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: DMD: 7657C>T; Arg2553Ter
Luce, Leonela L; Carcione, Micaela M; Mazzanti, Chiara C; Buonfiglio, Paula I PI; Dalamón, Viviana V; Mesa, Lilia L; Dubrovsky, Alberto A; Corderí, José J; Giliberto, Florencia F
Publication Date: 2021
Variant appearance in text: DMD: 7657C>T; Arg2553*
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.
Circulation. Genomic And Precision Medicine
Yamamoto, Tetsushi T; Awano, Hiroyuki H; Zhang, Zhujun Z; Sakuma, Mio M; Kitaaki, Shoko S; Matsumoto, Masaaki M; Nagai, Masashi M; Sato, Itsuko I; Imanishi, Takamitsu T; Hayashi, Nobuhide N; Matsuo, Masafumi M; Iijima, Kazumoto K; Saegusa, Jun J
Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.
Journal Of Neuromuscular Diseases
Servais, Laurent L; Montus, Marie M; Guiner, Caroline Le CL; Ben Yaou, Rabah R; Annoussamy, Mélanie M; Moraux, Amélie A; Hogrel, Jean-Yves JY; Seferian, Andreea M AM; Zehrouni, Karima K; Le Moing, Anne-Gaëlle AG; Gidaro, Teresa T; Vanhulle, Catherine C; Laugel, Vincent V; Butoianu, Nina N; Cuisset, Jean-Marie JM; Sabouraud, Pascal P; Cances, Claude C; Klein, Andrea A; Leturcq, France F; Moullier, Philippe P; Voit, Thomas T
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.
Nature Communications
Liu, Jinfeng J; McCleland, Mark M; Stawiski, Eric W EW; Gnad, Florian F; Mayba, Oleg O; Haverty, Peter M PM; Durinck, Steffen S; Chen, Ying-Jiun YJ; Klijn, Christiaan C; Jhunjhunwala, Suchit S; Lawrence, Michael M; Liu, Hanbin H; Wan, Yinan Y; Chopra, Vivek V; Yaylaoglu, Murat B MB; Yuan, Wenlin W; Ha, Connie C; Gilbert, Houston N HN; Reeder, Jens J; Pau, Gregoire G; Stinson, Jeremy J; Stern, Howard M HM; Manning, Gerard G; Wu, Thomas D TD; Neve, Richard M RM; de Sauvage, Frederic J FJ; Modrusan, Zora Z; Seshagiri, Somasekar S; Firestein, Ron R; Zhang, Zemin Z
MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.
Bmc Medical Genetics
Yang, Juan J; Li, Shao Y SY; Li, Ya Q YQ; Cao, Ji Q JQ; Feng, Shan W SW; Wang, Yan Y YY; Zhan, Yi X YX; Yu, Chang S CS; Chen, Fei F; Li, Jing J; Sun, Xiao F XF; Zhang, Cheng C
Publication Date: 2013-03-01
Variant appearance in text: DMD: 7657C>T; Arg2553X