Publications:

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Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology

Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE

Publication Date: 2022-06

Variant appearance in text: KMT2D: R3539W

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
• NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4

View BVdb publication page

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Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer.

Cancer Medicine

Weberpals, Johanne I JI; Pugh, Trevor J TJ; Marco-Casanova, Paola P; Goss, Glenwood D GD; Andrews Wright, Natalie N; Rath, Prisni P; Torchia, Jonathon J; Fortuna, Alexander A; Jones, Gemma N GN; Roudier, Martine P MP; Bernard, Laurence L; Lo, Bryan B; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; Hodgson, Darren D; Duciaume, Marc M; Howat, William J WJ; Lukashchuk, Natalia N; Lazic, Stanley E SE; Whelan, Doreen D; Sekhon, Harmanjatinder S HS

Publication Date: 2021-05

Variant appearance in text: KMT2D: R3539W

PubMed Link: 33811746

Variant Present in the following documents:

• CAM4-10-3045-s001.xlsx, sheet 2

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Somatic alterations and mutational burden are potential predictive factors for metachronous development of early gastric cancer.

Scientific Reports

Sakuta, Kazuhiro K; Sasaki, Yu Y; Abe, Yasuhiko Y; Sato, Hidenori H; Shoji, Masakuni M; Yaoita, Takao T; Yagi, Makoto M; Mizumoto, Naoko N; Onozato, Yusuke Y; Kon, Takashi T; Koseki, Ayumi A; Sato, Sonoko S; Murakami, Ryoko R; Miyano, Yuki Y; Ueno, Yoshiyuki Y

Publication Date: 2020-12-16

Variant appearance in text: KMT2D: R3539W

PubMed Link: 33328548

Variant Present in the following documents:

• 41598_2020_79195_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: KMT2D: R3539W

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: KMT2D: R3539W

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Genetic alterations of triple negative breast cancer by targeted next-generation sequencing and correlation with tumor morphology.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Weisman, Paul S PS; Ng, Charlotte K Y CK; Brogi, Edi E; Eisenberg, Rachel E RE; Won, Helen H HH; Piscuoglio, Salvatore S; De Filippo, Maria R MR; Ioris, Rafael R; Akram, Muzaffar M; Norton, Larry L; Weigelt, Britta B; Berger, Michael F MF; Reis-Filho, Jorge S JS; Wen, Hannah Y HY

Publication Date: 2016-05

Variant appearance in text: KMT2D: R3539W

PubMed Link: 26939876

Variant Present in the following documents:

• NIHMS752475-supplement-3.xlsx, sheet 1

View BVdb publication page

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