L. Boven

发表

The effect of tropomyosin variants on cardiomyocyte function and structure that underlie different clinical cardiomyopathy phenotypes.

B. Brundel, M. P. van den Berg, A. Vink, 2020, International journal of cardiology.

Targeted Next‐Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

R. Sinke, R. Sijmons, R. Almomani, 2013, Human mutation.

Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients.

R. Sinke, R. Sijmons, B. Sikkema-Raddatz, 2021, International journal of cardiology.

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

R. Hauer, H. Calkins, A. Wilde, 2018, PloS one.

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.

I. V. Van Gelder, M. P. van den Berg, R. Hofstra, 2009, Heart rhythm.

The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy

Y. Pinto, M. P. van den Berg, F. Asselbergs, 2017, European journal of heart failure.

evere cardiac phenotype with right ventricular predominance n a large cohort of patients with a single missense mutation in he DES gene

R. Hofstra, J. Saffitz, P. Tintelen, 2022 .

Array comparative genomic hybridization reveals a very high frequency of deletions of the long arm of chromosome 6 in testicular lymphoma

E. van den Berg, K. Kok, A. van den Berg, 2006, Genes, chromosomes & cancer.

Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

R. Hauer, I. V. Van Gelder, A. Wilde, 2006, Circulation.

Mutación p.Arg14del en fosfolambán en una familia española con miocardiopatía arritmogénica: evidencia de una mutación europea fundadora

J. P. Tintelen, L. Boven, A. Wijngaard, 2015 .

Phospholamban p.arg14del mutation in a Spanish family with arrhythmogenic cardiomyopathy: evidence for a European founder mutation.

J. P. van Tintelen, L. Boven, A. van den Wijngaard, 2015, Revista espanola de cardiologia.

Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients.

J. Jongbloed, L. Boven, M. Jonkman, 2014, The Journal of investigative dermatology.

SEPT-GD: a decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.

R. Sijmons, B. Sikkema-Raddatz, L. Boven, 2022, Gene.

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

R. Sinke, M. P. van den Berg, D. Barge-Schaapveld, 2018, Genetics in Medicine.

Novel Methods for Genetic Transformation of Natural Bacillus subtilis Isolates Used To Study the Regulation of the Mycosubtilin and Surfactin Synthetases

O. Kuipers, L. Hamoen, G. Venemâ, 2007, Applied and Environmental Microbiology.

A substantial proportion of microsatellite‐unstable colon tumors carry TP53 mutations while not showing chromosomal instability

H. Hollema, R. Hofstra, K. Kok, 2005, Genes, chromosomes & cancer.

Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

Y. Pinto, M. P. van den Berg, R. L. Lekanne Deprez, 2019, Scientific Reports.

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Carel Meijers, Dick Tibboel, Jan Osinga, 2005, American journal of human genetics.

Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

R. Sinke, M. P. van den Berg, R. Rodenburg, 2019, Journal of Medical Genetics.

Practical Barriers and Facilitators Experienced by Patients, Pharmacists and Physicians to the Implementation of Pharmacogenomic Screening in Dutch Outpatient Hospital Care—An Explorative Pilot Study

C. Wijmenga, P. Lanting, L. Franke, 2020, medRxiv.

Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene.

Y. Pinto, J. Osinga, M. P. van den Berg, 2007, Journal of the American College of Cardiology.

Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants

R. D. de Boer, K. Wagner, N. Wagner, 2023, International journal of molecular sciences.

Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant.

R. Sinke, L. Meiners, J. Fock, 2022, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.

Michael A. Burke, N. Brown, P. Lockhart, 2020, American heart journal.

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

R. Sinke, R. Hofstra, J. Saffitz, 2016, Journal of the American College of Cardiology.

MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset

A. Wilde, R. L. Lekanne Deprez, S. Mercier, 2023, Netherlands Heart Journal.

Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D

M. P. van den Berg, P. Doevendans, E. Ippel, 2012, Netherlands Heart Journal.

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

D. Barge-Schaapveld, C. Ruivenkamp, R. L. Lekanne Deprez, 2017, Netherlands Heart Journal.

University of Groningen Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics

R. Sinke, R. Sijmons, R. Almomani, 2017 .