Publications:

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs28711516

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study.

Annals Of Translational Medicine

Shen, Cheng C; Xu, Lei L; Sun, Xiaoning X; Sun, Aijun A; Ge, Junbo J

Publication Date: 2022-02

Variant appearance in text: MYH6: G56R; rs28711516

PubMed Link: 35284542

Variant Present in the following documents:

• Main text
• atm-10-03-129-supplementary.pdf
• atm-10-03-129.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: MYH6: G56R; rs28711516

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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Differential Mutation Detection Capability Through Capture-Based Targeted Sequencing in Plasma Samples in Hepatocellular Carcinoma.

Frontiers In Oncology

Gao, Jian J; Xi, Lei L; Yu, Rentao R; Xu, Huailong H; Wu, Min M; Huang, Hong H

Publication Date: 2021

Variant appearance in text: MYH6: 166G>A

PubMed Link: 33996539

Variant Present in the following documents:

• DataSheet_8.xlsx, sheet 3
• DataSheet_8.xlsx, sheet 4

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: MYH6: 166G>A; G56R; rs28711516

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1

View BVdb publication page

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Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Peerj

Guelly, Christian C; Abilova, Zhannur Z; Nuralinov, Omirbek O; Panzitt, Katrin K; Akhmetova, Ainur A; Rakhimova, Saule S; Kozhamkulov, Ulan U; Kairov, Ulykbek U; Molkenov, Askhat A; Seisenova, Ainur A; Trajanoski, Slave S; Abildinova Rashbayeva, Gulzhaina G; Kaussova, Galina G; Windpassinger, Christian C; Lee, Joseph H JH; Zhumadilov, Zhaxybay Z; Bekbossynova, Makhabbat M; Akilzhanova, Ainur A

Publication Date: 2021

Variant appearance in text: MYH6: G56R; rs28711516

PubMed Link: 33552729

Variant Present in the following documents:

• peerj-09-10711-s004.xlsx, sheet 1
• peerj-09-10711-s004.xlsx, sheet 2

View BVdb publication page

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Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports

Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B

Publication Date: 2020-09-01

Variant appearance in text: MYH6: 166G>A; Gly56Arg

PubMed Link: 32873813

Variant Present in the following documents:

• 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH6: Gly56Arg

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

View BVdb publication page

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Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.

Nature Communications

Ntalla, Ioanna I; Weng, Lu-Chen LC; Cartwright, James H JH; Hall, Amelia Weber AW; Sveinbjornsson, Gardar G; Tucker, Nathan R NR; Choi, Seung Hoan SH; Chaffin, Mark D MD; Roselli, Carolina C; Barnes, Michael R MR; Mifsud, Borbala B; Warren, Helen R HR; Hayward, Caroline C; Marten, Jonathan J; Cranley, James J JJ; Concas, Maria Pina MP; Gasparini, Paolo P; Boutin, Thibaud T; Kolcic, Ivana I; Polasek, Ozren O; Rudan, Igor I; Araujo, Nathalia M NM; Lima-Costa, Maria Fernanda MF; Ribeiro, Antonio Luiz P ALP; Souza, Renan P RP; Tarazona-Santos, Eduardo E; Giedraitis, Vilmantas V; Ingelsson, Erik E; Mahajan, Anubha A; Morris, Andrew P AP; Del Greco M, Fabiola F; Foco, Luisa L; Gögele, Martin M; Hicks, Andrew A AA; Cook, James P JP; Lind, Lars L; Lindgren, Cecilia M CM; Sundström, Johan J; Nelson, Christopher P CP; Riaz, Muhammad B MB; Samani, Nilesh J NJ; Sinagra, Gianfranco G; Ulivi, Sheila S; Kähönen, Mika M; Mishra, Pashupati P PP; Mononen, Nina N; Nikus, Kjell K; Caulfield, Mark J MJ; Dominiczak, Anna A; Padmanabhan, Sandosh S; Montasser, May E ME; O'Connell, Jeff R JR; Ryan, Kathleen K; Shuldiner, Alan R AR; Aeschbacher, Stefanie S; Conen, David D; Risch, Lorenz L; Thériault, Sébastien S; Hutri-Kähönen, Nina N; Lehtimäki, Terho T; Lyytikäinen, Leo-Pekka LP; Raitakari, Olli T OT; Barnes, Catriona L K CLK; Campbell, Harry H; Joshi, Peter K PK; Wilson, James F JF; Isaacs, Aaron A; Kors, Jan A JA; van Duijn, Cornelia M CM; Huang, Paul L PL; Gudnason, Vilmundur V; Harris, Tamara B TB; Launer, Lenore J LJ; Smith, Albert V AV; Bottinger, Erwin P EP; Loos, Ruth J F RJF; Nadkarni, Girish N GN; Preuss, Michael H MH; Correa, Adolfo A; Mei, Hao H; Wilson, James J; Meitinger, Thomas T; Müller-Nurasyid, Martina M; Peters, Annette A; Waldenberger, Melanie M; Mangino, Massimo M; Spector, Timothy D TD; Rienstra, Michiel M; van de Vegte, Yordi J YJ; van der Harst, Pim P; Verweij, Niek N; Kääb, Stefan S; Schramm, Katharina K; Sinner, Moritz F MF; Strauch, Konstantin K; Cutler, Michael J MJ; Fatkin, Diane D; London, Barry B; Olesen, Morten M; Roden, Dan M DM; Benjamin Shoemaker, M M; Gustav Smith, J J; Biggs, Mary L ML; Bis, Joshua C JC; Brody, Jennifer A JA; Psaty, Bruce M BM; Rice, Kenneth K; Sotoodehnia, Nona N; De Grandi, Alessandro A; Fuchsberger, Christian C; Pattaro, Cristian C; Pramstaller, Peter P PP; Ford, Ian I; Wouter Jukema, J J; Macfarlane, Peter W PW; Trompet, Stella S; Dörr, Marcus M; Felix, Stephan B SB; Völker, Uwe U; Weiss, Stefan S; Havulinna, Aki S AS; Jula, Antti A; Sääksjärvi, Katri K; Salomaa, Veikko V; Guo, Xiuqing X; Heckbert, Susan R SR; Lin, Henry J HJ; Rotter, Jerome I JI; Taylor, Kent D KD; Yao, Jie J; de Mutsert, Renée R; Maan, Arie C AC; Mook-Kanamori, Dennis O DO; Noordam, Raymond R; Cucca, Francesco F; Ding, Jun J; Lakatta, Edward G EG; Qian, Yong Y; Tarasov, Kirill V KV; Levy, Daniel D; Lin, Honghuang H; Newton-Cheh, Christopher H CH; Lunetta, Kathryn L KL; Murray, Alison D AD; Porteous, David J DJ; Smith, Blair H BH; Stricker, Bruno H BH; Uitterlinden, André A; van den Berg, Marten E ME; Haessler, Jeffrey J; Jackson, Rebecca D RD; Kooperberg, Charles C; Peters, Ulrike U; Reiner, Alexander P AP; Whitsel, Eric A EA; Alonso, Alvaro A; Arking, Dan E DE; Boerwinkle, Eric E; Ehret, Georg B GB; Soliman, Elsayed Z EZ; Avery, Christy L CL; Gogarten, Stephanie M SM; Kerr, Kathleen F KF; Laurie, Cathy C CC; Seyerle, Amanda A AA; Stilp, Adrienne A; Assa, Solmaz S; Abdullah Said, M M; Yldau van der Ende, M M; Lambiase, Pier D PD; Orini, Michele M; Ramirez, Julia J; Van Duijvenboden, Stefan S; Arnar, David O DO; Gudbjartsson, Daniel F DF; Holm, Hilma H; Sulem, Patrick P; Thorleifsson, Gudmar G; Thorolfsdottir, Rosa B RB; Thorsteinsdottir, Unnur U; Benjamin, Emelia J EJ; Tinker, Andrew A; Stefansson, Kari K; Ellinor, Patrick T PT; Jamshidi, Yalda Y; Lubitz, Steven A SA; Munroe, Patricia B PB

Publication Date: 2020-05-21

Variant appearance in text: MYH6: Gly56Arg; rs28711516

PubMed Link: 32439900

Variant Present in the following documents:

• Main text
• 41467_2020_Article_15706.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: MYH6: 166G>A; Gly56Arg; rs28711516

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: MYH6: 166G>A; Gly56Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: MYH6: G56R; rs28711516

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: MYH6: G56R; rs28711516

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: MYH6: 166G>A; Gly56Arg; rs28711516

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

European Heart Journal

Walsh, Roddy R; Buchan, Rachel R; Wilk, Alicja A; John, Shibu S; Felkin, Leanne E LE; Thomson, Kate L KL; Chiaw, Tang Hak TH; Loong, Calvin Chin Woon CCW; Pua, Chee Jian CJ; Raphael, Claire C; Prasad, Sanjay S; Barton, Paul J PJ; Funke, Birgit B; Watkins, Hugh H; Ware, James S JS; Cook, Stuart A SA

Publication Date: 2017-12-07

Variant appearance in text: MYH6: 166G>A; G56R

PubMed Link: 28082330

Variant Present in the following documents:

• ehw603_supplementary_tables_s1_s5_s7.xlsx, sheet 2

View BVdb publication page

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Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr

Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA

Publication Date: 2016-06-23

Variant appearance in text: MYH6: G56R

PubMed Link: 27334989

Variant Present in the following documents:

• 13058_2016_727_MOESM3_ESM.xlsx, sheet 1

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: rs28711516

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: N/A

PubMed Link: 26206375

Variant Present in the following documents:

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: MYH6: G56R; rs28711516

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: MYH6: G56R; rs28711516

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: MYH6: G56R; rs28711516

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.

Biodata Mining

Preeprem, Thanawadee T; Gibson, Greg G

Publication Date: 2013-12-23

Variant appearance in text: MYH6: G56R

PubMed Link: 24365473

Variant Present in the following documents:

• Main text
• 1756-0381-6-24-S2.xlsx, sheet 6
• 1756-0381-6-24-S2.xlsx, sheet 4
• 1756-0381-6-24-S2.xlsx, sheet 5
• 1756-0381-6-24.pdf

View BVdb publication page

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High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

Bmc Medical Genetics

Santos, Susana S; Marques, Vanda V; Pires, Marina M; Silveira, Leonor L; Oliveira, Helena H; Lança, Vasco V; Brito, Dulce D; Madeira, Hugo H; Esteves, J Fonseca JF; Freitas, António A; Carreira, Isabel M IM; Gaspar, Isabel M IM; Monteiro, Carolino C; Fernandes, Alexandra R AR

Publication Date: 2012-03-19

Variant appearance in text: MYH6: Gly56Arg

PubMed Link: 22429680

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Plos One

Posch, Maximilian G MG; Waldmuller, Stephan S; Müller, Melanie M; Scheffold, Thomas T; Fournier, David D; Andrade-Navarro, Miguel A MA; De Geeter, Bernard B; Guillaumont, Sophie S; Dauphin, Claire C; Yousseff, Dany D; Schmitt, Katharina R KR; Perrot, Andreas A; Berger, Felix F; Hetzer, Roland R; Bouvagnet, Patrice P; Özcelik, Cemil C

Publication Date: 2011

Variant appearance in text: MYH6: 166G>A; G56R; rs28711516

PubMed Link: 22194935

Variant Present in the following documents:

• pone.0028872.s001.pdf

View BVdb publication page

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