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
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: CCDC93: 683C>T; P228L; rs17512204
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; ,
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: CCDC93: P228L; rs17512204
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: CCDC93: 683C>T; Pro228Leu; rs17512204
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: CCDC93: P228L; rs17512204
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: CCDC93: P228L; rs17512204
MicroRNA related polymorphisms and breast cancer risk.
Plos One
Khan, Sofia S; Greco, Dario D; Michailidou, Kyriaki K; Milne, Roger L RL; Muranen, Taru A TA; Heikkinen, Tuomas T; Aaltonen, Kirsimari K; Dennis, Joe J; Bolla, Manjeet K MK; Liu, Jianjun J; Hall, Per P; Irwanto, Astrid A; Humphreys, Keith K; Li, Jingmei J; Czene, Kamila K; Chang-Claude, Jenny J; Hein, Rebecca R; Rudolph, Anja A; Seibold, Petra P; Flesch-Janys, Dieter D; Fletcher, Olivia O; Peto, Julian J; dos Santos Silva, Isabel I; Johnson, Nichola N; Gibson, Lorna L; Aitken, Zoe Z; Hopper, John L JL; Tsimiklis, Helen H; Bui, Minh M; Makalic, Enes E; Schmidt, Daniel F DF; Southey, Melissa C MC; Apicella, Carmel C; Stone, Jennifer J; Waisfisz, Quinten Q; Meijers-Heijboer, Hanne H; Adank, Muriel A MA; van der Luijt, Rob B RB; Meindl, Alfons A; Schmutzler, Rita K RK; Müller-Myhsok, Bertram B; Lichtner, Peter P; Turnbull, Clare C; Rahman, Nazneen N; Chanock, Stephen J SJ; Hunter, David J DJ; Cox, Angela A; Cross, Simon S SS; Reed, Malcolm W R MW; Schmidt, Marjanka K MK; Broeks, Annegien A; Van't Veer, Laura J LJ; Hogervorst, Frans B FB; Fasching, Peter A PA; Schrauder, Michael G MG; Ekici, Arif B AB; Beckmann, Matthias W MW; Bojesen, Stig E SE; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Flyger, Henrik H; Benitez, Javier J; Zamora, Pilar M PM; Perez, Jose I A JI; Haiman, Christopher A CA; Henderson, Brian E BE; Schumacher, Fredrick F; Le Marchand, Loic L; Pharoah, Paul D P PD; Dunning, Alison M AM; Shah, Mitul M; Luben, Robert R; Brown, Judith J; Couch, Fergus J FJ; Wang, Xianshu X; Vachon, Celine C; Olson, Janet E JE; Lambrechts, Diether D; Moisse, Matthieu M; Paridaens, Robert R; Christiaens, Marie-Rose MR; Guénel, Pascal P; Truong, Thérèse T; Laurent-Puig, Pierre P; Mulot, Claire C; Marme, Frederick F; Burwinkel, Barbara B; Schneeweiss, Andreas A; Sohn, Christof C; Sawyer, Elinor J EJ; Tomlinson, Ian I; Kerin, Michael J MJ; Miller, Nicola N; Andrulis, Irene L IL; Knight, Julia A JA; Tchatchou, Sandrine S; Mulligan, Anna Marie AM; Dörk, Thilo T; Bogdanova, Natalia V NV; Antonenkova, Natalia N NN; Anton-Culver, Hoda H; Darabi, Hatef H; Eriksson, Mikael M; Garcia-Closas, Montserrat M; Figueroa, Jonine J; Lissowska, Jolanta J; Brinton, Louise L; Devilee, Peter P; Tollenaar, Robert A E M RA; Seynaeve, Caroline C; van Asperen, Christi J CJ; Kristensen, Vessela N VN; , ; , ; Slager, Susan S; Toland, Amanda E AE; Ambrosone, Christine B CB; Yannoukakos, Drakoulis D; Lindblom, Annika A; Margolin, Sara S; Radice, Paolo P; Peterlongo, Paolo P; Barile, Monica M; Mariani, Paolo P; Hooning, Maartje J MJ; Martens, John W M JW; Collée, J Margriet JM; Jager, Agnes A; Jakubowska, Anna A; Lubinski, Jan J; Jaworska-Bieniek, Katarzyna K; Durda, Katarzyna K; Giles, Graham G GG; McLean, Catriona C; Brauch, Hiltrud H; Brüning, Thomas T; Ko, Yon-Dschun YD; , ; Brenner, Hermann H; Dieffenbach, Aida Karina AK; Arndt, Volker V; Stegmaier, Christa C; Swerdlow, Anthony A; Ashworth, Alan A; Orr, Nick N; Jones, Michael M; Simard, Jacques J; Goldberg, Mark S MS; Labrèche, France F; Dumont, Martine M; Winqvist, Robert R; Pylkäs, Katri K; Jukkola-Vuorinen, Arja A; Grip, Mervi M; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Mannermaa, Arto A; Hamann, Ute U; Chenevix-Trench, Georgia G; Blomqvist, Carl C; Aittomäki, Kristiina K; Easton, Douglas F DF; Nevanlinna, Heli H
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: CCDC93: P228L; rs17512204
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
Publication Date: 2014
Variant appearance in text: CCDC93: P228L; rs17512204
Discovery and refinement of loci associated with lipid levels.
Nature Genetics
Willer, Cristen J CJ; Schmidt, Ellen M EM; Sengupta, Sebanti S; Peloso, Gina M GM; Gustafsson, Stefan S; Kanoni, Stavroula S; Ganna, Andrea A; Chen, Jin J; Buchkovich, Martin L ML; Mora, Samia S; Beckmann, Jacques S JS; Bragg-Gresham, Jennifer L JL; Chang, Hsing-Yi HY; Demirkan, Ayşe A; Den Hertog, Heleen M HM; Do, Ron R; Donnelly, Louise A LA; Ehret, Georg B GB; Esko, Tõnu T; Feitosa, Mary F MF; Ferreira, Teresa T; Fischer, Krista K; Fontanillas, Pierre P; Fraser, Ross M RM; Freitag, Daniel F DF; Gurdasani, Deepti D; Heikkilä, Kauko K; Hyppönen, Elina E; Isaacs, Aaron A; Jackson, Anne U AU; Johansson, Åsa Å; Johnson, Toby T; Kaakinen, Marika M; Kettunen, Johannes J; Kleber, Marcus E ME; Li, Xiaohui X; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; Magnusson, Patrik K E PKE; Mangino, Massimo M; Mihailov, Evelin E; Montasser, May E ME; Müller-Nurasyid, Martina M; Nolte, Ilja M IM; O'Connell, Jeffrey R JR; Palmer, Cameron D CD; Perola, Markus M; Petersen, Ann-Kristin AK; Sanna, Serena S; Saxena, Richa R; Service, Susan K SK; Shah, Sonia S; Shungin, Dmitry D; Sidore, Carlo C; Song, Ci C; Strawbridge, Rona J RJ; Surakka, Ida I; Tanaka, Toshiko T; Teslovich, Tanya M TM; Thorleifsson, Gudmar G; Van den Herik, Evita G EG; Voight, Benjamin F BF; Volcik, Kelly A KA; Waite, Lindsay L LL; Wong, Andrew A; Wu, Ying Y; Zhang, Weihua W; Absher, Devin D; Asiki, Gershim G; Barroso, Inês I; Been, Latonya F LF; Bolton, Jennifer L JL; Bonnycastle, Lori L LL; Brambilla, Paolo P; Burnett, Mary S MS; Cesana, Giancarlo G; Dimitriou, Maria M; Doney, Alex S F ASF; Döring, Angela A; Elliott, Paul P; Epstein, Stephen E SE; Ingi Eyjolfsson, Gudmundur G; Gigante, Bruna B; Goodarzi, Mark O MO; Grallert, Harald H; Gravito, Martha L ML; Groves, Christopher J CJ; Hallmans, Göran G; Hartikainen, Anna-Liisa AL; Hayward, Caroline C; Hernandez, Dena D; Hicks, Andrew A AA; Holm, Hilma H; Hung, Yi-Jen YJ; Illig, Thomas T; Jones, Michelle R MR; Kaleebu, Pontiano P; Kastelein, John J P JJP; Khaw, Kay-Tee KT; Kim, Eric E; Klopp, Norman N; Komulainen, Pirjo P; Kumari, Meena M; Langenberg, Claudia C; Lehtimäki, Terho T; Lin, Shih-Yi SY; Lindström, Jaana J; Loos, Ruth J F RJF; Mach, François F; McArdle, Wendy L WL; Meisinger, Christa C; Mitchell, Braxton D BD; Müller, Gabrielle G; Nagaraja, Ramaiah R; Narisu, Narisu N; Nieminen, Tuomo V M TVM; Nsubuga, Rebecca N RN; Olafsson, Isleifur I; Ong, Ken K KK; Palotie, Aarno A; Papamarkou, Theodore T; Pomilla, Cristina C; Pouta, Anneli A; Rader, Daniel J DJ; Reilly, Muredach P MP; Ridker, Paul M PM; Rivadeneira, Fernando F; Rudan, Igor I; Ruokonen, Aimo A; Samani, Nilesh N; Scharnagl, Hubert H; Seeley, Janet J; Silander, Kaisa K; Stančáková, Alena A; Stirrups, Kathleen K; Swift, Amy J AJ; Tiret, Laurence L; Uitterlinden, Andre G AG; van Pelt, L Joost LJ; Vedantam, Sailaja S; Wainwright, Nicholas N; Wijmenga, Cisca C; Wild, Sarah H SH; Willemsen, Gonneke G; Wilsgaard, Tom T; Wilson, James F JF; Young, Elizabeth H EH; Zhao, Jing Hua JH; Adair, Linda S LS; Arveiler, Dominique D; Assimes, Themistocles L TL; Bandinelli, Stefania S; Bennett, Franklyn F; Bochud, Murielle M; Boehm, Bernhard O BO; Boomsma, Dorret I DI; Borecki, Ingrid B IB; Bornstein, Stefan R SR; Bovet, Pascal P; Burnier, Michel M; Campbell, Harry H; Chakravarti, Aravinda A; Chambers, John C JC; Chen, Yii-Der Ida YI; Collins, Francis S FS; Cooper, Richard S RS; Danesh, John J; Dedoussis, George G; de Faire, Ulf U; Feranil, Alan B AB; Ferrières, Jean J; Ferrucci, Luigi L; Freimer, Nelson B NB; Gieger, Christian C; Groop, Leif C LC; Gudnason, Vilmundur V; Gyllensten, Ulf U; Hamsten, Anders A; Harris, Tamara B TB; Hingorani, Aroon A; Hirschhorn, Joel N JN; Hofman, Albert A; Hovingh, G Kees GK; Hsiung, Chao Agnes CA; Humphries, Steve E SE; Hunt, Steven C SC; Hveem, Kristian K; Iribarren, Carlos C; Järvelin, Marjo-Riitta MR; Jula, Antti A; Kähönen, Mika M; Kaprio, Jaakko J; Kesäniemi, Antero A; Kivimaki, Mika M; Kooner, Jaspal S JS; Koudstaal, Peter J PJ; Krauss, Ronald M RM; Kuh, Diana D; Kuusisto, Johanna J; Kyvik, Kirsten O KO; Laakso, Markku M; Lakka, Timo A TA; Lind, Lars L; Lindgren, Cecilia M CM; Martin, Nicholas G NG; März, Winfried W; McCarthy, Mark I MI; McKenzie, Colin A CA; Meneton, Pierre P; Metspalu, Andres A; Moilanen, Leena L; Morris, Andrew D AD; Munroe, Patricia B PB; Njølstad, Inger I; Pedersen, Nancy L NL; Power, Chris C; Pramstaller, Peter P PP; Price, Jackie F JF; Psaty, Bruce M BM; Quertermous, Thomas T; Rauramaa, Rainer R; Saleheen, Danish D; Salomaa, Veikko V; Sanghera, Dharambir K DK; Saramies, Jouko J; Schwarz, Peter E H PEH; Sheu, Wayne H-H WH; Shuldiner, Alan R AR; Siegbahn, Agneta A; Spector, Tim D TD; Stefansson, Kari K; Strachan, David P DP; Tayo, Bamidele O BO; Tremoli, Elena E; Tuomilehto, Jaakko J; Uusitupa, Matti M; van Duijn, Cornelia M CM; Vollenweider, Peter P; Wallentin, Lars L; Wareham, Nicholas J NJ; Whitfield, John B JB; Wolffenbuttel, Bruce H R BHR; Ordovas, Jose M JM; Boerwinkle, Eric E; Palmer, Colin N A CNA; Thorsteinsdottir, Unnur U; Chasman, Daniel I DI; Rotter, Jerome I JI; Franks, Paul W PW; Ripatti, Samuli S; Cupples, L Adrienne LA; Sandhu, Manjinder S MS; Rich, Stephen S SS; Boehnke, Michael M; Deloukas, Panos P; Kathiresan, Sekar S; Mohlke, Karen L KL; Ingelsson, Erik E; Abecasis, Gonçalo R GR; ,
Publication Date: 2013-11
Variant appearance in text: CCDC93: Pro228Leu; rs17512204