Publications:

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Deep analysis of neuroblastoma core regulatory circuitries using online databases and integrated bioinformatics shows their pan-cancer roles as prognostic predictors.

Discover. Oncology

Jahangiri, Leila L; Pucci, Perla P; Ishola, Tala T; Pereira, Joao J; Cavanagh, Megan L ML; Turner, Suzanne D SD

Publication Date: 2021-11-29

Variant appearance in text: FBN1: R457C

PubMed Link: 35201514

Variant Present in the following documents:

• 12672_2021_452_MOESM1_ESM.xlsx, sheet 1

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The histologic phenotype of lung cancers is associated with transcriptomic features rather than genomic characteristics.

Nature Communications

Tang, Ming M; Abbas, Hussein A HA; Negrao, Marcelo V MV; Ramineni, Maheshwari M; Hu, Xin X; Hubert, Shawna Marie SM; Fujimoto, Junya J; Reuben, Alexandre A; Varghese, Susan S; Zhang, Jianhua J; Li, Jun J; Chow, Chi-Wan CW; Mao, Xizeng X; Song, Xingzhi X; Lee, Won-Chul WC; Wu, Jia J; Little, Latasha L; Gumbs, Curtis C; Behrens, Carmen C; Moran, Cesar C; Weissferdt, Annikka A; Lee, J Jack JJ; Sepesi, Boris B; Swisher, Stephen S; Cheng, Chao C; Kurie, Jonathan J; Gibbons, Don D; Heymach, John V JV; Wistuba, Ignacio I II; Futreal, P Andrew PA; Kalhor, Neda N; Zhang, Jianjun J

Publication Date: 2021-12-06

Variant appearance in text: FBN1: R457C

PubMed Link: 34873156

Variant Present in the following documents:

• 41467_2021_27341_MOESM10_ESM.xlsx, sheet 2

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The histologic phenotype of lung cancers is associated with transcriptomic features rather than genomic characteristics.

Nature Communications

Tang, Ming M; Abbas, Hussein A HA; Negrao, Marcelo V MV; Ramineni, Maheshwari M; Hu, Xin X; Hubert, Shawna Marie SM; Fujimoto, Junya J; Reuben, Alexandre A; Varghese, Susan S; Zhang, Jianhua J; Li, Jun J; Chow, Chi-Wan CW; Mao, Xizeng X; Song, Xingzhi X; Lee, Won-Chul WC; Wu, Jia J; Little, Latasha L; Gumbs, Curtis C; Behrens, Carmen C; Moran, Cesar C; Weissferdt, Annikka A; Lee, J Jack JJ; Sepesi, Boris B; Swisher, Stephen S; Cheng, Chao C; Kurie, Jonathan J; Gibbons, Don D; Heymach, John V JV; Wistuba, Ignacio I II; Futreal, P Andrew PA; Kalhor, Neda N; Zhang, Jianjun J

Publication Date: 2021-12-06

Variant appearance in text: FBN1: R457C

PubMed Link: 34873156

Variant Present in the following documents:

• 41467_2021_27341_MOESM10_ESM.xlsx, sheet 2

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The mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer.

Journal Of Applied Genetics

Mika, Justyna J; Łabaj, Wojciech W; Chekan, Mykola M; Abramowicz, Agata A; Pietrowska, Monika M; Polański, Andrzej A; Widłak, Piotr P

Publication Date: 2021-02

Variant appearance in text: FBN1: R457C

PubMed Link: 33222100

Variant Present in the following documents:

• 13353_2020_594_MOESM2_ESM.xlsx, sheet 1

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Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Npj Genomic Medicine

Cheema, Huma H; Bertoli-Avella, Aida M AM; Skrahina, Volha V; Anjum, Muhammad Nadeem MN; Waheed, Nadia N; Saeed, Anjum A; Beetz, Christian C; Perez-Lopez, Jordi J; Rocha, Maria Eugenia ME; Alawbathani, Salem S; Pereira, Catarina C; Hovakimyan, Marina M; Patric, Irene Rosita Pia IRP; Paknia, Omid O; Ameziane, Najim N; Cozma, Claudia C; Bauer, Peter P; Rolfs, Arndt A

Publication Date: 2020

Variant appearance in text: FBN1: 1369C>T; Arg457*

PubMed Link: 33083013

Variant Present in the following documents:

• 41525_2020_150_MOESM1_ESM.pdf

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Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations.

Nature Communications

Brady, Samuel W SW; Liu, Yanling Y; Ma, Xiaotu X; Gout, Alexander M AM; Hagiwara, Kohei K; Zhou, Xin X; Wang, Jian J; Macias, Michael M; Chen, Xiaolong X; Easton, John J; Mulder, Heather L HL; Rusch, Michael M; Wang, Lu L; Nakitandwe, Joy J; Lei, Shaohua S; Davis, Eric M EM; Naranjo, Arlene A; Cheng, Cheng C; Maris, John M JM; Downing, James R JR; Cheung, Nai-Kong V NV; Hogarty, Michael D MD; Dyer, Michael A MA; Zhang, Jinghui J

Publication Date: 2020-10-14

Variant appearance in text: FBN1: R457C

PubMed Link: 33056981

Variant Present in the following documents:

• 41467_2020_18987_MOESM7_ESM.xlsx, sheet 1

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: FBN1: R457C

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 32

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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

Publication Date: 2016-07-28

Variant appearance in text: FBN1: 1369C>T; R457C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics

Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ

Publication Date: 2013-05

Variant appearance in text: FBN1: 1369C>T; R457C

PubMed Link: 23525077

Variant Present in the following documents:

• NIHMS474888-supplement-6.xlsx, sheet 1

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: FBN1: 1369C>T; R457C

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-3.xlsx, sheet 1

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