, John M JM; Stöckl, Doris D; Strauch, Konstantin K; Stumvoll, Michael M; Swertz, Morris A MA; Thorsteinsdottir, Unnur U; Thurik, A Roy AR; Timpson, Nicholas J NJ; Tung, Joyce Y JY; Uitterlinden, André G AG; Vaccargiu, Simona S; Viikari, Jorma J; Vitart, Veronique V; Völzke, Henry H; Vollenweider, Peter P; Vuckovic, Dragana D; Waage, Johannes J; Wagner, Gert G GG; Wang, Jie Jin JJ; Wareham, Nicholas J NJ; Weir, David R DR; Willemsen, Gonneke G; Willeit, Johann J; Wright, Alan F AF; Zondervan, Krina T KT; Stefansson, Kari K; Krueger, Robert F RF; Lee, James J JJ; Benjamin, Daniel J DJ; Cesarini, David D; Koellinger, Philipp D PD; den Hoed, Marcel M; Snieder, Harold H; Mills, Melinda C MC
Proteogenomics connects somatic mutations to signalling in breast cancer.
Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02
Variant appearance in text: CRTC2: M147V; rs11264680
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: CRTC2: M147V; rs11264680