Publications:

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Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.

Clinical Epigenetics

El Khoury, Louis Y LY; Pan, Xiaoyu X; Hlady, Ryan A RA; Wagner, Ryan T RT; Shaikh, Shafiq S; Wang, Liguo L; Humphreys, Mitchell R MR; Castle, Erik P EP; Stanton, Melissa L ML; Ho, Thai H TH; Robertson, Keith D KD

Publication Date: 2023-04-29

Variant appearance in text: KMT2C: Q3478E

PubMed Link: 37120552

Variant Present in the following documents:

• 13148_2023_1471_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: KMT2C: Q3478E

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia.

Blood Science (Baltimore, Md.)

Zhu, Haichuan H; Dong, Bingjie B; Zhang, Yingchi Y; Wang, Mei M; Rao, Jianan J; Cui, Bowen B; Liu, Yu Y; Jiang, Qian Q; Wang, Weitao W; Yang, Lu L; Yu, Anqi A; Li, Zongru Z; Liu, Chao C; Zhang, Leping L; Huang, Xiaojun X; Zhu, Xiaofan X; Wu, Hong H

Publication Date: 2022-01

Variant appearance in text: KMT2C: Q3478E

PubMed Link: 35399540

Variant Present in the following documents:

• bls-4-16-s005.xlsx, sheet 2

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: KMT2C: Q3478E; rs142835638

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Follicular lymphoma grade 3B and diffuse large B-cell lymphoma present a histopathological and molecular continuum lacking features of progression/ transformation.

Haematologica

Koch, Karoline K; Richter, Julia J; Hanel, Christoph C; Huttmann, Andreas A; Duhrsen, Ulrich U; Klapper, Wolfram W

Publication Date: 2022-09-01

Variant appearance in text: KMT2C: 10432C>G; Gln3478Glu; rs142835638

PubMed Link: 35021600

Variant Present in the following documents:

• 2021_279351_KOCK_TAB2_SUPPL.xlsx, sheet 1

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: KMT2C: 10432C>G; Q3478E; rs142835638

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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Genetic Variants and Tumor Immune Microenvironment: Clues for Targeted Therapies in Inflammatory Breast Cancer (IBC).

International Journal Of Molecular Sciences

Gong, Yulan Y; Nagarathinam, Rajeswari R; Arisi, Maria F MF; Gerratana, Lorenzo L; Winn, Jennifer S JS; Slifker, Michael M; Pei, Jianming J; Cai, Kathy Q KQ; Hasse, Zachary Z; Obeid, Elias E; Noriega, Julio J; Sebastiano, Christopher C; Ross, Eric E; Alpaugh, Katherine K; Cristofanilli, Massimo M; Fernandez, Sandra V SV

Publication Date: 2021-08-19

Variant appearance in text: KMT2C: 10432C>G; Q3478E

PubMed Link: 34445631

Variant Present in the following documents:

• Main text
• ijms-22-08924.pdf

View BVdb publication page

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Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

International Journal Of Molecular Sciences

Winn, Jennifer S JS; Hasse, Zachary Z; Slifker, Michael M; Pei, Jianming J; Arisi-Fernandez, Sebastian M SM; Talarchek, Jacqueline N JN; Obeid, Elias E; Baldwin, Donald A DA; Gong, Yulan Y; Ross, Eric E; Cristofanilli, Massimo M; Alpaugh, R Katherine RK; Fernandez, Sandra V SV

Publication Date: 2020-02-14

Variant appearance in text: KMT2C: 10432C>G; Q3478E

PubMed Link: 32075053

Variant Present in the following documents:

• Main text
• ijms-21-01290.pdf

View BVdb publication page

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: KMT2C: 10432C>G; Q3478E; rs142835638

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM7_ESM.xls, sheet 1
• 12920_2020_668_MOESM8_ESM.xls, sheet 1

View BVdb publication page

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Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine

Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA

Publication Date: 2018-09

Variant appearance in text: KMT2C: Q3478E; rs142835638

PubMed Link: 30008175

Variant Present in the following documents:

• MGG3-6-749-s004.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: KMT2C: 10432C>G; Gln3478Glu; rs142835638

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s7.xlsx, sheet 3

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: KMT2C: 10432C>G; Gln3478Glu; rs142835638

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 9

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: MLL3: Q3478E; rs142835638

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Mutation and expression analysis in medulloblastoma yields prognostic variants and a putative mechanism of disease for i17q tumors.

Acta Neuropathologica Communications

Bien-Willner, Gabriel A GA; Mitra, Robi D RD

Publication Date: 2014-07-17

Variant appearance in text: MLL3: Q3478E

PubMed Link: 25030029

Variant Present in the following documents:

• 40478_2014_74_MOESM3_ESM.xlsx, sheet 1

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: MLL3: Q3478E; rs142835638

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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SNVHMM: predicting single nucleotide variants from next generation sequencing.

Bmc Bioinformatics

Bian, Jiawen J; Liu, Chenglin C; Wang, Hongyan H; Xing, Jing J; Kachroo, Priyanka P; Zhou, Xiaobo X

Publication Date: 2013-07-15

Variant appearance in text: MLL3: Q3478E

PubMed Link: 23855743

Variant Present in the following documents:

View BVdb publication page

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