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: 225: R538H

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

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The mismatch repair system (mutS and mutL) in Acinetobacter baylyi ADP1.

Bmc Microbiology

Zhou, Hua H; Zhang, Linyue L; Xu, Qingye Q; Zhang, Linghong L; Yu, Yunsong Y; Hua, Xiaoting X

Publication Date: 2020-02-28

Variant appearance in text: 225: R538H

PubMed Link: 32111158

Variant Present in the following documents:

• Main text
• 12866_2020_Article_1729.pdf

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: 225: Arg538His

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

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De novo mutations in histone-modifying genes in congenital heart disease.

Nature

Zaidi, Samir S; Choi, Murim M; Wakimoto, Hiroko H; Ma, Lijiang L; Jiang, Jianming J; Overton, John D JD; Romano-Adesman, Angela A; Bjornson, Robert D RD; Breitbart, Roger E RE; Brown, Kerry K KK; Carriero, Nicholas J NJ; Cheung, Yee Him YH; Deanfield, John J; DePalma, Steve S; Fakhro, Khalid A KA; Glessner, Joseph J; Hakonarson, Hakon H; Italia, Michael J MJ; Kaltman, Jonathan R JR; Kaski, Juan J; Kim, Richard R; Kline, Jennie K JK; Lee, Teresa T; Leipzig, Jeremy J; Lopez, Alexander A; Mane, Shrikant M SM; Mitchell, Laura E LE; Newburger, Jane W JW; Parfenov, Michael M; Pe'er, Itsik I; Porter, George G; Roberts, Amy E AE; Sachidanandam, Ravi R; Sanders, Stephan J SJ; Seiden, Howard S HS; State, Mathew W MW; Subramanian, Sailakshmi S; Tikhonova, Irina R IR; Wang, Wei W; Warburton, Dorothy D; White, Peter S PS; Williams, Ismee A IA; Zhao, Hongyu H; Seidman, Jonathan G JG; Brueckner, Martina M; Chung, Wendy K WK; Gelb, Bruce D BD; Goldmuntz, Elizabeth E; Seidman, Christine E CE; Lifton, Richard P RP

Publication Date: 2013-06-13

Variant appearance in text: 225: R538H

PubMed Link: 23665959

Variant Present in the following documents:

• NIHMS483564-supplement-1.pdf

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