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Ludolf G. Boven

University of Groningen

26

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BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants-design and status.

2021 Netherlands Heart Journal
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Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy (Scientific Reports, (2019), 9, 1, (4093), 10.1038/s41598-019-39911-x)

2020 Scientific Reports
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Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.

2020 Scientific Reports
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No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

2018 PLOS ONE
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Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy

2018 Genetics in Medicine
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A stepwise approach including whole exome sequencing targeting a gene panel for paediatric dilated cardiomyopathy, potentially yields a diagnosis in 50% of patients

2017 Circulation
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A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.

2017 Netherlands Heart Journal
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Abstract 16049: Diagnostic Yield of Three Years Next Generation Sequencing in Clinical Genetic Diagnostics of Cardiomyopathies

2016 Circulation
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Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics

2013 Human Mutation
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Abstract 1924: Identification of Novel Mutations in Dilated Cardiomyopathy Using the Haplotype Sharing Test

2009 Circulation
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