Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: APC: R71H; rs750503329

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Single-cell transcriptome analyses reveal distinct gene expression signatures of severe COVID-19 in the presence of clonal hematopoiesis.

Experimental & Molecular Medicine

Choi, Baekgyu B; Kang, Chang Kyung CK; Park, Seongwan S; Lee, Dohoon D; Lee, Andrew J AJ; Ko, Yuji Y; Kang, Suk-Jo SJ; Kang, Kyuho K; Kim, Sun S; Koh, Youngil Y; Jung, Inkyung I

Publication Date: 2022-10

Variant appearance in text: APC: 212G>A; Arg71His

PubMed Link: 36229591

Variant Present in the following documents:

• 12276_2022_866_MOESM2_ESM.xls, sheet 2

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Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Cell Reports

Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ

Publication Date: 2021-11-16

Variant appearance in text: APC: 212G>A; Arg71His

PubMed Link: 34788622

Variant Present in the following documents:

• NIHMS1757901-supplement-2.xlsx, sheet 3

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: APC: R71H

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

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Comprehensive screening of target molecules by next-generation sequencing in patients with malignant solid tumors: guiding entry into phase I clinical trials.

Molecular Cancer

Tanabe, Yuko Y; Ichikawa, Hitoshi H; Kohno, Takashi T; Yoshida, Hiroshi H; Kubo, Takashi T; Kato, Mamoru M; Iwasa, Satoru S; Ochiai, Atsushi A; Yamamoto, Noboru N; Fujiwara, Yasuhiro Y; Tamura, Kenji K

Publication Date: 2016-11-16

Variant appearance in text: APC: R71H

PubMed Link: 27852271

Variant Present in the following documents:

• 12943_2016_553_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page