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: V654E

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: V654E

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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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs121913523

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KIT: V654E

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: V654E

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Chromosome copy number changes carry prognostic information independent of KIT/PDGFRA point mutations in gastrointestinal stromal tumors.

Bmc Medicine

Silva, Mara M; Veiga, Isabel I; Ribeiro, Franclim R FR; Vieira, Joana J; Pinto, Carla C; Pinheiro, Manuela M; Mesquita, Bárbara B; Santos, Catarina C; Soares, Marta M; Dinis, José J; Santos, Lúcio L; Lopes, Paula P; Afonso, Mariana M; Lopes, Carlos C; Teixeira, Manuel R MR

Publication Date: 2010-05-14

Variant appearance in text: KIT: Val654Glu

PubMed Link: 20470368

Variant Present in the following documents:

• Main text
• 1741-7015-8-26.pdf

View BVdb publication page

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