Publications:

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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: MYL3: 170C>A; Ala57Asp

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine

Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X

Publication Date: 2021-07

Variant appearance in text: MYL3: 170C>A

PubMed Link: 34137518

Variant Present in the following documents:

• MGG3-9-e1709-s001.xlsx, sheet 1
• MGG3-9-e1709-s003.xlsx, sheet 1

View BVdb publication page

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Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine

Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X

Publication Date: 2021-07

Variant appearance in text: MYL3: 170C>A

PubMed Link: 34137518

Variant Present in the following documents:

• MGG3-9-e1709-s003.xlsx, sheet 1
• MGG3-9-e1709-s001.xlsx, sheet 1

View BVdb publication page

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Targeted Therapy in Cardiovascular Disease: A Precision Therapy Era.

Frontiers In Pharmacology

Xu, Mengda M; Song, Jiangping J

Publication Date: 2021

Variant appearance in text: MYL3: 170C>A; Ala57Asp

PubMed Link: 33935716

Variant Present in the following documents:

• Main text

View BVdb publication page

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Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.

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

Osborn, Daniel Peter Sayer DPS; Emrahi, Leila L; Clayton, Joshua J; Tabrizi, Mehrnoush Toufan MT; Wan, Alex Yui Bong AYB; Maroofian, Reza R; Yazdchi, Mohammad M; Garcia, Michael Leon Enrique MLE; Galehdari, Hamid H; Hesse, Camila C; Shariati, Gholamreza G; Mazaheri, Neda N; Sedaghat, Alireza A; Goullée, Hayley H; Laing, Nigel N; Jamshidi, Yalda Y; Tajsharghi, Homa H

Publication Date: 2021-04

Variant appearance in text: MYL3: 170C>A; Ala57Asp

PubMed Link: 33288880

Variant Present in the following documents:

• Main text
• 41436_2020_Article_1028.pdf
• 41436_2020_1028_MOESM1_ESM.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: MYL3: 170C>A; Ala57Asp; rs139794067

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Recent advances in genome editing for cardiovascular disease.

Current Opinion In Cardiology

Doerfler, Alexandria M AM; Walkey, Christopher J CJ; Lagor, William R WR

Publication Date: 2020-05

Variant appearance in text: MYL3: 170C>A; Ala57Asp

PubMed Link: 32073405

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

International Journal Of Molecular Sciences

Brodehl, Andreas A; Ebbinghaus, Hans H; Deutsch, Marcus-André MA; Gummert, Jan J; Gärtner, Anna A; Ratnavadivel, Sandra S; Milting, Hendrik H

Publication Date: 2019-09-06

Variant appearance in text: MYL3: A57D

PubMed Link: 31489928

Variant Present in the following documents:

• Main text

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: MYL3: 170C>A; Ala57Asp

PubMed Link: 31006259

Variant Present in the following documents:

• cir-140-184-s001.pdf

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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: MYL3: 170C>A; Ala57Asp; rs139794067

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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Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.

Pflugers Archiv : European Journal Of Physiology

Yadav, Sunil S; Sitbon, Yoel H YH; Kazmierczak, Katarzyna K; Szczesna-Cordary, Danuta D

Publication Date: 2019-05

Variant appearance in text: MYL3: A57D

PubMed Link: 30706179

Variant Present in the following documents:

• Main text

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: N/A

PubMed Link: 30681346

Variant Present in the following documents:

View BVdb publication page

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Modelling sarcomeric cardiomyopathies with human cardiomyocytes derived from induced pluripotent stem cells.

The Journal Of Physiology

Sewanan, Lorenzo R LR; Campbell, Stuart G SG

Publication Date: 2020-07

Variant appearance in text: MYL3: 170C>A; A57D

PubMed Link: 30624779

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

Circulation

Ho, Carolyn Y CY; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Cirino, Allison L AL; Fox, Jonathan C JC; Lakdawala, Neal K NK; Ware, James S JS; Caleshu, Colleen A CA; Helms, Adam S AS; Colan, Steven D SD; Girolami, Francesca F; Cecchi, Franco F; Seidman, Christine E CE; Sajeev, Gautam G; Signorovitch, James J; Green, Eric M EM; Olivotto, Iacopo I

Publication Date: 2018-10-02

Variant appearance in text: MYL3: 170C>A; Ala57Asp

PubMed Link: 30297972

Variant Present in the following documents:

• cir-138-1387-s001.pdf

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Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells.

Circulation

Ma, Ning N; Zhang, Joe Z JZ; Itzhaki, Ilanit I; Zhang, Sophia L SL; Chen, Haodong H; Haddad, Francois F; Kitani, Tomoya T; Wilson, Kitchener D KD; Tian, Lei L; Shrestha, Rajani R; Wu, Haodi H; Lam, Chi Keung CK; Sayed, Nazish N; Wu, Joseph C JC

Publication Date: 2018-12-04

Variant appearance in text: MYL3: 170C>A; A57D

PubMed Link: 29914921

Variant Present in the following documents:

• Main text

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: MYL3: 170C>A; A57D

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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Identification of Misclassified ClinVar Variants via Disease Population Prevalence.

American Journal Of Human Genetics

Shah, Naisha N; Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Sainger, Rachana R; Caskey, C Thomas CT; Venter, J Craig JC; Telenti, Amalio A

Publication Date: 2018-04-05

Variant appearance in text: rs139794067

PubMed Link: 29625023

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.

European Journal Of Human Genetics : Ejhg

Broendberg, Anders Krogh AK; Christiansen, Morten Krogh MK; Nielsen, Jens Cosedis JC; Pedersen, Lisbeth Noerum LN; Jensen, Henrik Kjaerulf HK

Publication Date: 2018-03

Variant appearance in text: MYL3: 170C>A; Ala57Asp

PubMed Link: 29343803

Variant Present in the following documents:

• Main text

View BVdb publication page

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Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.

Data In Brief

Dejgaard, Lars A LA; Haland, Trine F TF; Lie, Oyvind H OH; Ribe, Margareth M; Bjune, Thea T; Leren, Ida Skrinde IS; Berge, Knut Erik KE; Edvardsen, Thor T; Haugaa, Kristina H KH

Publication Date: 2017-12

Variant appearance in text: MYL3: A57D; rs139794067

PubMed Link: 28971120

Variant Present in the following documents:

• main.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: MYL3: 170C>A; Ala57Asp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: MYL3: 170C>A; Ala57Asp; rs139794067

PubMed Link: 27483260

Variant Present in the following documents:

• Main text
• ijms-17-01239.pdf

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: MYL3: A57D; rs139794067

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 11

View BVdb publication page

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Genetic profile of hypertrophic cardiomyopathy in Tunisia: Is it different?

Global Cardiology Science & Practice

Jaafar, Nawel N; Girolami, Francesca F; Zairi, Ihsen I; Kraiem, Sondes S; Hammami, Mohamed M; Olivotto, Iacopo I

Publication Date: 2015

Variant appearance in text: MYL3: A57D

PubMed Link: 26779504

Variant Present in the following documents:

• Main text
• gcsp-2015-0016.pdf

View BVdb publication page

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