Publications:

A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: APC: R463C

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

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Whole-exome sequencing identifies recurrent AKT1 mutations in sclerosing hemangioma of lung.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Jung, Seung-Hyun SH; Kim, Min Sung MS; Lee, Sung-Hak SH; Park, Hyun-Chun HC; Choi, Hyun Joo HJ; Maeng, Leeso L; Min, Ki Ouk KO; Kim, Jeana J; Park, Tae In TI; Shin, Ok Ran OR; Kim, Tae-Jung TJ; Xu, Haidong H; Lee, Kyo Young KY; Kim, Tae-Min TM; Song, Sang Yong SY; Lee, Charles C; Chung, Yeun-Jun YJ; Lee, Sug Hyung SH

Publication Date: 2016-09-20

Variant appearance in text: APC: R463C

PubMed Link: 27601661

Variant Present in the following documents:

• Main text

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Development and clinical application of an integrative genomic approach to personalized cancer therapy.

Genome Medicine

Uzilov, Andrew V AV; Ding, Wei W; Fink, Marc Y MY; Antipin, Yevgeniy Y; Brohl, Andrew S AS; Davis, Claire C; Lau, Chun Yee CY; Pandya, Chetanya C; Shah, Hardik H; Kasai, Yumi Y; Powell, James J; Micchelli, Mark M; Castellanos, Rafael R; Zhang, Zhongyang Z; Linderman, Michael M; Kinoshita, Yayoi Y; Zweig, Micol M; Raustad, Katie K; Cheung, Kakit K; Castillo, Diane D; Wooten, Melissa M; Bourzgui, Imane I; Newman, Leah C LC; Deikus, Gintaras G; Mathew, Bino B; Zhu, Jun J; Glicksberg, Benjamin S BS; Moe, Aye S AS; Liao, Jun J; Edelmann, Lisa L; Dudley, Joel T JT; Maki, Robert G RG; Kasarskis, Andrew A; Holcombe, Randall F RF; Mahajan, Milind M; Hao, Ke K; Reva, Boris B; Longtine, Janina J; Starcevic, Daniela D; Sebra, Robert R; Donovan, Michael J MJ; Li, Shuyu S; Schadt, Eric E EE; Chen, Rong R

Publication Date: 2016-06-01

Variant appearance in text: APC: R463C

PubMed Link: 27245685

Variant Present in the following documents:

• 13073_2016_313_MOESM1_ESM.xlsx, sheet 5

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: APC: R463C

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 9

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