Publications:

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Clonal hematopoiesis is not significantly associated with COVID-19 disease severity.

Blood

Zhou, Yifan Y; Shalhoub, Ruba R; Rogers, Stephanie N SN; Yu, Shiqin S; Gu, Muxin M; Fabre, Margarete A MA; Quiros, Pedro M PM; Shin, Tae-Hoon TH; Diangson, Arch A; Deng, Wenhan W; Anand, Shubha S; Lu, Wenhua W; Cullen, Matthew M; Godfrey, Anna L AL; Preller, Jacobus J; Hadjadj, Jerome J; Jouanguy, Emmanuelle E; Cobat, Aurélie A; Abel, Laurent L; Rieux-Laucat, Frederic F; Terrier, Benjamin B; Fischer, Alain A; Novik, Lara L; Gordon, Ingelise J IJ; Strom, Larisa L; Gaudinski, Martin R MR; Lisco, Andrea A; Sereti, Irini I; Gniadek, Thomas J TJ; Biondi, Andrea A; Bonfanti, Paolo P; Imberti, Luisa L; Dalgard, Clifton L CL; Zhang, Yu Y; Dobbs, Kerry K; Su, Helen C HC; Notarangelo, Luigi D LD; Wu, Colin O CO; Openshaw, Peter J M PJM; Semple, Malcolm G MG; Mallat, Ziad Z; Baillie, Kenneth K; Dunbar, Cynthia E CE; Vassiliou, George S GS

Publication Date: 2022-10-06

Variant appearance in text: KIT: H697D

PubMed Link: 35839449

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: KIT: H697D

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: KIT: H697D

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

View BVdb publication page

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Evolution of late-stage metastatic melanoma is dominated by aneuploidy and whole genome doubling.

Nature Communications

Vergara, Ismael A IA; Mintoff, Christopher P CP; Sandhu, Shahneen S; McIntosh, Lachlan L; Young, Richard J RJ; Wong, Stephen Q SQ; Colebatch, Andrew A; Cameron, Daniel L DL; Kwon, Julia Lai JL; Wolfe, Rory R; Peng, Angela A; Ellul, Jason J; Dou, Xuelin X; Fedele, Clare C; Boyle, Samantha S; Arnau, Gisela Mir GM; Raleigh, Jeanette J; Hatzimihalis, Athena A; Szeto, Pacman P; Mooi, Jennifer J; Widmer, Daniel S DS; Cheng, Phil F PF; Amann, Valerie V; Dummer, Reinhard R; Hayward, Nicholas N; Wilmott, James J; Scolyer, Richard A RA; Cho, Raymond J RJ; Bowtell, David D; Thorne, Heather H; Alsop, Kathryn K; Cordner, Stephen S; Woodford, Noel N; Leditschke, Jodie J; O'Brien, Patricia P; Dawson, Sarah-Jane SJ; McArthur, Grant A GA; Mann, Graham J GJ; Levesque, Mitchell P MP; Papenfuss, Anthony T AT; Shackleton, Mark M

Publication Date: 2021-03-04

Variant appearance in text: KIT: His697Asp

PubMed Link: 33664264

Variant Present in the following documents:

• 41467_2021_21576_MOESM1_ESM.pdf

View BVdb publication page

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: KIT: H697D

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: KIT: H697D

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: KIT: His697Asp

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-6.xlsx, sheet 1

View BVdb publication page

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