Publications:

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Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy.

Circulation

Lota, Amrit S AS; Hazebroek, Mark R MR; Theotokis, Pantazis P; Wassall, Rebecca R; Salmi, Sara S; Halliday, Brian P BP; Tayal, Upasana U; Verdonschot, Job J; Meena, Devendra D; Owen, Ruth R; de Marvao, Antonio A; Iacob, Alma A; Yazdani, Momina M; Hammersley, Daniel J DJ; Jones, Richard E RE; Wage, Riccardo R; Buchan, Rachel R; Vivian, Fredrik F; Hafouda, Yakeen Y; Noseda, Michela M; Gregson, John J; Mittal, Tarun T; Wong, Joyce J; Robertus, Jan Lukas JL; Baksi, A John AJ; Vassiliou, Vassilios V; Tzoulaki, Ioanna I; Pantazis, Antonis A; Cleland, John G F JGF; Barton, Paul J R PJR; Cook, Stuart A SA; Pennell, Dudley J DJ; Garcia-Pavia, Pablo P; Cooper, Leslie T LT; Heymans, Stephane S; Ware, James S JS; Prasad, Sanjay K SK

Publication Date: 2022-10-11

Variant appearance in text: MYH7: 3286G>T; Asp1096Tyr

PubMed Link: 36154167

Variant Present in the following documents:

• cir-146-1123-s001.pdf

View BVdb publication page

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: MYH7: 3286G>T

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, 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: MYH7: D1096Y; rs45478699

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 13
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.

Journal Of Clinical Medicine

Kolokotronis, Konstantinos K; Pluta, Natalie N; Klopocki, Eva E; Kunstmann, Erdmute E; Messroghli, Daniel D; Maack, Christoph C; Tejman-Yarden, Shai S; Arad, Michael M; Rost, Simone S; Gerull, Brenda B

Publication Date: 2020-07-09

Variant appearance in text: MYH7: 3286G>T; Asp1096Tyr

PubMed Link: 32659924

Variant Present in the following documents:

• Main text
• jcm-09-02168.pdf

View BVdb publication page

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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

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

Töpf, Ana A; Johnson, Katherine K; Bates, Adam A; Phillips, Lauren L; Chao, Katherine R KR; England, Eleina M EM; Laricchia, Kristen M KM; Mullen, Thomas T; Valkanas, Elise E; Xu, Liwen L; Bertoli, Marta M; Blain, Alison A; Casasús, Ana B AB; Duff, Jennifer J; Mroczek, Magdalena M; Specht, Sabine S; Lek, Monkol M; Ensini, Monica M; MacArthur, Daniel G DG; , ; Straub, Volker V

Publication Date: 2020-09

Variant appearance in text: MYH7: 3286G>T; D1096Y

PubMed Link: 32528171

Variant Present in the following documents:

• 41436_2020_840_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: MYH7: 3286G>T; D1096Y

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
• 41467_2020_16067_MOESM19_ESM.xlsx, sheet 1

View BVdb publication page

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Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.

Genome Medicine

Salfati, Elias L EL; Spencer, Emily G EG; Topol, Sarah E SE; Muse, Evan D ED; Rueda, Manuel M; Lucas, Jonathan R JR; Wagner, Glenn N GN; Campman, Steven S; Topol, Eric J EJ; Torkamani, Ali A

Publication Date: 2019-12-17

Variant appearance in text: MYH7: 3286G>T; Asp1096Tyr; rs45478699

PubMed Link: 31847883

Variant Present in the following documents:

• 13073_2019_702_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: MYH7: 3286G>T; Asp1096Tyr

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 6

View BVdb publication page

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The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

Archives Of Medical Science : Ams

Bonaventura, Jiří J; Norambuena, Patricia P; Tomašov, Pavol P; Jindrová, Denisa D; Šedivá, Hana H; Macek, Milan M; Veselka, Josef J

Publication Date: 2019-05

Variant appearance in text: MYH7: 3286G>T; Asp1096Tyr

PubMed Link: 31110529

Variant Present in the following documents:

• AMS-15-33903-S1.pdf

View BVdb publication page

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYH7: 3286G>T; Asp1096Tyr; rs45478699

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Diagnostic value of partial exome sequencing in developmental disorders.

Plos One

Gieldon, Laura L; Mackenroth, Luisa L; Kahlert, Anne-Karin AK; Lemke, Johannes R JR; Porrmann, Joseph J; Schallner, Jens J; von der Hagen, Maja M; Markus, Susanne S; Weidensee, Sabine S; Novotna, Barbara B; Soerensen, Charlotte C; Klink, Barbara B; Wagner, Johannes J; Tzschach, Andreas A; Jahn, Arne A; Kuhlee, Franziska F; Hackmann, Karl K; Schrock, Evelin E; Di Donato, Nataliya N; Rump, Andreas A

Publication Date: 2018

Variant appearance in text: MYH7: 3286G>T; Asp1096Tyr

PubMed Link: 30091983

Variant Present in the following documents:

• pone.0201041.s009.xlsx, sheet 1

View BVdb publication page

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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

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

Kelly, Melissa A MA; Caleshu, Colleen C; Morales, Ana A; Buchan, Jillian J; Wolf, Zena Z; Harrison, Steven M SM; Cook, Stuart S; Dillon, Mitchell W MW; Garcia, John J; Haverfield, Eden E; Jongbloed, Jan D H JDH; Macaya, Daniela D; Manrai, Arjun A; Orland, Kate K; Richard, Gabriele G; Spoonamore, Katherine K; Thomas, Matthew M; Thomson, Kate K; Vincent, Lisa M LM; Walsh, Roddy R; Watkins, Hugh H; Whiffin, Nicola N; Ingles, Jodie J; van Tintelen, J Peter JP; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray R; Funke, Birgit B

Publication Date: 2018-03

Variant appearance in text: MYH7: Asp1096Tyr

PubMed Link: 29300372

Variant Present in the following documents:

• gim2017218x2.pdf

View BVdb publication page

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Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications.

Journal Of The American Heart Association

Orgeron, Gabriela M GM; James, Cynthia A CA; Te Riele, Anneline A; Tichnell, Crystal C; Murray, Brittney B; Bhonsale, Aditya A; Kamel, Ihab R IR; Zimmerman, Stephan L SL; Judge, Daniel P DP; Crosson, Jane J; Tandri, Harikrishna H; Calkins, Hugh H

Publication Date: 2017-06-06

Variant appearance in text: MYH7: Asp1096Tyr

PubMed Link: 28588093

Variant Present in the following documents:

• JAH3-6-e006242-s001.pdf
• JAH3-6-e006242.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MYH7: 3286G>T; Asp1096Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: MYH7: D1096Y; rs45478699

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

European Journal Of Human Genetics : Ejhg

Andreasen, Charlotte C; Nielsen, Jonas B JB; Refsgaard, Lena L; Holst, Anders G AG; Christensen, Alex H AH; Andreasen, Laura L; Sajadieh, Ahmad A; Haunsø, Stig S; Svendsen, Jesper H JH; Olesen, Morten S MS

Publication Date: 2013-09

Variant appearance in text: MYH7: D1096Y

PubMed Link: 23299917

Variant Present in the following documents:

• ejhg2012283a.pdf

View BVdb publication page

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Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

Clinical And Translational Science

Hershberger, Ray E RE; Parks, Sharie B SB; Kushner, Jessica D JD; Li, Duanxiang D; Ludwigsen, Susan S; Jakobs, Petra P; Nauman, Deirdre D; Burgess, Donna D; Partain, Julie J; Litt, Michael M

Publication Date: 2008-05

Variant appearance in text: MYH7: Asp1096Tyr

PubMed Link: 19412328

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations.

Trends In Cardiovascular Medicine

Buvoli, Massimo M; Hamady, Micah M; Leinwand, Leslie A LA; Knight, Rob R

Publication Date: 2008-05

Variant appearance in text: MYH7: D1096Y

PubMed Link: 18555187

Variant Present in the following documents:

• Main text

View BVdb publication page

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