Publications:

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Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics

Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N

Publication Date: 2023-01-26

Variant appearance in text: rs17028450

PubMed Link: 36703207

Variant Present in the following documents:

• 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Leukocyte Nuclear Morphology Alterations in Dilated Cardiomyopathy Caused by a Lamin AC Truncating Mutation (LMNA/Ser431*) Are Modified by the Presence of a LAP2 Missense Polymorphism (TMPO/Arg690Cys).

International Journal Of Molecular Sciences

González-Garrido, Antonia A; Rosas-Madrigal, Sandra S; Rojo-Domínguez, Arturo A; Arellanes-Robledo, Jaime J; López-Mora, Enrique E; Carnevale, Alessandra A; Arregui, Leticia L; Rosendo-Gutiérrez, Rigoberto R; Romero-Hidalgo, Sandra S; Villarreal-Molina, María Teresa MT

Publication Date: 2022-11-07

Variant appearance in text: rs17028450

PubMed Link: 36362411

Variant Present in the following documents:

• Main text
• ijms-23-13626.pdf

View BVdb publication page

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Editorial: The Genetic Causes Underlying Immune Mediated Disease: A Focus on Autoimmunity and Cancer.

Frontiers In Genetics

Jiménez-Morales, Silvia S; Ren, Xianwen X; Dean, Michael M

Publication Date: 2022

Variant appearance in text: rs17028450

PubMed Link: 35401679

Variant Present in the following documents:

• Main text
• fgene-13-889160.pdf

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: rs17028450

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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Interaction of HLA Class II rs9272219 and TMPO rs17028450 (Arg690Cys) Variants Affects Neuromyelitis Optica Spectrum Disorder Susceptibility in an Admixed Mexican Population.

Frontiers In Genetics

Rosas-Madrigal, Sandra S; Villarreal-Molina, María Teresa MT; Flores-Rivera, José J; Rivas-Alonso, Verónica V; Macias-Kauffer, Luis Rodrigo LR; Ordoñez, Graciela G; Chima-Galán, María Del Carmen MDC; Acuña-Alonzo, Víctor V; Macín-Pérez, Gastón G; Barquera, Rodrigo R; Granados, Julio J; Valle-Rios, Ricardo R; Corona, Teresa T; Carnevale, Alessandra A; Romero-Hidalgo, Sandra S

Publication Date: 2021

Variant appearance in text: rs17028450

PubMed Link: 34335680

Variant Present in the following documents:

• Main text
• fgene-12-647343.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: rs17028450

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Estimating the mutational load for cardiovascular diseases in Pakistani population.

Plos One

Shakeel, Muhammad M; Irfan, Muhammad M; Khan, Ishtiaq Ahmad IA

Publication Date: 2018

Variant appearance in text: rs17028450

PubMed Link: 29420653

Variant Present in the following documents:

• pone.0192446.s009.xlsx, sheet 2

View BVdb publication page

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Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.

Plos One

Zaragoza, Michael V MV; Fung, Lianna L; Jensen, Ember E; Oh, Frances F; Cung, Katherine K; McCarthy, Linda A LA; Tran, Christine K CK; Hoang, Van V; Hakim, Simin A SA; Grosberg, Anna A

Publication Date: 2016

Variant appearance in text: rs17028450

PubMed Link: 27182706

Variant Present in the following documents:

• Main text
• pone.0155421.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: rs17028450

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

Circulation. Cardiovascular Genetics

Norton, Nadine N; Robertson, Peggy D PD; Rieder, Mark J MJ; Züchner, Stephan S; Rampersaud, Evadnie E; Martin, Eden E; Li, Duanxiang D; Nickerson, Deborah A DA; Hershberger, Ray E RE; ,

Publication Date: 2012-04-01

Variant appearance in text: rs17028450

PubMed Link: 22337857

Variant Present in the following documents:

• Main text

View BVdb publication page

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