Publications:

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Relapse timing is associated with distinct evolutionary dynamics in DLBCL.

Medrxiv : The Preprint Server For Health Sciences

Hilton, Laura K LK; Ngu, Henry S HS; Collinge, Brett B; Dreval, Kostiantyn K; Ben-Neriah, Susana S; Rushton, Christopher K CK; Wong, Jasper C H JCH; Cruz, Manuela M; Roth, Andrew A; Boyle, Merrill M; Meissner, Barbara B; Slack, Graham W GW; Farinha, Pedro P; Craig, Jeffrey W JW; Gerrie, Alina S AS; Freeman, Ciara L CL; Villa, Diego D; Crump, Michael M; Shepherd, Lois L; Hay, Annette E AE; Kuruvilla, John J; Savage, Kerry J KJ; Kridel, Robert R; Karsan, Aly A; Marra, Marco A MA; Sehn, Laurie H LH; Steidl, Christian C; Morin, Ryan D RD; Scott, David W DW

Publication Date: 2023-03-08

Variant appearance in text: NOTCH1: 5273G>A; R1758H; rs373841359

PubMed Link: 36945587

Variant Present in the following documents:

• media-1.xlsx, sheet 14

View BVdb publication page

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Single-cell analysis reveals the chemotherapy-induced cellular reprogramming and novel therapeutic targets in relapsed/refractory acute myeloid leukemia.

Leukemia

Li, Kening K; Du, Yuxin Y; Cai, Yun Y; Liu, Wenjie W; Lv, Yan Y; Huang, Bin B; Zhang, Lishen L; Wang, Zhi Z; Liu, Ping P; Sun, Qian Q; Li, Ning N; Zhu, Mengyan M; Bosco, Bakwatanisa B; Li, Liangyu L; Wu, Wei W; Wu, Lingxiang L; Li, Jianyong J; Wang, Qianghu Q; Hong, Ming M; Qian, Sixuan S

Publication Date: 2022-12-21

Variant appearance in text: NOTCH1: 5273G>A; R1758H

PubMed Link: 36543880

Variant Present in the following documents:

• 41375_2022_1789_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood

Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD

Publication Date: 2022-10-06

Variant appearance in text: NOTCH1: Arg1758His; rs373841359

PubMed Link: 36201743

Variant Present in the following documents:

• BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6

View BVdb publication page

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Chronological genome and single-cell transcriptome integration characterizes the evolutionary process of adult T cell leukemia-lymphoma.

Nature Communications

Yamagishi, Makoto M; Kubokawa, Miyuki M; Kuze, Yuta Y; Suzuki, Ayako A; Yokomizo, Akari A; Kobayashi, Seiichiro S; Nakashima, Makoto M; Makiyama, Junya J; Iwanaga, Masako M; Fukuda, Takahiro T; Watanabe, Toshiki T; Suzuki, Yutaka Y; Uchimaru, Kaoru K

Publication Date: 2021-08-10

Variant appearance in text: NOTCH1: R1758H

PubMed Link: 34376672

Variant Present in the following documents:

• 41467_2021_25101_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Esc Heart Failure

Kiefer, Katharina C KC; Cremer, Sebastian S; Pardali, Evangelia E; Assmus, Birgit B; Abou-El-Ardat, Khalil K; Kirschbaum, Klara K; Dorsheimer, Lena L; Rasper, Tina T; Berkowitsch, Alexander A; Serve, Hubert H; Dimmeler, Stefanie S; Zeiher, Andreas M AM; Rieger, Michael A MA

Publication Date: 2021-06

Variant appearance in text: NOTCH1: 5273G>A; R1758H

PubMed Link: 33779075

Variant Present in the following documents:

• EHF2-8-1873-s002.xlsx, sheet 1

View BVdb publication page

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Single-cell map of diverse immune phenotypes in the acute myeloid leukemia microenvironment.

Biomarker Research

Guo, Rongqun R; Lü, Mengdie M; Cao, Fujiao F; Wu, Guanghua G; Gao, Fengcai F; Pang, Haili H; Li, Yadan Y; Zhang, Yinyin Y; Xing, Haizhou H; Liang, Chunyan C; Lyu, Tianxin T; Du, Chunyan C; Li, Yingmei Y; Guo, Rong R; Xie, Xinsheng X; Li, Wei W; Liu, Delong D; Song, Yongping Y; Jiang, Zhongxing Z

Publication Date: 2021-03-01

Variant appearance in text: NOTCH1: 5273G>A; R1758H

PubMed Link: 33648605

Variant Present in the following documents:

• 40364_2021_265_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: NOTCH1: 5273G>A; R1758H

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: NOTCH1: 5273G>A

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM19_ESM.xlsx, sheet 1

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: NOTCH1: 5273G>A; Arg1758His; rs373841359

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s6.xlsx, sheet 8

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: NOTCH1: 5273G>A; Arg1758His; rs373841359

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 6

View BVdb publication page

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Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Pentsova, Elena I EI; Shah, Ronak H RH; Tang, Jiabin J; Boire, Adrienne A; You, Daoqi D; Briggs, Samuel S; Omuro, Antonio A; Lin, Xuling X; Fleisher, Martin M; Grommes, Christian C; Panageas, Katherine S KS; Meng, Fanli F; Selcuklu, S Duygu SD; Ogilvie, Shahiba S; Distefano, Natalie N; Shagabayeva, Larisa L; Rosenblum, Marc M; DeAngelis, Lisa M LM; Viale, Agnes A; Mellinghoff, Ingo K IK; Berger, Michael F MF

Publication Date: 2016-07-10

Variant appearance in text: NOTCH1: R1758H

PubMed Link: 27161972

Variant Present in the following documents:

• Main text
• JCO666487.pdf

View BVdb publication page

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