Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: CREBBP: 4991G>A; Arg1664His
Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.
Blood
Ansari-Pour, Naser N; Samur, Mehmet K MK; Flynt, Erin E; Gooding, Sarah S; Towfic, Fadi F; Stong, Nicholas N; Ortiz Estevez, Maria M; Mavrommatis, Konstantinos K; Walker, Brian A BA; Morgan, Gareth J GJ; Munshi, Nikhil C NC; Avet Loiseau, Herve H; Thakurta, Anjan A
Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.
Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17
Variant appearance in text: CREBBP: 4991G>A; Arg1664His
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.
Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022
Variant appearance in text: CREBBP: 4991G>A; R1664H
The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.
Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29
Variant appearance in text: CREBBP: 4991G>A; Arg1664His
Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.
Blood Advances
Crouch, Simon S; Painter, Daniel D; Barrans, Sharon L SL; Roman, Eve E; Beer, Philip A PA; Cooke, Susanna L SL; Glover, Paul P; Van Hoppe, Suzan J L SJL; Webster, Nichola N; Lacy, Stuart E SE; Ruiz, Camilo C; Campbell, Peter J PJ; Hodson, Daniel J DJ; Patmore, Russell R; Burton, Cathy C; Smith, Alexandra A; Tooze, Reuben M RM
Quantifying single-cell ERK dynamics in colorectal cancer organoids reveals EGFR as an amplifier of oncogenic MAPK pathway signalling.
Nature Cell Biology
Ponsioen, Bas B; Post, Jasmin B JB; Buissant des Amorie, Julian R JR; Laskaris, Dimitrios D; van Ineveld, Ravian L RL; Kersten, Simone S; Bertotti, Andrea A; Sassi, Francesco F; Sipieter, François F; Cappe, Benjamin B; Mertens, Sander S; Verlaan-Klink, Ingrid I; Boj, Sylvia F SF; Vries, Rob G J RGJ; Rehmann, Holger H; Vandenabeele, Peter P; Riquet, Franck B FB; Trusolino, Livio L; Bos, Johannes L JL; Snippert, Hugo J G HJG
The transcriptional landscape of Shh medulloblastoma.
Nature Communications
Skowron, Patryk P; Farooq, Hamza H; Cavalli, Florence M G FMG; Morrissy, A Sorana AS; Ly, Michelle M; Hendrikse, Liam D LD; Wang, Evan Y EY; Djambazian, Haig H; Zhu, Helen H; Mungall, Karen L KL; Trinh, Quang M QM; Zheng, Tina T; Dai, Shizhong S; Stucklin, Ana S Guerreiro ASG; Vladoiu, Maria C MC; Fong, Vernon V; Holgado, Borja L BL; Nor, Carolina C; Wu, Xiaochong X; Abd-Rabbo, Diala D; Bérubé, Pierre P; Wang, Yu Chang YC; Luu, Betty B; Suarez, Raul A RA; Rastan, Avesta A; Gillmor, Aaron H AH; Lee, John J Y JJY; Zhang, Xiao Yun XY; Daniels, Craig C; Dirks, Peter P; Malkin, David D; Bouffet, Eric E; Tabori, Uri U; Loukides, James J; Doz, François P FP; Bourdeaut, Franck F; Delattre, Olivier O OO; Masliah-Planchon, Julien J; Ayrault, Olivier O; Kim, Seung-Ki SK; Meyronet, David D; Grajkowska, Wieslawa A WA; Carlotti, Carlos G CG; de Torres, Carmen C; Mora, Jaume J; Eberhart, Charles G CG; Van Meir, Erwin G EG; Kumabe, Toshihiro T; French, Pim J PJ; Kros, Johan M JM; Jabado, Nada N; Lach, Boleslaw B; Pollack, Ian F IF; Hamilton, Ronald L RL; Rao, Amulya A Nageswara AAN; Giannini, Caterina C; Olson, James M JM; Bognár, László L; Klekner, Almos A; Zitterbart, Karel K; Phillips, Joanna J JJ; Thompson, Reid C RC; Cooper, Michael K MK; Rubin, Joshua B JB; Liau, Linda M LM; Garami, Miklós M; Hauser, Peter P; Li, Kay Ka Wai KKW; Ng, Ho-Keung HK; Poon, Wai Sang WS; Yancey Gillespie, G G; Chan, Jennifer A JA; Jung, Shin S; McLendon, Roger E RE; Thompson, Eric M EM; Zagzag, David D; Vibhakar, Rajeev R; Ra, Young Shin YS; Garre, Maria Luisa ML; Schüller, Ulrich U; Shofuda, Tomoko T; Faria, Claudia C CC; López-Aguilar, Enrique E; Zadeh, Gelareh G; Hui, Chi-Chung CC; Ramaswamy, Vijay V; Bailey, Swneke D SD; Jones, Steven J SJ; Mungall, Andrew J AJ; Moore, Richard A RA; Calarco, John A JA; Stein, Lincoln D LD; Bader, Gary D GD; Reimand, Jüri J; Ragoussis, Jiannis J; Weiss, William A WA; Marra, Marco A MA; Suzuki, Hiromichi H; Taylor, Michael D MD
Unforeseen clonal evolution of tumor cell population in recurrent and metastatic dermatofibrosarcoma protuberans.
Plos One
Oh, Ensel E; Jeong, Hae Min HM; Kwon, Mi Jeong MJ; Ha, Sang Yun SY; Park, Hyung Kyu HK; Song, Ji-Young JY; Kim, Yu Jin YJ; Choi, Jong-Sun JS; Lee, Eun Hee EH; Lee, Jeeyun J; Choi, Yoon-La YL; Shin, Young Kee YK
Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
International Journal Of Molecular Sciences
Yoo, Hee Jeong HJ; Kim, Kyung K; Kim, In Hyang IH; Rho, Seong-Hwan SH; Park, Jong-Eun JE; Lee, Ki Young KY; Kim, Soon Ae SA; Choi, Byung Yoon BY; Kim, Namshin N
Publication Date: 2015-03-11
Variant appearance in text: CREBBP: 4991G>A; Arg1664His
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
American Journal Of Human Genetics
Roelfsema, Jeroen H JH; White, Stefan J SJ; Ariyürek, Yavuz Y; Bartholdi, Deborah D; Niedrist, Dunja D; Papadia, Francesco F; Bacino, Carlos A CA; den Dunnen, Johan T JT; van Ommen, Gert-Jan B GJ; Breuning, Martijn H MH; Hennekam, Raoul C RC; Peters, Dorien J M DJ