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: BUB1B: R550Q

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Frontiers In Cardiovascular Medicine

Liu, Yu-Xing YX; Yu, Rong R; Sheng, Yue Y; Fan, Liang-Liang LL; Deng, Yao Y

Publication Date: 2022

Variant appearance in text: BUB1B: 1649G>A; Arg550Gln; rs28989187

PubMed Link: 36277747

Variant Present in the following documents:

• Data_Sheet_1.xls, sheet 1

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: BUB1B: R550Q; rs28989187

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes.

Frontiers In Genetics

Xu, Yun Y; Huang, Zonghao Z; Li, Cong C; Zhu, Congcong C; Zhang, Yuqin Y; Guo, Tian'an T; Liu, Fangqi F; Xu, Ye Y

Publication Date: 2020

Variant appearance in text: BUB1B: Arg550Gln

PubMed Link: 32973888

Variant Present in the following documents:

• Main text
• fgene-11-00991.pdf

View BVdb publication page

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Defining an embryonal rhabdomyosarcoma endotype.

Cold Spring Harbor Molecular Case Studies

Ricker, Cora A CA; Crawford, Kenneth K; Matlock, Kevin K; Lathara, Melvin M; Seguin, Bernard B; Rudzinski, Erin R ER; Berlow, Noah E NE; Keller, Charles C

Publication Date: 2020-04

Variant appearance in text: BUB1B: 1649G>A; Arg550Gln

PubMed Link: 32238403

Variant Present in the following documents:

• Main text
• MCS005066Ric.pdf

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: BUB1B: R550Q

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine

Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M

Publication Date: 2018-04-09

Variant appearance in text: BUB1B: R550Q

PubMed Link: 29642553

Variant Present in the following documents:

• Main text
• jpm-08-00013.pdf

View BVdb publication page

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The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget

Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM

Publication Date: 2018-01-30

Variant appearance in text: BUB1B: 1649G>A; Arg550Gln; rs28989187

PubMed Link: 29487696

Variant Present in the following documents:

• oncotarget-09-7844-s003.xlsx, sheet 1

View BVdb publication page

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Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.

Oncotarget

Nakagaki, Takafumi T; Tamura, Miyuki M; Kobashi, Kenta K; Koyama, Ryota R; Fukushima, Hisayo H; Ohashi, Tomoko T; Idogawa, Masashi M; Ogi, Kazuhiro K; Hiratsuka, Hiroyoshi H; Tokino, Takashi T; Sasaki, Yasushi Y

Publication Date: 2017-08-29

Variant appearance in text: BUB1B: Arg550Gln

PubMed Link: 28938622

Variant Present in the following documents:

• oncotarget-08-59113-s006.xlsx, sheet 1

View BVdb publication page

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: BUB1B: R550Q; rs28989187

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 2

View BVdb publication page

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In silico analysis of deleterious single nucleotide polymorphisms in human BUB1 mitotic checkpoint serine/threonine kinase B gene.

Meta Gene

Akhoundi, Fatemeh F; Parvaneh, Nikpour N; Modjtaba, Emadi-Baygi EB

Publication Date: 2016-09

Variant appearance in text: BUB1B: R550Q; rs28989187

PubMed Link: 27331020

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28989187

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BUB1B: R550Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy.

Cancer Research

Suijkerbuijk, Saskia J E SJ; van Osch, Maria H J MH; Bos, Frank L FL; Hanks, Sandra S; Rahman, Nazneen N; Kops, Geert J P L GJ

Publication Date: 2010-06-15

Variant appearance in text: BUBR1: R550Q

PubMed Link: 20516114

Variant Present in the following documents:

• Main text

View BVdb publication page

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