Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MYH7: 2156G>A; Arg719Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Lineage-specific regulatory changes in hypertrophic cardiomyopathy unraveled by single-nucleus RNA-seq and spatial transcriptomics.

Cell Discovery

Liu, Xuanyu X; Yin, Kunlun K; Chen, Liang L; Chen, Wen W; Li, Wenke W; Zhang, Taojun T; Sun, Yang Y; Yuan, Meng M; Wang, Hongyue H; Song, Yunhu Y; Wang, Shuiyun S; Hu, Shengshou S; Zhou, Zhou Z

Publication Date: 2023-01-17

Variant appearance in text: MYH7: 2156G>A; Arg719Gln

PubMed Link: 36646705

Variant Present in the following documents:

• 41421_2022_490_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.

Human Genomics

Vadgama, Nirmal N; Ameen, Mohamed M; Sundaram, Laksshman L; Gaddam, Sadhana S; , ; Gifford, Casey C; Nasir, Jamal J; Karakikes, Ioannis I

Publication Date: 2022-11-10

Variant appearance in text: MYH7: Arg719Gln; rs121913641

PubMed Link: 36357925

Variant Present in the following documents:

• Main text
• 40246_2022_Article_420.pdf

View BVdb publication page

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Myosin Heavy Chain Converter Domain Mutations Drive Early-Stage Changes in Extracellular Matrix Dynamics in Hypertrophic Cardiomyopathy.

Frontiers In Cell And Developmental Biology

Hsieh, Jeanne J; Becklin, Kelsie L KL; Givens, Sophie S; Komosa, Elizabeth R ER; Lloréns, Juan E Abrahante JEA; Kamdar, Forum F; Moriarity, Branden S BS; Webber, Beau R BR; Singh, Bhairab N BN; Ogle, Brenda M BM

Publication Date: 2022

Variant appearance in text: MYH7: R719Q

PubMed Link: 35784482

Variant Present in the following documents:

• DataSheet1.pdf

View BVdb publication page

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Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.

Npj Genomic Medicine

Lesurf, Robert R; Said, Abdelrahman A; Akinrinade, Oyediran O; Breckpot, Jeroen J; Delfosse, Kathleen K; Liu, Ting T; Yao, Roderick R; Persad, Gabrielle G; McKenna, Fintan F; Noche, Ramil R RR; Oliveros, Winona W; Mattioli, Kaia K; Shah, Shreya S; Miron, Anastasia A; Yang, Qian Q; Meng, Guoliang G; Yue, Michelle Chan Seng MCS; Sung, Wilson W L WWL; Thiruvahindrapuram, Bhooma B; Lougheed, Jane J; Oechslin, Erwin E; Mondal, Tapas T; Bergin, Lynn L; Smythe, John J; Jayappa, Shashank S; Rao, Vinay J VJ; Shenthar, Jayaprakash J; Dhandapany, Perundurai S PS; Semsarian, Christopher C; Weintraub, Robert G RG; Bagnall, Richard D RD; Ingles, Jodie J; , ; Melé, Marta M; Maass, Philipp G PG; Ellis, James J; Scherer, Stephen W SW; Mital, Seema S

Publication Date: 2022-03-14

Variant appearance in text: MYH7: 2156G>A; R719Q

PubMed Link: 35288587

Variant Present in the following documents:

• 41525_2022_288_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

European Heart Journal

Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY

Publication Date: 2021-05-21

Variant appearance in text: MYH7: 2156G>A; Arg719Gln

PubMed Link: 33769460

Variant Present in the following documents:

• ehab148_supplementary_appendix.pdf

View BVdb publication page

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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Bmc Cardiovascular Disorders

Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J

Publication Date: 2021-03-05

Variant appearance in text: MYH7: 2156G>A; Arg719Gln

PubMed Link: 33673806

Variant Present in the following documents:

• 12872_2021_1927_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Nature Genetics

Tadros, Rafik R; Francis, Catherine C; Xu, Xiao X; Vermeer, Alexa M C AMC; Harper, Andrew R AR; Huurman, Roy R; Kelu Bisabu, Ken K; Walsh, Roddy R; Hoorntje, Edgar T ET; Te Rijdt, Wouter P WP; Buchan, Rachel J RJ; van Velzen, Hannah G HG; van Slegtenhorst, Marjon A MA; Vermeulen, Jentien M JM; Offerhaus, Joost Allard JA; Bai, Wenjia W; de Marvao, Antonio A; Lahrouchi, Najim N; Beekman, Leander L; Karper, Jacco C JC; Veldink, Jan H JH; Kayvanpour, Elham E; Pantazis, Antonis A; Baksi, A John AJ; Whiffin, Nicola N; Mazzarotto, Francesco F; Sloane, Geraldine G; Suzuki, Hideaki H; Schneider-Luftman, Deborah D; Elliott, Paul P; Richard, Pascale P; Ader, Flavie F; Villard, Eric E; Lichtner, Peter P; Meitinger, Thomas T; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Thain, Andrew A; McCarty, David D; Hegele, Robert A RA; Roberts, Jason D JD; Amyot, Julie J; Dubé, Marie-Pierre MP; Cadrin-Tourigny, Julia J; Giraldeau, Geneviève G; L'Allier, Philippe L PL; Garceau, Patrick P; Tardif, Jean-Claude JC; Boekholdt, S Matthijs SM; Lumbers, R Thomas RT; Asselbergs, Folkert W FW; Barton, Paul J R PJR; Cook, Stuart A SA; Prasad, Sanjay K SK; O'Regan, Declan P DP; van der Velden, Jolanda J; Verweij, Karin J H KJH; Talajic, Mario M; Lettre, Guillaume G; Pinto, Yigal M YM; Meder, Benjamin B; Charron, Philippe P; de Boer, Rudolf A RA; Christiaans, Imke I; Michels, Michelle M; Wilde, Arthur A M AAM; Watkins, Hugh H; Matthews, Paul M PM; Ware, James S JS; Bezzina, Connie R CR

Publication Date: 2021-02

Variant appearance in text: MYH7: 2156G>A; R719Q

PubMed Link: 33495596

Variant Present in the following documents:

• EMS114661-supplement-Supplementary_Tables.xlsx, sheet 3

View BVdb publication page

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Human Cardiac Organoids for Modeling Genetic Cardiomyopathy.

Cells

Filippo Buono, Michele M; von Boehmer, Lisa L; Strang, Jaan J; Hoerstrup, Simon P SP; Emmert, Maximilian Y MY; Nugraha, Bramasta B

Publication Date: 2020-07-20

Variant appearance in text: MYH7: Arg719Gln

PubMed Link: 32698471

Variant Present in the following documents:

• Main text
• cells-09-01733.pdf

View BVdb publication page

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Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.

Journal Of Clinical Medicine

Magrì, Damiano D; Mastromarino, Vittoria V; Gallo, Giovanna G; Zachara, Elisabetta E; Re, Federica F; Agostoni, Piergiuseppe P; Giordano, Dario D; Rubattu, Speranza S; Forte, Maurizio M; Cotugno, Maria M; Torrisi, Maria Rosaria MR; Petrucci, Simona S; Germani, Aldo A; Savio, Camilla C; Maruotti, Antonello A; Volpe, Massimo M; Autore, Camillo C; Piane, Maria M; Musumeci, Beatrice B

Publication Date: 2020-05-28

Variant appearance in text: MYH7: Arg719Gln

PubMed Link: 32481709

Variant Present in the following documents:

• Main text
• jcm-09-01636.pdf

View BVdb publication page

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Genetics of inherited cardiomyopathies in Africa.

Cardiovascular Diagnosis And Therapy

Shaboodien, Gasnat G; Spracklen, Timothy F TF; Kamuli, Stephen S; Ndibangwi, Polycarp P; Van Niekerk, Carla C; Ntusi, Ntobeko A B NAB

Publication Date: 2020-04

Variant appearance in text: MYH7: Arg719Gln

PubMed Link: 32420109

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Genes

Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Diaz-Manera, Jordi J; Alonso-Perez, Jorge J; Gallardo, Eduard E; Nascimento, Andres A; Ortez, Carlos C; Natera-de Benito, Daniel D; Olive, Montse M; Gonzalez-Mera, Laura L; Munain, Adolfo Lopez de AL; Zulaica, Miren M; Poza, Juan Jose JJ; Jerico, Ivonne I; Torne, Laura L; Riera, Pau P; Milisenda, Jose J; Sanchez, Aurora A; Garrabou, Gloria G; Llano, Isabel I; Madruga-Garrido, Marcos M; Gallano, Pia P

Publication Date: 2020-05-11

Variant appearance in text: MYH7: 2156G>A; Arg719Gln

PubMed Link: 32403337

Variant Present in the following documents:

• genes-11-00539-s001.pdf

View BVdb publication page

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Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy.

Circulation

Toepfer, Christopher N CN; Garfinkel, Amanda C AC; Venturini, Gabriela G; Wakimoto, Hiroko H; Repetti, Giuliana G; Alamo, Lorenzo L; Sharma, Arun A; Agarwal, Radhika R; Ewoldt, Jourdan F JF; Cloonan, Paige P; Letendre, Justin J; Lun, Mingyue M; Olivotto, Iacopo I; Colan, Steve S; Ashley, Euan E; Jacoby, Daniel D; Michels, Michelle M; Redwood, Charles S CS; Watkins, Hugh C HC; Day, Sharlene M SM; Staples, James F JF; Padrón, Raúl R; Chopra, Anant A; Ho, Carolyn Y CY; Chen, Christopher S CS; Pereira, Alexandre C AC; Seidman, Jonathan G JG; Seidman, Christine E CE

Publication Date: 2020-03-10

Variant appearance in text: MYH7: R719Q

PubMed Link: 31983222

Variant Present in the following documents:

• Main text
• cir-141-828.pdf

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MYH7: 2156G>A; R719Q

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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: 2156G>A; Arg719Gln

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 6
• 13073_2019_683_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: MYH7: 2156G>A; R719Q

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.

Circulation

Norrish, Gabrielle G; Jager, Joanna J; Field, Ella E; Quinn, Ellie E; Fell, Hannah H; Lord, Emma E; Cicerchia, Marcos N MN; Ochoa, Juan Pablo JP; Cervi, Elena E; Elliott, Perry M PM; Kaski, Juan Pablo JP

Publication Date: 2019-07-16

Variant appearance in text: MYH7: 2156G>A; Arg719Gln

PubMed Link: 31006259

Variant Present in the following documents:

• cir-140-184-s001.pdf

View BVdb publication page

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: MYH7: 2156G>A; Arg719Gln; rs121913641

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

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: Arg719Gln

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Perspectives on current recommendations for genetic testing in HCM.

Global Cardiology Science & Practice

Monserrat, Lorenzo L

Publication Date: 2018-08-12

Variant appearance in text: MYH7: Arg719Gln

PubMed Link: 30393635

Variant Present in the following documents:

• Main text
• gcsp-2018-3-e201823.pdf

View BVdb publication page

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Cardiomyopathies and Related Changes in Contractility of Human Heart Muscle.

International Journal Of Molecular Sciences

Vikhorev, Petr G PG; Vikhoreva, Natalia N NN

Publication Date: 2018-07-31

Variant appearance in text: MYH7: R719Q

PubMed Link: 30065175

Variant Present in the following documents:

• Main text
• ijms-19-02234.pdf

View BVdb publication page

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Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

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

Mazzarotto, Francesco F; Girolami, Francesca F; Boschi, Beatrice B; Barlocco, Fausto F; Tomberli, Alessia A; Baldini, Katia K; Coppini, Raffaele R; Tanini, Ilaria I; Bardi, Sara S; Contini, Elisa E; Cecchi, Franco F; Pelo, Elisabetta E; Cook, Stuart A SA; Cerbai, Elisabetta E; Poggesi, Corrado C; Torricelli, Francesca F; Walsh, Roddy R; Olivotto, Iacopo I

Publication Date: 2019-02

Variant appearance in text: MYH7: 2156G>A; R719Q

PubMed Link: 29875424

Variant Present in the following documents:

• 41436_2018_46_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation.

Scientific Reports

Wang, Jie J; Wan, Ke K; Sun, Jiayu J; Li, Weihao W; Liu, Hong H; Han, Yuchi Y; Chen, Yucheng Y

Publication Date: 2018-01-17

Variant appearance in text: MYH7: Arg719Gln

PubMed Link: 29343710

Variant Present in the following documents:

• Main text
• 41598_2018_Article_19372.pdf

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: Arg719Gln

PubMed Link: 29300372

Variant Present in the following documents:

• gim2017218x2.pdf

View BVdb publication page

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Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Plos One

Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R

Publication Date: 2017

Variant appearance in text: MYH7: 2156G>A; R719Q; rs121913641

PubMed Link: 28771489

Variant Present in the following documents:

• pone.0181465.s002.xlsx, sheet 1

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: 2156G>A; Arg719Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.

Genome Medicine

Kobayashi, Yuya Y; Yang, Shan S; Nykamp, Keith K; Garcia, John J; Lincoln, Stephen E SE; Topper, Scott E SE

Publication Date: 2017-02-06

Variant appearance in text: MYH7: 2156G>A; Arg719Gln

PubMed Link: 28166811

Variant Present in the following documents:

• Main text
• 13073_2017_Article_403.pdf

View BVdb publication page

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: MYH7: 2156G>A; R719Q

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s004.xlsx, sheet 1
• pone.0170843.s003.xlsx, sheet 1

View BVdb publication page

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A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

International Journal Of Molecular Sciences

Rubattu, Speranza S; Bozzao, Cristina C; Pennacchini, Ermelinda E; Pagannone, Erika E; Musumeci, Beatrice Maria BM; Piane, Maria M; Germani, Aldo A; Savio, Camilla C; Francia, Pietro P; Volpe, Massimo M; Autore, Camillo C; Chessa, Luciana L

Publication Date: 2016-07-30

Variant appearance in text: MYH7: 2156G>A; Arg719Gln; rs121913641

PubMed Link: 27483260

Variant Present in the following documents:

• Main text
• ijms-17-01239.pdf

View BVdb publication page

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The association between brain natriuretic peptide and tissue Doppler parameters in children with hypertrophic cardiomyopathy.

Bosnian Journal Of Basic Medical Sciences

Öner, Taliha T; Özdemir, Rahmi R; Hazan, Filiz F; Karadeniz, Cem C; Doksoz, Önder Ö; Yilmazer, Murat Muhtar MM; Meşe, Timur T; Tavli, Vedide V

Publication Date: 2016-01-01

Variant appearance in text: MYH7: Arg719Gln

PubMed Link: 26773184

Variant Present in the following documents:

• Main text

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: CMH1: R719Q

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: MYH7: R719Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

Heart (British Cardiac Society)

García-Giustiniani, Diego D; Arad, Michael M; Ortíz-Genga, Martín M; Barriales-Villa, Roberto R; Fernández, Xusto X; Rodríguez-García, Isabel I; Mazzanti, Andrea A; Veira, Elena E; Maneiro, Emilia E; Rebolo, Paula P; Lesende, Iván I; Cazón, Laura L; Freimark, Dov D; Gimeno-Blanes, Juan Ramón JR; Seidman, Christine C; Seidman, Jonathan J; McKenna, William W; Monserrat, Lorenzo L

Publication Date: 2015-07

Variant appearance in text: MYH7: Arg719Gln

PubMed Link: 25935763

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diltiazem treatment for pre-clinical hypertrophic cardiomyopathy sarcomere mutation carriers: a pilot randomized trial to modify disease expression.

Jacc. Heart Failure

Ho, Carolyn Y CY; Lakdawala, Neal K NK; Cirino, Allison L AL; Lipshultz, Steven E SE; Sparks, Elizabeth E; Abbasi, Siddique A SA; Kwong, Raymond Y RY; Antman, Elliott M EM; Semsarian, Christopher C; González, Arantxa A; López, Begoña B; Diez, Javier J; Orav, E John EJ; Colan, Steven D SD; Seidman, Christine E CE

Publication Date: 2015-02

Variant appearance in text: MYH7: Arg719Gln

PubMed Link: 25543971

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

Journal Of The American College Of Cardiology

Coppini, Raffaele R; Ho, Carolyn Y CY; Ashley, Euan E; Day, Sharlene S; Ferrantini, Cecilia C; Girolami, Francesca F; Tomberli, Benedetta B; Bardi, Sara S; Torricelli, Francesca F; Cecchi, Franco F; Mugelli, Alessandro A; Poggesi, Corrado C; Tardiff, Jil J; Olivotto, Iacopo I

Publication Date: 2014-12-23

Variant appearance in text: MYH7: 2156G>A; Arg719Gln

PubMed Link: 25524337

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing.

Journal Of Translational Medicine

Li, Zongzhe Z; Huang, Jin J; Zhao, Jinzhao J; Chen, Chen C; Wang, Hong H; Ding, Hu H; Wang, Dao Wu DW; Wang, Dao Wen DW

Publication Date: 2014-06-17

Variant appearance in text: MYH7: R719Q; rs121913641

PubMed Link: 24938736

Variant Present in the following documents:

• Main text
• 1479-5876-12-173.pdf

View BVdb publication page

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Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.

Circulation. Cardiovascular Genetics

Valente, Anne Marie AM; Lakdawala, Neal K NK; Powell, Andrew J AJ; Evans, Sarah P SP; Cirino, Allison L AL; Orav, E John EJ; MacRae, Calum A CA; Colan, Steven D SD; Ho, Carolyn Y CY

Publication Date: 2013-06

Variant appearance in text: MYH7: Arg719Gln

PubMed Link: 23690394

Variant Present in the following documents:

• Main text

View BVdb publication page

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Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Journal Of Cardiovascular Translational Research

Kassem, Heba Sh HSh; Azer, Remon S RS; Saber-Ayad, Maha M; Ayad, Maha S MS; Moharem-Elgamal, Sarah S; Magdy, Gehan G; Elguindy, Ahmed A; Cecchi, Franco F; Olivotto, Iacopo I; Yacoub, Magdi H MH

Publication Date: 2013-02

Variant appearance in text: MYH7: Arg719Gln

PubMed Link: 23233322

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• Main text

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A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.

Bmc Medical Genetics

Teirlinck, Carolien H CH; Senni, Faïza F; Malti, Rajae El RE; Majoor-Krakauer, Danielle D; Fellmann, Florence F; Millat, Gilles G; André-Fouët, Xavier X; Pernot, François F; Stumpf, Michaël M; Boutarin, Jean J; Bouvagnet, Patrice P

Publication Date: 2012-11-10

Variant appearance in text: MYH7: Arg719Gln

PubMed Link: 23140321

Variant Present in the following documents:

• Main text
• 1471-2350-13-105.pdf

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Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history.

Circulation Research

Seidman, Christine E CE; Seidman, J G JG

Publication Date: 2011-03-18

Variant appearance in text: MYH7: Arg719Gln

PubMed Link: 21415408

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Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.

Circulation

Landstrom, Andrew P AP; Ackerman, Michael J MJ

Publication Date: 2010-12-07

Variant appearance in text: MYH7: R719Q

PubMed Link: 21135372

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Static and dynamic properties of the HCM myocardium.

Journal Of Molecular And Cellular Cardiology

Dewey, Shannamar S; Xu, Qian Q; Gomes, Aldrin A

Publication Date: 2010-11

Variant appearance in text: MYH7: R719Q

PubMed Link: 20705073

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Normal passive viscoelasticity but abnormal myofibrillar force generation in human hypertrophic cardiomyopathy.

Journal Of Molecular And Cellular Cardiology

Hoskins, Anita C AC; Jacques, Adam A; Bardswell, Sonya C SC; McKenna, William J WJ; Tsang, Victor V; dos Remedios, Cristobal G CG; Ehler, Elisabeth E; Adams, Kim K; Jalilzadeh, Shapour S; Avkiran, Metin M; Watkins, Hugh H; Redwood, Charles C; Marston, Steven B SB; Kentish, Jonathan C JC

Publication Date: 2010-11

Variant appearance in text: MYH7: R719Q

PubMed Link: 20615414

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Insights into human beta-cardiac myosin function from single molecule and single cell studies.

Journal Of Cardiovascular Translational Research

Sivaramakrishnan, Sivaraj S; Ashley, Euan E; Leinwand, Leslie L; Spudich, James A JA

Publication Date: 2009-12

Variant appearance in text: MYH7: R719Q

PubMed Link: 20560001

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Hypertrophic cardiomyopathy.

Heart Failure Clinics

Ho, Carolyn Y CY

Publication Date: 2010-04

Variant appearance in text: MYH7: Arg719Gln

PubMed Link: 20347784

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Serial observations and mutational analysis of an adoptee with family history of hypertrophic cardiomyopathy.

Cardiology Research And Practice

Harris, Bronwyn B; Pfotenhauer, Jean P JP; Silverstein, Cheri A CA; Markham, Larry W LW; Schafer, Kim K; Exil, Vernat J VJ; Hong, Charles C CC

Publication Date: 2010

Variant appearance in text: MYH7: R719Q

PubMed Link: 20309391

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Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

Circulation. Heart Failure

Theis, Jeanne L JL; Bos, J Martijn JM; Theis, Jason D JD; Miller, Dylan V DV; Dearani, Joseph A JA; Schaff, Hartzell V HV; Gersh, Bernard J BJ; Ommen, Steve R SR; Moss, Richard L RL; Ackerman, Michael J MJ

Publication Date: 2009-07

Variant appearance in text: MYH7: R719Q

PubMed Link: 19808356

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Contemporary treatment of hypertrophic cardiomyopathy.

Texas Heart Institute Journal

Marian, Ali J AJ

Publication Date: 2009

Variant appearance in text: MYH7: R719Q

PubMed Link: 19568388

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The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy.

Cardiovascular Research

Jacques, Adam M AM; Briceno, Natalia N; Messer, Andrew E AE; Gallon, Clare E CE; Jalilzadeh, Shapour S; Garcia, Edwin E; Kikonda-Kanda, Gaelle G; Goddard, Jennifer J; Harding, Sian E SE; Watkins, Hugh H; Esteban, M Tomé MT; Tsang, Victor T VT; McKenna, William J WJ; Marston, Steven B SB

Publication Date: 2008-08-01

Variant appearance in text: MYH7: Arg719Gln

PubMed Link: 18411228

Variant Present in the following documents:

• Main text
• cvn094.pdf

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Shared genetic causes of cardiac hypertrophy in children and adults.

The New England Journal Of Medicine

Morita, Hiroyuki H; Rehm, Heidi L HL; Menesses, Andres A; McDonough, Barbara B; Roberts, Amy E AE; Kucherlapati, Raju R; Towbin, Jeffrey A JA; Seidman, J G JG; Seidman, Christine E CE

Publication Date: 2008-05-01

Variant appearance in text: MYH7: Arg719Gln

PubMed Link: 18403758

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Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.

Journal Of Clinical Pathology

Yu, B B; Sawyer, N A NA; Caramins, M M; Yuan, Z G ZG; Saunderson, R B RB; Pamphlett, R R; Richmond, D R DR; Jeremy, R W RW; Trent, R J RJ

Publication Date: 2005-05

Variant appearance in text: MYH7: R719Q

PubMed Link: 15858117

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