Publications:

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The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature

Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS

Publication Date: 2022-06

Variant appearance in text: NOTCH1: P1486L

PubMed Link: 35650444

Variant Present in the following documents:

• 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Development and evaluation of ActSeq: A targeted next-generation sequencing panel for clinical oncology use.

Plos One

Shi, Zonggao Z; Lopez, Jacqueline J; Kalliney, William W; Sutton, Bobbie B; Simpson, Joyce J; Maggert, Kevin K; Liu, Sheng S; Wan, Jun J; Stack, M Sharon MS

Publication Date: 2022

Variant appearance in text: NOTCH1: P1486L

PubMed Link: 35446881

Variant Present in the following documents:

• Main text
• pone.0266914.pdf

View BVdb publication page

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Recurrent oligodendroglioma with changed 1p/19q status.

Neuropathology : Official Journal Of The Japanese Society Of Neuropathology

Barresi, Valeria V; Mafficini, Andrea A; Calicchia, Martina M; Piredda, Maria Liliana ML; Musumeci, Angelo A; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2022-04

Variant appearance in text: NOTCH1: P1486L

PubMed Link: 35144313

Variant Present in the following documents:

• NEUP-42-160-s001.xlsx, sheet 1

View BVdb publication page

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False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One

Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM

Publication Date: 2019

Variant appearance in text: NOTCH1: 4457C>T; P1486L

PubMed Link: 31513681

Variant Present in the following documents:

• pone.0222535.s006.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: NOTCH1: 4457C>T; P1486L

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Frequency and distribution of Notch mutations in tumor cell lines.

Bmc Cancer

Mutvei, Anders Peter AP; Fredlund, Erik E; Lendahl, Urban U

Publication Date: 2015-04-25

Variant appearance in text: NOTCH1: 4457C>T; P1486L

PubMed Link: 25907971

Variant Present in the following documents:

• 12885_2015_1278_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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