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
Contribution of common and rare genetic variants in CEP72 on vincristine-induced peripheral neuropathy in brain tumour patients.
British Journal Of Clinical Pharmacology
Klumpers, Marije J MJ; Brand, Annouk C A M ACAM; Hakobjan, Marina M; Gattuso, Giovanna G; Schiavello, Elisabetta E; Terenziani, Monica M; Massimino, Maura M; Gidding, Corrie E M CEM; Guchelaar, Henk-Jan HJ; Te Loo, D Maroeska W M DMWM; Coenen, Marieke J H MJH
Publication Date: 2022-07
Variant appearance in text: CEP72: Pro412Thr; rs12522955
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: CEP72: 1234C>A; P412T; rs12522955
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: CEP72: P412T; rs12522955
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12
Variant appearance in text: CEP72: 1234C>A; P412T; rs12522955
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: CEP72: P412T; rs12522955
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
Nature Genetics
Shrine, Nick N; Guyatt, Anna L AL; Erzurumluoglu, A Mesut AM; Jackson, Victoria E VE; Hobbs, Brian D BD; Melbourne, Carl A CA; Batini, Chiara C; Fawcett, Katherine A KA; Song, Kijoung K; Sakornsakolpat, Phuwanat P; Li, Xingnan X; Boxall, Ruth R; Reeve, Nicola F NF; Obeidat, Ma'en M; Zhao, Jing Hua JH; Wielscher, Matthias M; Weiss, Stefan S; Kentistou, Katherine A KA; Cook, James P JP; Sun, Benjamin B BB; Zhou, Jian J; Hui, Jennie J; Karrasch, Stefan S; Imboden, Medea M; Harris, Sarah E SE; Marten, Jonathan J; Enroth, Stefan S; Kerr, Shona M SM; Surakka, Ida I; Vitart, Veronique V; Lehtimäki, Terho T; Allen, Richard J RJ; Bakke, Per S PS; Beaty, Terri H TH; Bleecker, Eugene R ER; Bossé, Yohan Y; Brandsma, Corry-Anke CA; Chen, Zhengming Z; Crapo, James D JD; Danesh, John J; DeMeo, Dawn L DL; Dudbridge, Frank F; Ewert, Ralf R; Gieger, Christian C; Gulsvik, Amund A; Hansell, Anna L AL; Hao, Ke K; Hoffman, Joshua D JD; Hokanson, John E JE; Homuth, Georg G; Joshi, Peter K PK; Joubert, Philippe P; Langenberg, Claudia C; Li, Xuan X; Li, Liming L; Lin, Kuang K; Lind, Lars L; Locantore, Nicholas N; Luan, Jian'an J; Mahajan, Anubha A; Maranville, Joseph C JC; Murray, Alison A; Nickle, David C DC; Packer, Richard R; Parker, Margaret M MM; Paynton, Megan L ML; Porteous, David J DJ; Prokopenko, Dmitry D; Qiao, Dandi D; Rawal, Rajesh R; Runz, Heiko H; Sayers, Ian I; Sin, Don D DD; Smith, Blair H BH; Soler Artigas, María M; Sparrow, David D; Tal-Singer, Ruth R; Timmers, Paul R H J PRHJ; Van den Berge, Maarten M; Whittaker, John C JC; Woodruff, Prescott G PG; Yerges-Armstrong, Laura M LM; Troyanskaya, Olga G OG; Raitakari, Olli T OT; Kähönen, Mika M; Polašek, Ozren O; Gyllensten, Ulf U; Rudan, Igor I; Deary, Ian J IJ; Probst-Hensch, Nicole M NM; Schulz, Holger H; James, Alan L AL; Wilson, James F JF; Stubbe, Beate B; Zeggini, Eleftheria E; Jarvelin, Marjo-Riitta MR; Wareham, Nick N; Silverman, Edwin K EK; Hayward, Caroline C; Morris, Andrew P AP; Butterworth, Adam S AS; Scott, Robert A RA; Walters, Robin G RG; Meyers, Deborah A DA; Cho, Michael H MH; Strachan, David P DP; Hall, Ian P IP; Tobin, Martin D MD; Wain, Louise V LV; ,
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: CEP72: P412T; rs12522955
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11
Variant appearance in text: CEP72: P412T; rs12522955
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: CEP72: P412T; rs12522955