Publications:

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Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.

Circulation. Genomic And Precision Medicine

Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW

Publication Date: 2022-10-20

Variant appearance in text: MYH7: Asp955Asn; rs886039204

PubMed Link: 36264615

Variant Present in the following documents:

• hcg-15-e003704-s001.pdf

View BVdb publication page

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A transcriptional network of cell cycle dysregulation in noninvasive papillary urothelial carcinoma.

Scientific Reports

Warrick, Joshua I JI; Knowles, Margaret A MA; Hurst, Carolyn D CD; Shuman, Lauren L; Raman, Jay D JD; Walter, Vonn V; Putt, Jeffrey J; Dyrskjøt, Lars L; Groeneveld, Clarice C; Castro, Mauro A A MAA; Robertson, A Gordon AG; DeGraff, David J DJ

Publication Date: 2022-10-03

Variant appearance in text: MYH7: 2863G>A; D955N

PubMed Link: 36192513

Variant Present in the following documents:

• 41598_2022_20927_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?

Journal Of Cardiovascular Development And Disease

Seidel, Franziska F; Laser, Kai Thorsten KT; Klingel, Karin K; Dartsch, Josephine J; Theisen, Simon S; Pickardt, Thomas T; Holtgrewe, Manuel M; Gärtner, Anna A; Berger, Felix F; Beule, Dieter D; Milting, Hendrik H; Schubert, Stephan S; Klaassen, Sabine S; Kühnisch, Jirko J

Publication Date: 2022-07-05

Variant appearance in text: MYH7: 2863G>A; D955N

PubMed Link: 35877578

Variant Present in the following documents:

• jcdd-09-00216.pdf

View BVdb publication page

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Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: MYH7: D955N

PubMed Link: 34819141

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2112.pdf

View BVdb publication page

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Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: MYH7: D955N

PubMed Link: 34819141

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2112.pdf

View BVdb publication page

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Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

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

Mazzarotto, Francesco F; Hawley, Megan H MH; Beltrami, Matteo M; Beekman, Leander L; de Marvao, Antonio A; McGurk, Kathryn A KA; Statton, Ben B; Boschi, Beatrice B; Girolami, Francesca F; Roberts, Angharad M AM; Lodder, Elisabeth M EM; Allouba, Mona M; Romeih, Soha S; Aguib, Yasmine Y; Baksi, A John AJ; Pantazis, Antonis A; Prasad, Sanjay K SK; Cerbai, Elisabetta E; Yacoub, Magdi H MH; O'Regan, Declan P DP; Cook, Stuart A SA; Ware, James S JS; Funke, Birgit B; Olivotto, Iacopo I; Bezzina, Connie R CR; Barton, Paul J R PJR; Walsh, Roddy R

Publication Date: 2021-05

Variant appearance in text: MYH7: 2863G>A; Asp955Asn

PubMed Link: 33500567

Variant Present in the following documents:

• 41436_2020_1049_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Possible Susceptibility Genes for Intervention against Chemotherapy-Induced Cardiotoxicity.

Oxidative Medicine And Cellular Longevity

Yang, Xinyu X; Li, Guoping G; Yang, Tao T; Guan, Manke M; An, Na N; Yang, Fan F; Dai, Qianqian Q; Zhong, Changming C; Luo, Changyong C; Gao, Yonghong Y; Das, Saumya S; Xing, Yanwei Y; Shang, Hongcai H

Publication Date: 2020

Variant appearance in text: MYH7: 2863G>A

PubMed Link: 33110473

Variant Present in the following documents:

• Main text
• OMCL2020-4894625.pdf

View BVdb publication page

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Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

Journal Of The American Heart Association

van Waning, Jaap I JI; Moesker, Joost J; Heijsman, Daphne D; Boersma, Eric E; Majoor-Krakauer, Danielle D

Publication Date: 2019-12-03

Variant appearance in text: MYH7: 2863G>A; Asp955Asn

PubMed Link: 31771441

Variant Present in the following documents:

• JAH3-8-e012993.pdf
• JAH3-8-e012993-s001.pdf

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: 2863G>A; D955N

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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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: 2863G>A; Asp955Asn; rs886039204

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: 2863G>A; Asp955Asn

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: MYH7: D955N

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy.

Medicina (Kaunas, Lithuania)

Abdallah, Atiyeh M AM; Carlus, S Justin SJ; Al-Mazroea, Abdulhadi H AH; Alluqmani, Mohammad M; Almohammadi, Yousef Y; Bhuiyan, Zahurul A ZA; Al-Harbi, Khalid M KM

Publication Date: 2019-01-15

Variant appearance in text: MYH7: Asp955Asn

PubMed Link: 30650640

Variant Present in the following documents:

• Main text
• medicina-55-00017.pdf

View BVdb publication page

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The pathogenicity of genetic variants previously associated with left ventricular non-compaction.

Molecular Genetics & Genomic Medicine

Abbasi, Yeganeh Y; Jabbari, Javad J; Jabbari, Reza R; Yang, Ren-Qiang RQ; Risgaard, Bjarke B; Køber, Lars L; Haunsø, Stig S; Tfelt-Hansen, Jacob J

Publication Date: 2016-03

Variant appearance in text: MYH7: D955N

PubMed Link: 27066506

Variant Present in the following documents:

• Main text
• MGG3-4-135-s001.xlsx, sheet 1
• MGG3-4-135.pdf

View BVdb publication page

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Potential genetic predisposition for anthracycline-associated cardiomyopathy in families with dilated cardiomyopathy.

Open Heart

Wasielewski, Marijke M; van Spaendonck-Zwarts, Karin Y KY; Westerink, Nico-Derk L ND; Jongbloed, Jan D H JD; Postma, Aleida A; Gietema, Jourik A JA; van Tintelen, J Peter JP; van den Berg, Maarten P MP

Publication Date: 2014

Variant appearance in text: MYH7: 2863G>A; Asp955Asn

PubMed Link: 25332820

Variant Present in the following documents:

• Main text
• openhrt-2014-000116.pdf

View BVdb publication page

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