Publications:

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Genetic characterization of juvenile sudden cardiac arrest and death in Tuscany: The ToRSADE registry.

Frontiers In Cardiovascular Medicine

Girolami, Francesca F; Spinelli, Valentina V; Maurizi, Niccolò N; Focardi, Martina M; Nesi, Gabriella G; Maio, Vincenza V; Grifoni, Rossella R; Albora, Giuseppe G; Bertaccini, Bruno B; Targetti, Mattia M; Coppini, Raffaele R; Favilli, Silvia S; Olivotto, Iacopo I; Cerbai, Elisabetta E

Publication Date: 2022

Variant appearance in text: MYH7: 2890G>C; Val964Leu

PubMed Link: 36588553

Variant Present in the following documents:

• Main text
• fcvm-09-1080608.pdf

View BVdb publication page

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Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.

Circulation. Genomic And Precision Medicine

van der Meulen, Marijke H MH; Herkert, Johanna C JC; den Boer, Susanna L SL; du Marchie Sarvaas, Gideon J GJ; Blom, Nico A NA; Ten Harkel, Arend D J ADJ; Breur, Hans M P J HMPJ; Rammeloo, Lukas A J LAJ; Tanke, Ronald B RB; Marcelis, Carlo C; van de Laar, Ingrid M B H IMBH; Verhagen, Judith M A JMA; Lekanne Dit Deprez, Ronald H RH; Barge-Schaapveld, Daniela Q C M DQCM; Baas, Annette F AF; Sammani, Arjan A; Christiaans, Imke I; van Tintelen, J Peter JP; Dalinghaus, Michiel M

Publication Date: 2022-10

Variant appearance in text: MYH7: 2890G>C; Val964Leu

PubMed Link: 36178741

Variant Present in the following documents:

• hcg-15-e002981-s001.pdf

View BVdb publication page

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Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics.

Frontiers In Genetics

Alimohamed, Mohamed Z MZ; Westers, Helga H; Vos, Yvonne J YJ; Van der Velde, K Joeri KJ; Sijmons, Rolf H RH; Van der Zwaag, Paul A PA; Sikkema-Raddatz, Birgit B; Jongbloed, Jan D H JDH

Publication Date: 2022

Variant appearance in text: MYH7: 2890G>C

PubMed Link: 35299955

Variant Present in the following documents:

• Main text
• fgene-13-824510.pdf

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: 2890G>C; V964L

PubMed Link: 33495596

Variant Present in the following documents:

• EMS114661-supplement-Supplementary_Tables.xlsx, sheet 3

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: MYH7: Val964Leu

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

View BVdb publication page

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Sequence variants with large effects on cardiac electrophysiology and disease.

Nature Communications

Norland, Kristjan K; Sveinbjornsson, Gardar G; Thorolfsdottir, Rosa B RB; Davidsson, Olafur B OB; Tragante, Vinicius V; Rajamani, Sridharan S; Helgadottir, Anna A; Gretarsdottir, Solveig S; van Setten, Jessica J; Asselbergs, Folkert W FW; Sverrisson, Jon Th JT; Stephensen, Sigurdur S SS; Oskarsson, Gylfi G; Sigurdsson, Emil L EL; Andersen, Karl K; Danielsen, Ragnar R; Thorgeirsson, Gudmundur G; Thorsteinsdottir, Unnur U; Arnar, David O DO; Sulem, Patrick P; Holm, Hilma H; Gudbjartsson, Daniel F DF; Stefansson, Kari K

Publication Date: 2019-10-22

Variant appearance in text: MYH7: Val964Leu; rs45496496

PubMed Link: 31641117

Variant Present in the following documents:

• 41467_2019_12682_MOESM5_ESM.xlsx, sheet 1
• 41467_2019_12682_MOESM17_ESM.xlsx, sheet 1

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: 2890G>C; Val964Leu; rs45496496

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: 2890G>C; Val964Leu; rs45496496

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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: 2890G>C; V964L

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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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: rs45496496

PubMed Link: 29420653

Variant Present in the following documents:

• pone.0192446.s009.xlsx, sheet 2

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: 2890G>C; V964L; rs45496496

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: 2890G>C; Val964Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

International Journal Of Molecular Medicine

Cecconi, Massimiliano M; Parodi, Maria I MI; Formisano, Francesco F; Spirito, Paolo P; Autore, Camillo C; Musumeci, Maria B MB; Favale, Stefano S; Forleo, Cinzia C; Rapezzi, Claudio C; Biagini, Elena E; Davì, Sabrina S; Canepa, Elisabetta E; Pennese, Loredana L; Castagnetta, Mauro M; Degiorgio, Dario D; Coviello, Domenico A DA

Publication Date: 2016-10

Variant appearance in text: MYH7: 2890G>C; Val964Leu

PubMed Link: 27600940

Variant Present in the following documents:

• Main text
• ijmm-38-04-1111.pdf

View BVdb publication page

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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: MYH7: 2890G>C

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

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: MYH7: Val964Leu; rs45496496

PubMed Link: 22337857

Variant Present in the following documents:

• Main text

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: N/A

PubMed Link: 19412328

Variant Present in the following documents:

View BVdb publication page

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