Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KMT2D: 10045A>G; Met3349Val

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Primary central nervous system CD20-negative diffuse large B-cell lymphoma: a case report.

Bmc Neurology

Luo, Shuai S; Huang, Xiang X; Li, Yao Y; Wang, Jinjing J

Publication Date: 2022-12-29

Variant appearance in text: KMT2D: 10045A>G; Met3349Val

PubMed Link: 36581860

Variant Present in the following documents:

• Main text
• 12883_2022_Article_3031.pdf

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: KMT2D: M3349V

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity.

Frontiers In Immunology

Papadatou, Ioanna I; Marinakis, Nikolaos N; Botsa, Evanthia E; Tzanoudaki, Marianna M; Kanariou, Maria M; Orfanou, Irene I; Kanaka-Gantenbein, Christina C; Traeger-Synodinos, Joanne J; Spoulou, Vana V

Publication Date: 2021

Variant appearance in text: rs80149580

PubMed Link: 33679784

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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IKKε and TBK1 in diffuse large B-cell lymphoma: A possible mechanism of action of an IKKε/TBK1 inhibitor to repress NF-κB and IL-10 signalling.

Journal Of Cellular And Molecular Medicine

Carr, Matthew M; Mamand, Sami S; Chapman, Kathryn L KL; Perrior, Trevor T; Wagner, Simon D SD

Publication Date: 2020-10

Variant appearance in text: KMT2D: M3349V

PubMed Link: 32858764

Variant Present in the following documents:

• JCMM-24-11573-s001.pdf

View BVdb publication page

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High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: KMT2D: 10045A>G; M3349V; rs80149580

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_SourceDataExtFig8.xlsx, sheet 1
• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 5

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: KMT2D: M3349V

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 47
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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[Spectrum of somatic mutations and their prognostic significance in adult patients with B cell acute lymphoblastic leukemia].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Feng, J J; Gong, X Y XY; Jia, Y J YJ; Liu, K Q KQ; Li, Y Y; Dong, X B XB; Fang, Q Y QY; Ru, K K; Li, Q H QH; Wang, H J HJ; Zhao, X L XL; Jia, Y N YN; Song, Y Y; Tian, Z Z; Wang, M M; Tang, K J KJ; Wang, J X JX; Mi, Y C YC

Publication Date: 2018-02-14

Variant appearance in text: KMT2D: M3349V

PubMed Link: 29562441

Variant Present in the following documents:

• Main text
• cjh-39-02-098.pdf

View BVdb publication page

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Histone modifier gene mutations in peripheral T-cell lymphoma not otherwise specified.

Haematologica

Ji, Meng-Meng MM; Huang, Yao-Hui YH; Huang, Jin-Yan JY; Wang, Zhao-Fu ZF; Fu, Di D; Liu, Han H; Liu, Feng F; Leboeuf, Christophe C; Wang, Li L; Ye, Jing J; Lu, Yi-Ming YM; Janin, Anne A; Cheng, Shu S; Zhao, Wei-Li WL

Publication Date: 2018-04

Variant appearance in text: KMT2D: M3349V

PubMed Link: 29305415

Variant Present in the following documents:

• 2017.182444.Ji_SUPPL.pdf

View BVdb publication page

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Molecular diagnostics of a single drug-resistant multiple myeloma case using targeted next-generation sequencing.

Oncotargets And Therapy

Ikeda, Hiroshi H; Ishiguro, Kazuya K; Igarashi, Tetsuyuki T; Aoki, Yuka Y; Hayashi, Toshiaki T; Ishida, Tadao T; Sasaki, Yasushi Y; Tokino, Takashi T; Shinomura, Yasuhisa Y

Publication Date: 2015

Variant appearance in text: KMT2D: Met3349Val; rs80149580

PubMed Link: 26491355

Variant Present in the following documents:

• Main text
• ott-8-2805.pdf

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: rs80149580

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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