Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: NOTCH1: 7541_7542delCT; P2514fs

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
• 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3

View BVdb publication page

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Research Topic: Measurable Residual Disease in Hematologic Malignancies. Can digital droplet PCR improve measurable residual disease monitoring in chronic lymphoid malignancies?

Frontiers In Oncology

Assanto, Giovanni Manfredi GM; Del Giudice, Ilaria I; Della Starza, Irene I; Soscia, Roberta R; Cavalli, Marzia M; Cola, Mattia M; Bellomarino, Vittorio V; Di Trani, Mariangela M; Guarini, Anna A; Foà, Robin R

Publication Date: 2023

Variant appearance in text: NOTCH1: 7541_7542delCT

PubMed Link: 36998457

Variant Present in the following documents:

• Main text
• fonc-13-1152467.pdf

View BVdb publication page

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Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Cancer Medicine

Gao, Fan F; Hu, Kai K; Zheng, Peihao P; Shi, Hui H; Ke, Xiaoyan X

Publication Date: 2023-03-27

Variant appearance in text: NOTCH1: 7541_7542del; P2514Rfs*4

PubMed Link: 36971051

Variant Present in the following documents:

• CAM4-12-10267-s001.xlsx, sheet 1

View BVdb publication page

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Characterization of clonal immunoglobulin heavy V-D-J gene rearrangements in Chinese patients with chronic lymphocytic leukemia: Clinical features and molecular profiles.

Frontiers In Oncology

Deng, Xinyue X; Zhang, Meilan M; Wang, Jiachen J; Zhou, Xiaoxi X; Xiao, Min M

Publication Date: 2023

Variant appearance in text: NOTCH1: P2514Rfs*4

PubMed Link: 36874132

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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A Phenogenetic Axis that Modulates Clinical Manifestation and Predicts Treatment Outcome in Primary Myeloid Neoplasms.

Cancer Research Communications

Shen, Qiujin Q; Feng, Yahui Y; Gong, Xiaowen X; Jia, Yujiao Y; Gao, Qingyan Q; Jiao, Xiaokang X; Qi, Saibing S; Liu, Xueou X; Wei, Hui H; Huang, Bingqing B; Zhao, Ningning N; Song, Xiaoqiang X; Ma, Yueshen Y; Liang, Shihao S; Zhang, Donglei D; Qin, Li L; Wang, Ying Y; Qu, Shiqiang S; Zou, Yao Y; Chen, Yumei Y; Guo, Ye Y; Yi, Shuhua S; An, Gang G; Jiao, Zengtao Z; Zhang, Song S; Li, Linfeng L; Yan, Jun J; Wang, Huijun H; Song, Zhen Z; Mi, Yingchang Y; Qiu, Lugui L; Zhu, Xiaofan X; Wang, Jianxiang J; Xiao, Zhijian Z; Chen, Junren J

Publication Date: 2022-04

Variant appearance in text: NOTCH1: 7541_7542del; P2514RfsX4

PubMed Link: 36873623

Variant Present in the following documents:

• crc-21-0194-s05.xlsx, sheet 1

View BVdb publication page

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Spectrum and clinical features of gene mutations in Chinese pediatric acute lymphoblastic leukemia.

Bmc Pediatrics

Shen, Diying D; Liu, Lixia L; Xu, Xiaojun X; Song, Hua H; Zhang, Jingying J; Xu, Weiqun W; Zhao, Fenying F; Liang, Juan J; Liao, Chan C; Wang, Yan Y; Xia, Tian T; Wang, Chengcheng C; Lou, Feng F; Cao, Shanbo S; Qin, Jiayue J; Tang, Yongmin Y

Publication Date: 2023-02-04

Variant appearance in text: NOTCH1: 7541_7542del; P2514fs

PubMed Link: 36739388

Variant Present in the following documents:

• 12887_2023_3856_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Case report: Chronic lymphocytic leukemia/small lymphocytic lymphoma and monomorphic epitheliotropic intestinal T-cell lymphoma: A composite lymphoma.

Pathology Oncology Research : Por

Zhang, Bing B; Zhang, Yangyang Y; Li, Quan Q; Jiang, Qingjun Q; Chu, Wei W; Gong, Haifeng H; Li, Ruyuan R; Ji, Hong H

Publication Date: 2022

Variant appearance in text: NOTCH1: 7541_7542del; P2514Rfs*4; rs763016003

PubMed Link: 36567979

Variant Present in the following documents:

• Main text
• pore-28-1610653.pdf

View BVdb publication page

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Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.

Frontiers In Oncology

Guan, Tao T; Zhang, Min M; Liu, Xiaolan X; Li, Jing J; Xin, Beibei B; Ren, Yanxin Y; Yang, Yuchao Y; Wang, Hui H; Zhao, Mengjing M; Huang, Yunpeng Y; Guo, Xiaojing X; Du, Jun J; Qian, Wenbin W; Su, Liping L

Publication Date: 2022

Variant appearance in text: NOTCH1: 7541_7542del; P2514fs

PubMed Link: 36465410

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 3

View BVdb publication page

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Prognostic correlation of NOTCH1 and SF3B1 mutations with chromosomal abnormalities in chronic lymphocytic leukemia patients.

Cancer Reports (Hoboken, N.J.)

Sadria, Reza R; Motamed, Nasrin N; Saberi Anvar, Mohammad M; Mehrabani Yeganeh, Hassan H; Poopak, Behzad B

Publication Date: 2022-11-21

Variant appearance in text: NOTCH1: P2514Rfs*4; rs763016003

PubMed Link: 36411516

Variant Present in the following documents:

• Main text
• CNR2-6-e1757.pdf

View BVdb publication page

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Heterogeneity of the cancer cell line metabolic landscape.

Molecular Systems Biology

Shorthouse, David D; Bradley, Jenna J; Critchlow, Susan E SE; Bendtsen, Claus C; Hall, Benjamin A BA

Publication Date: 2022-11

Variant appearance in text: NOTCH1: 7541_7542delCT; Pro2514fs*4

PubMed Link: 36321551

Variant Present in the following documents:

• MSB-18-e11006-s010.xlsx, sheet 1

View BVdb publication page

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NOTCH1 Signalling: A key pathway for the development of high-risk chronic lymphocytic leukaemia.

Frontiers In Oncology

Edelmann, Jennifer J

Publication Date: 2022

Variant appearance in text: NOTCH1: 7541_7542delCT; P2514Rfs*4

PubMed Link: 36313682

Variant Present in the following documents:

• Main text
• fonc-12-1019730.pdf

View BVdb publication page

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Detection of early seeding of Richter transformation in chronic lymphocytic leukemia.

Nature Medicine

Nadeu, Ferran F; Royo, Romina R; Massoni-Badosa, Ramon R; Playa-Albinyana, Heribert H; Garcia-Torre, Beatriz B; Duran-Ferrer, Martí M; Dawson, Kevin J KJ; Kulis, Marta M; Diaz-Navarro, Ander A; Villamor, Neus N; Melero, Juan L JL; Chapaprieta, Vicente V; Dueso-Barroso, Ana A; Delgado, Julio J; Moia, Riccardo R; Ruiz-Gil, Sara S; Marchese, Domenica D; Giró, Ariadna A; Verdaguer-Dot, Núria N; Romo, Mónica M; Clot, Guillem G; Rozman, Maria M; Frigola, Gerard G; Rivas-Delgado, Alfredo A; Baumann, Tycho T; Alcoceba, Miguel M; González, Marcos M; Climent, Fina F; Abrisqueta, Pau P; Castellví, Josep J; Bosch, Francesc F; Aymerich, Marta M; Enjuanes, Anna A; Ruiz-Gaspà, Sílvia S; López-Guillermo, Armando A; Jares, Pedro P; Beà, Sílvia S; Capella-Gutierrez, Salvador S; Gelpí, Josep Ll JL; López-Bigas, Núria N; Torrents, David D; Campbell, Peter J PJ; Gut, Ivo I; Rossi, Davide D; Gaidano, Gianluca G; Puente, Xose S XS; Garcia-Roves, Pablo M PM; Colomer, Dolors D; Heyn, Holger H; Maura, Francesco F; Martín-Subero, José I JI; Campo, Elías E

Publication Date: 2022-08

Variant appearance in text: NOTCH1: 7541_7542delCT; Pro2514fs

PubMed Link: 35953718

Variant Present in the following documents:

• 41591_2022_1927_MOESM3_ESM.xlsx, sheet 71
• 41591_2022_1927_MOESM3_ESM.xlsx, sheet 63
• 41591_2022_1927_MOESM3_ESM.xlsx, sheet 21

View BVdb publication page

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Genetic landscapes and curative effect of CAR T-cell immunotherapy in relapse and refractory DLBCL patients.

Blood Advances

Shi, Hui H; Zheng, Peihao P; Liu, Rui R; Xu, Teng T; Yang, Fan F; Feng, Shaomei S; Guo, Yuelu Y; Ma, Lixia L; Liu, Haidi H; Lei, Yang Y; Li, Ruiting R; Deng, Biping B; Hou, Shuling S; Li, Yang Y; Zheng, Qinlong Q; Hu, Kai K; Ke, Xiaoyan X

Publication Date: 2022-07-28

Variant appearance in text: NOTCH1: 7541_7542del; P2514Rfs*4

PubMed Link: 35901280

Variant Present in the following documents:

• BLOODA_ADV-2021-006845-mmc1.xlsx, sheet 2

View BVdb publication page

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A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X

Publication Date: 2022

Variant appearance in text: NOTCH1: 7541_7542del

PubMed Link: 35874768

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Clonally unrelated Richter syndrome are truly de novo diffuse large B-cell lymphomas with a mutational profile reminiscent of clonally related Richter syndrome.

British Journal Of Haematology

Favini, Chiara C; Talotta, Donatella D; Almasri, Mohammad M; Andorno, Annalisa A; Rasi, Silvia S; Adhinaveni, Ramesh R; Kogila, Sreekar S; Awikeh, Bassel B; Schipani, Mattia M; Boggione, Paola P; Mouhssine, Samir S; Ghanej, Joseph J; Al Essa, Wael W; Mahmoud, Abdurraouf Mokhtar AM; Dondolin, Riccardo R; Alessa, Nariman N; Margiotta Casaluci, Gloria G; Boldorini, Renzo R; Gattei, Valter V; Gaidano, Gianluca G; Moia, Riccardo R

Publication Date: 2022-09

Variant appearance in text: NOTCH1: 7541_7542delCT; P2514Rfs*4

PubMed Link: 35829664

Variant Present in the following documents:

• BJH-198-1016-s001.xlsx, sheet 4

View BVdb publication page

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MiR-146b-5p regulates IL-23 receptor complex expression in chronic lymphocytic leukemia cells.

Blood Advances

Matis, Serena S; Grazia Recchia, Anna A; Colombo, Monica M; Cardillo, Martina M; Fabbi, Marina M; Todoerti, Katia K; Bossio, Sabrina S; Fabris, Sonia S; Cancila, Valeria V; Massara, Rosanna R; Reverberi, Daniele D; Emionite, Laura L; Cilli, Michele M; Cerruti, Giannamaria G; Salvi, Sandra S; Bet, Paola P; Pigozzi, Simona S; Fiocca, Roberto R; Ibatici, Adalberto A; Angelucci, Emanuele E; Gentile, Massimo M; Monti, Paola P; Menichini, Paola P; Fronza, Gilberto G; Torricelli, Federica F; Ciarrocchi, Alessia A; Neri, Antonino A; Fais, Franco F; Tripodo, Claudio C; Morabito, Fortunato F; Ferrarini, Manlio M; Cutrona, Giovanna G

Publication Date: 2022-10-25

Variant appearance in text: NOTCH1: 7541_7542delCT

PubMed Link: 35819446

Variant Present in the following documents:

• BLOODA_ADV-2021-005726-mmc1.pdf

View BVdb publication page

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Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Nature Communications

Burkhardt, Birgit B; Michgehl, Ulf U; Rohde, Jonas J; Erdmann, Tabea T; Berning, Philipp P; Reutter, Katrin K; Rohde, Marius M; Borkhardt, Arndt A; Burmeister, Thomas T; Dave, Sandeep S; Tzankov, Alexandar A; Dugas, Martin M; Sandmann, Sarah S; Fend, Falko F; Finger, Jasmin J; Mueller, Stephanie S; Gökbuget, Nicola N; Haferlach, Torsten T; Kern, Wolfgang W; Hartmann, Wolfgang W; Klapper, Wolfram W; Oschlies, Ilske I; Richter, Julia J; Kontny, Udo U; Lutz, Mathias M; Maecker-Kolhoff, Britta B; Ott, German G; Rosenwald, Andreas A; Siebert, Reiner R; von Stackelberg, Arend A; Strahm, Brigitte B; Woessmann, Wilhelm W; Zimmermann, Martin M; Zapukhlyak, Myroslav M; Grau, Michael M; Lenz, Georg G

Publication Date: 2022-07-06

Variant appearance in text: NOTCH1: 7541_7542delCT; P2514Rfs*4

PubMed Link: 35794096

Variant Present in the following documents:

• 41467_2022_31355_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Multiple Mechanisms of NOTCH1 Activation in Chronic Lymphocytic Leukemia: NOTCH1 Mutations and Beyond.

Cancers

Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Zucchetto, Antonella A; Bomben, Riccardo R; Polcik, Laura L; Dannewitz Prosseda, Svenja S; Hartmann, Tanja Nicole TN; Gattei, Valter V

Publication Date: 2022-06-17

Variant appearance in text: NOTCH1: P2514Rfs*4

PubMed Link: 35740661

Variant Present in the following documents:

• cancers-14-02997.pdf

View BVdb publication page

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Overexpression of c-Myc-dependent heterogeneous nuclear ribonucleoprotein A1 promotes proliferation and inhibits apoptosis in NOTCH1-mutated chronic lymphocytic leukemia cells.

Chinese Medical Journal

Zou, Yixin Y; Tang, Hanning H; Miao, Yi Y; Zhu, Huayuan H; Wang, Li L; Fan, Lei L; Fu, Jianxin J; Xu, Wei W; Li, Jianyong J; Xia, Yi Y

Publication Date: 2022-04-20

Variant appearance in text: NOTCH1: 7541_7542delCT

PubMed Link: 35730371

Variant Present in the following documents:

• Main text
• cm9-135-0920.pdf

View BVdb publication page

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IGH Translocations in Chinese Patients With Chronic Lymphocytic Leukemia: Clinicopathologic Characteristics and Genetic Profile.

Frontiers In Oncology

Li, Qinlu Q; Xing, Shugang S; Zhang, Heng H; Mao, Xiao X; Xiao, Min M; Wang, Ying Y

Publication Date: 2022

Variant appearance in text: NOTCH1: 7541_7542del; Pro2514Argfs*4; rs763016003

PubMed Link: 35720006

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.

Leukemia

Richter-Pechańska, Paulina P; Kunz, Joachim B JB; Rausch, Tobias T; Erarslan-Uysal, Büşra B; Bornhauser, Beat B; Frismantas, Viktoras V; Assenov, Yassen Y; Zimmermann, Martin M; Happich, Margit M; von Knebel-Doeberitz, Caroline C; von Neuhoff, Nils N; Köhler, Rolf R; Stanulla, Martin M; Schrappe, Martin M; Cario, Gunnar G; Escherich, Gabriele G; Kirschner-Schwabe, Renate R; Eckert, Cornelia C; Avigad, Smadar S; Pfister, Stefan M SM; Muckenthaler, Martina U MU; Bourquin, Jean-Pierre JP; Korbel, Jan O JO; Kulozik, Andreas E AE

Publication Date: 2022-07

Variant appearance in text: NOTCH1: 7541_7542del

PubMed Link: 35585141

Variant Present in the following documents:

• 41375_2022_1587_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies.

Cancer Science

Fukuhara, Suguru S; Oshikawa-Kumade, Yuji Y; Kogure, Yasunori Y; Shingaki, Sumito S; Kariyazono, Hirokazu H; Kikukawa, Yoshiya Y; Koya, Junji J; Saito, Yuki Y; Tabata, Mariko M; Yoshifuji, Kota K; Mizuno, Kota K; Miyagi-Maeshima, Akiko A; Matsushita, Hiromichi H; Sugiyama, Masanaka M; Ogawa, Chitose C; Inamoto, Yoshihiro Y; Fukuda, Takahiro T; Sugano, Masato M; Yamauchi, Nobuhiko N; Minami, Yosuke Y; Hirata, Makoto M; Yoshida, Teruhiko T; Kohno, Takashi T; Kohsaka, Shinji S; Mano, Hiroyuki H; Shiraishi, Yuichi Y; Ogawa, Seishi S; Izutsu, Koji K; Kataoka, Keisuke K

Publication Date: 2022-08

Variant appearance in text: NOTCH1: 7541_7542del; P2514fs

PubMed Link: 35579198

Variant Present in the following documents:

• CAS-113-2763-s003.xlsx, sheet 10

View BVdb publication page

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JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Leukemia

Bodaar, Kimberly K; Yamagata, Natsuko N; Barthe, Anais A; Landrigan, Jack J; Chonghaile, Triona Ni TN; Burns, Melissa M; Stevenson, Kristen E KE; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Wood, Brent B; Silverman, Lewis B LB; Teachey, David T DT; Meijerink, Jules P JP; Letai, Anthony A; Gutierrez, Alejandro A

Publication Date: 2022-06

Variant appearance in text: NOTCH1: 7541_7542delCT; P2514Rfs*4

PubMed Link: 35411095

Variant Present in the following documents:

• NIHMS1792675-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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Cell-free DNA sequencing as a potential screening tool for phase I targeted treatment in refractory/relapse diffuse large B-cell lymphoma.

Haematologica

Quivoron, Cyril C; Tarabay, Anthony A; Michot, Jean-Marie JM; Pagès, Arnaud A; Lecourt, Hélène H; Aupérin, Anne A; Danu, Alina A; Lazarovici, Julien J; Rossignol, Julien J; Ghez, David D; Dartigues, Peggy P; Vergé, Véronique V; Massard, Christophe C; Camara-Clayette, Valérie V; Ribrag, Vincent V; Sarkozy, Clémentine C

Publication Date: 2022-08-01

Variant appearance in text: NOTCH1: 7541_7542delCT; P2514fs

PubMed Link: 35320922

Variant Present in the following documents:

• 2021_280464_QUIVORON_SUPPL.pdf

View BVdb publication page

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Clinical Features and Prognostic Significance of NOTCH1 Mutations in Diffuse Large B-Cell Lymphoma.

Frontiers In Oncology

Li, Zhongqi Z; Yu, Fang F; Ye, Wenle W; Mao, Liping L; Huang, Jiansong J; Shao, Yang Y; Yan, Junrong J; Yu, Wenjuan W; Jin, Jie J; Wang, Jinghan J

Publication Date: 2021

Variant appearance in text: NOTCH1: 7541_7542delCT; P2514Rfs*4

PubMed Link: 34956871

Variant Present in the following documents:

• Main text
• DataSheet_2.xlsx, sheet 1
• DataSheet_1.pdf
• fonc-11-746577.pdf

View BVdb publication page

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Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Frontiers In Genetics

Gao, Fan F; Tian, Lei L; Shi, Hui H; Zheng, Peihao P; Wang, Jing J; Dong, Fei F; Hu, Kai K; Ke, Xiaoyan X

Publication Date: 2021

Variant appearance in text: NOTCH1: 7541_7542del; P2514Rfs*4

PubMed Link: 34925435

Variant Present in the following documents:

• DataSheet2.xlsx, sheet 1

View BVdb publication page

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Single-cell sequencing demonstrates complex resistance landscape in CLL and MCL treated with BTK and BCL2 inhibitors.

Blood Advances

Thompson, Ella R ER; Nguyen, Tamia T; Kankanige, Yamuna Y; Markham, John F JF; Anderson, Mary Ann MA; Handunnetti, Sasanka M SM; Thijssen, Rachel R; Yeh, Paul Sung-Hao PS; Tam, Constantine S CS; Seymour, John F JF; Roberts, Andrew W AW; Westerman, David A DA; Blombery, Piers P

Publication Date: 2022-01-25

Variant appearance in text: NOTCH1: 7541_7542del; Pro2514Argfs*4

PubMed Link: 34861696

Variant Present in the following documents:

• advancesADV2021006211-suppl1.pdf

View BVdb publication page

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Single-Cell Sequencing Demonstrates Complex Resistance Landscape in CLL and MCL Treated with BTK and BCL2 Inhibitors.

Blood Advances

Thompson, Ella R ER; Nguyen, Tamia T; Kankanige, Yamuna Y; Markham, John F JF; Anderson, Mary Ann MA; Handunnetti, Sasanka M SM; Thijssen, Rachel R; Yeh, Paul Sung-Hao PS; Tam, Constantine S CS; Seymour, John F JF; Roberts, Andrew W AW; Westerman, David A DA; Blombery, Piers P

Publication Date: 2021-12-03

Variant appearance in text: NOTCH1: 7541_7542del; Pro2514Argfs*4

PubMed Link: 34861696

Variant Present in the following documents:

• advancesADV2021006211-suppl1.pdf

View BVdb publication page

---

Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-12

Variant appearance in text: NOTCH1: 7541_7542del; P2514fs

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-11-25

Variant appearance in text: NOTCH1: 7541_7542del; P2514fs

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

---

Incorporation of next-generation sequencing in clinical practice using solid and liquid biopsy for patients with non-Hodgkin's lymphoma.

Scientific Reports

Bastos-Oreiro, Mariana M; Suárez-González, Julia J; Andrés-Zayas, Cristina C; Carrión, Natalia Carolina NC; Moreno, Solsiré S; Carbonell, Diego D; Chicano, María M; Muñiz, Paula P; Sanz, Laura L; Diaz-Crespo, Francisco Javier FJ; Menarguez, Javier J; Diez-Martín, José Luis JL; Buño, Ismael I; Martínez-Laperche, Carolina C

Publication Date: 2021-11-24

Variant appearance in text: NOTCH1: 7541_7542delCT; Pro2514Argfs*4

PubMed Link: 34819573

Variant Present in the following documents:

• 41598_2021_2362_MOESM10_ESM.xlsx, sheet 2

View BVdb publication page

---

Consistent B Cell Receptor Immunoglobulin Features Between Siblings in Familial Chronic Lymphocytic Leukemia.

Frontiers In Oncology

Kolijn, P Martijn PM; Muggen, Alice F AF; Ljungström, Viktor V; Agathangelidis, Andreas A; Wolvers-Tettero, Ingrid L M ILM; Beverloo, H Berna HB; Pál, Karol K; Hengeveld, Paul J PJ; Darzentas, Nikos N; Hendriks, Rudi W RW; van Dongen, Jacques J M JJM; Rosenquist, Richard R; Langerak, Anton W AW

Publication Date: 2021

Variant appearance in text: NOTCH1: 7541_7542del; P2514Rfs*4; rs763016003

PubMed Link: 34513715

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

---

Genomic mutation profile in progressive chronic lymphocytic leukemia patients prior to first-line chemoimmunotherapy with FCR and rituximab maintenance (REM).

Plos One

González-Rincón, Julia J; Garcia-Vela, José A JA; Gómez, Sagrario S; Fernández-Cuevas, Belén B; Nova-Gurumeta, Sara S; Pérez-Sanz, Nuria N; Alcoceba, Miguel M; González, Marcos M; Anguita, Eduardo E; López-Jiménez, Javier J; González-Barca, Eva E; Yáñez, Lucrecia L; Pérez-Persona, Ernesto E; de la Serna, Javier J; Fernández-Zarzoso, Miguel M; Deben, Guillermo G; Peñalver, Francisco J FJ; Fernández, María C MC; de Oteyza, Jaime Pérez JP; Andreu, M Ángeles MÁ; Ruíz-Guinaldo, M Ángeles MÁ; Paz-Arias, Raquel R; García-Malo, M Dolores MD; Recasens, Valle V; Collado, Rosa R; Córdoba, Raúl R; Navarro-Matilla, Belén B; Sánchez-Beato, Margarita M; García-Marco, José A JA

Publication Date: 2021

Variant appearance in text: NOTCH1: P2514fs*4

PubMed Link: 34506616

Variant Present in the following documents:

• pone.0257353.s001.xlsx, sheet 3

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Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Blood Advances

Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D

Publication Date: 2021-11-23

Variant appearance in text: NOTCH1: 7541_7542delCT; P2514fs*4

PubMed Link: 34500472

Variant Present in the following documents:

• advancesADV2021004528-suppl2.xlsx, sheet 7

View BVdb publication page

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Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Blood Advances

Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D

Publication Date: 2021-11-23

Variant appearance in text: NOTCH1: 7541_7542delCT; P2514fs*4

PubMed Link: 34500472

Variant Present in the following documents:

• advancesADV2021004528-suppl2.xlsx, sheet 7

View BVdb publication page

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Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology

Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A

Publication Date: 2022-02

Variant appearance in text: NOTCH1: 7541_7542del; rs763016003

PubMed Link: 34494161

Variant Present in the following documents:

• 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
• 428_2021_3186_MOESM21_ESM.xlsx, sheet 1

View BVdb publication page

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Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia

Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP

Publication Date: 2022-02

Variant appearance in text: NOTCH1: 7541_7542del; P2514Rfs*4

PubMed Link: 34413458

Variant Present in the following documents:

• 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1

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: 7541_7542del; P2514fs

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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MYC: a multipurpose oncogene with prognostic and therapeutic implications in blood malignancies.

Journal Of Hematology & Oncology

Ahmadi, Seyed Esmaeil SE; Rahimi, Samira S; Zarandi, Bahman B; Chegeni, Rouzbeh R; Safa, Majid M

Publication Date: 2021-08-09

Variant appearance in text: NOTCH1: 7541_7542delCT

PubMed Link: 34372899

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiregional sequencing and circulating tumour DNA analysis provide complementary approaches for comprehensive disease profiling of small lymphocytic lymphoma.

British Journal Of Haematology

Moia, Riccardo R; Favini, Chiara C; Ferri, Valentina V; Forestieri, Gabriela G; Terzi Di Bergamo, Lodovico L; Schipani, Mattia M; Sagiraju, Sruthi S; Andorno, Annalisa A; Rasi, Silvia S; Adhinaveni, Ramesh R; Talotta, Donatella D; Al Essa, Wael W; De Paoli, Lorenzo L; Margiotta Casaluci, Gloria G; Patriarca, Andrea A; Boldorini, Renzo L RL; Rossi, Davide D; Gaidano, Gianluca G

Publication Date: 2021-10

Variant appearance in text: NOTCH1: 7541_7542delCT

PubMed Link: 34291829

Variant Present in the following documents:

• BJH-195-108-s003.xlsx, sheet 2

View BVdb publication page

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Twists and turns from "tumor in tumor" profiling: surveillance of chronic lymphocytic leukemia (CLL) leads to detection of a lung adenocarcinoma, whose genomic characterization alters the original hematologic diagnosis.

Cold Spring Harbor Molecular Case Studies

Terraf, Panieh P; Sholl, Lynette M LM; Davids, Matthew S MS; Awad, Mark M MM; Garcia, Elizabeth P EP; MacConaill, Laura E LE; Dal Cin, Paola P; Kim, Annette A; Lindeman, Neal I NI; Stachler, Matthew M; Hwang, David H DH; Dubuc, Adrian M AM

Publication Date: 2021-08

Variant appearance in text: NOTCH1: 7541_7542delCT

PubMed Link: 34074652

Variant Present in the following documents:

• Main text
• MCS006089Ter.pdf

View BVdb publication page

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The Predominant Prognostic Significance of NOTCH1 Mutation Defined by Emulsion PCR in Chronic Lymphocytic Leukemia.

Cancer Management And Research

Skórka, Katarzyna K; Chojnacki, Michał M; Masternak, Marta M; Karczmarczyk, Agnieszka A; Subocz, Edyta E; Wawrzyniak, Ewa E; Giannopoulos, Krzysztof K

Publication Date: 2021

Variant appearance in text: NOTCH1: 7541_7542delCT

PubMed Link: 33986614

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: NOTCH1: P2514Rfs*4

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

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Bioinformatic strategies for the analysis of genomic aberrations detected by targeted NGS panels with clinical application.

Peerj

Hynst, Jakub J; Navrkalova, Veronika V; Pal, Karol K; Pospisilova, Sarka S

Publication Date: 2021

Variant appearance in text: NOTCH1: 7541_7542del; rs763016003

PubMed Link: 33850640

Variant Present in the following documents:

• peerj-09-10897-s001.xlsx, sheet 1

View BVdb publication page

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Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.

Leukemia

Lundgren, Sofie S; Keränen, Mikko A I MAI; Kankainen, Matti M; Huuhtanen, Jani J; Walldin, Gunilla G; Kerr, Cassandra M CM; Clemente, Michael M; Ebeling, Freja F; Rajala, Hanna H; Brück, Oscar O; Lähdesmäki, Harri H; Hannula, Sari S; Hannunen, Tiina T; Ellonen, Pekka P; Young, Neal S NS; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP; Hellström-Lindberg, Eva E; Mustjoki, Satu S

Publication Date: 2021-05

Variant appearance in text: NOTCH1: P2514fs*4

PubMed Link: 33785863

Variant Present in the following documents:

• 41375_2021_1231_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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STAT3 and TP53 mutations associate with poor prognosis in anaplastic large cell lymphoma.

Leukemia

Lobello, Cosimo C; Tichy, Boris B; Bystry, Vojtech V; Radova, Lenka L; Filip, Daniel D; Mraz, Marek M; Montes-Mojarro, Ivonne-Aidee IA; Prokoph, Nina N; Larose, Hugo H; Liang, Huan-Chang HC; Sharma, Geeta G GG; Mologni, Luca L; Belada, David D; Kamaradova, Katerina K; Fend, Falko F; Gambacorti-Passerini, Carlo C; Merkel, Olaf O; Turner, Suzanne D SD; Janikova, Andrea A; Pospisilova, Sarka S

Publication Date: 2021-05

Variant appearance in text: NOTCH1: 7541_7542del; rs763016003

PubMed Link: 33247178

Variant Present in the following documents:

• 41375_2020_1093_MOESM8_ESM.xlsx, sheet 1

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: NOTCH1: 7541_7542delCT; P2514fs

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Targeted genomic analysis of cutaneous T cell lymphomas identifies a subset with aggressive clinicopathological features.

Blood Cancer Journal

Argyropoulos, Kimon V KV; Pulitzer, Melissa M; Maura, Francesco F; Mohanty, Abhinita A; Mondello, Patrizia P; Horwitz, Steven M SM; Myskowski, Patricia P; Moskowitz, Alison A; Dogan, Ahmet A; Querfeld, Christiane C; Rapaport, Franck F; Siakantaris, Marina M; Louis, Peter C PC; Galasso, Natasha N; van den Brink, Marcel R M MRM; Palomba, M Lia ML

Publication Date: 2020-11-09

Variant appearance in text: NOTCH1: 7541_7542delCT; P2514fs*4

PubMed Link: 33168809

Variant Present in the following documents:

• 41408_2020_380_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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<i>SF3B1</i>-mutated chronic lymphocytic leukemia shows evidence of NOTCH1 pathway activation including CD20 downregulation

Haematologica

Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Vit, Filippo F; Vendramini, Elena E; Laurenti, Luca L; D'Arena, Giovanni G; Olivieri, Jacopo J; Pozzato, Gabriele G; Zaja, Francesco F; Chiarenza, Annalisa A; Di Raimondo, Francesco F; Zucchetto, Antonella A; Bomben, Riccardo R; Rossi, Francesca Maria FM; Del Poeta, Giovanni G; Dal Bo, Michele M; Gattei, Valter V

Publication Date: 2021-12-01

Variant appearance in text: NOTCH1: P2514Rfs*4

PubMed Link: 33121237

Variant Present in the following documents:

• 2020_261891_POZZO_SUPPL.pdf

View BVdb publication page

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Time to first treatment and P53 dysfunction in chronic lymphocytic leukaemia: results of the O-CLL1 study in early stage patients.

Scientific Reports

Monti, Paola P; Lionetti, Marta M; De Luca, Giuseppa G; Menichini, Paola P; Recchia, Anna Grazia AG; Matis, Serena S; Colombo, Monica M; Fabris, Sonia S; Speciale, Andrea A; Barbieri, Marzia M; Gentile, Massimo M; Zupo, Simonetta S; Dono, Mariella M; Ibatici, Adalberto A; Neri, Antonino A; Ferrarini, Manlio M; Fais, Franco F; Fronza, Gilberto G; Cutrona, Giovanna G; Morabito, Fortunato F

Publication Date: 2020-10-28

Variant appearance in text: NOTCH1: 7541_7542delCT

PubMed Link: 33116240

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic alterations in chronic lymphocytic leukemia and their correlation with clinico-hematological parameters and disease progression.

Blood Research

Srinivasan, Vishrut K VK; Naseem, Shano S; Varma, Neelam N; Lad, Deepesh P DP; Malhotra, Pankaj P

Publication Date: 2020-09-30

Variant appearance in text: NOTCH1: 7541_7542delCT

PubMed Link: 32747613

Variant Present in the following documents:

• Main text
• BR-55-131.pdf

View BVdb publication page

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Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Bmc Cancer

Zhang, Wei W; Yang, Li L; Guan, Yu' Qi YQ; Shen, Ke' Feng KF; Zhang, Mei' Lan ML; Cai, Hao' Dong HD; Wang, Jia' Chen JC; Wang, Ying Y; Huang, Liang L; Cao, Yang Y; Wang, Na N; Tan, Xiao' Hong XH; Young, Ken He KH; Xiao, Min M; Zhou, Jian' Feng JF

Publication Date: 2020-07-31

Variant appearance in text: NOTCH1: 7541_7542del; Pro2514Argfs*4

PubMed Link: 32736575

Variant Present in the following documents:

• 12885_2020_7198_MOESM5_ESM.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: NOTCH1: P2514Rfs*4

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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Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.

Ebiomedicine

Shi, Yuankai Y; Su, Hang H; Song, Yongping Y; Jiang, Wenqi W; Sun, Xiuhua X; Qian, Wenbin W; Zhang, Wei W; Gao, Yuhuan Y; Jin, Zhengming Z; Zhou, Jianfeng J; Jin, Chuan C; Zou, Liqun L; Qiu, Lugui L; Li, Wei W; Yang, Jianmin J; Hou, Ming M; Xiong, Yan Y; Zhou, Hui H; Du, Xinhua X; Wang, Xiong X; Peng, Bo B

Publication Date: 2020-04

Variant appearance in text: NOTCH1: 7541_7542delCT; P2514Rfs*4; rs763016003

PubMed Link: 32304999

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page

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Performance of anti-CD19 chimeric antigen receptor T cells in genetically defined classes of chronic lymphocytic leukemia.

Journal For Immunotherapy Of Cancer

Mancikova, Veronika V; Peschelova, Helena H; Kozlova, Veronika V; Ledererova, Aneta A; Ladungova, Adriana A; Verner, Jan J; Loja, Tomas T; Folber, Frantisek F; Mayer, Jiri J; Pospisilova, Sarka S; Smida, Michal M

Publication Date: 2020-03

Variant appearance in text: NOTCH1: 7541_7542delCT

PubMed Link: 32217767

Variant Present in the following documents:

• jitc-2019-000471.pdf

View BVdb publication page

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A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology

Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB

Publication Date: 2020-02

Variant appearance in text: N/A

PubMed Link: 31844290

Variant Present in the following documents:

View BVdb publication page

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