A. van den Wijngaard

发表

Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias

S. Heymans, H. Brunner, V. V. van Empel, 2018, European heart journal.

A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.

Marielle Alders, Abdelaziz Sefiani, A. Wilde, 2014, Journal of the American College of Cardiology.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Edwin Cuppen, Marcel Nelen, Wilfred F J van IJcken, 2015, European Journal of Human Genetics.

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

V. Regitz-Zagrosek, A. Wilde, F. T. ten Cate, 2003, European heart journal.

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.

Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification.

S. Heymans, H. Crijns, H. Brunner-La Rocca, 2015, Journal of the American College of Cardiology.

Antiestrogens specifically up-regulate bone morphogenetic protein-4 promoter activity in human osteoblastic cells.

S. Mosselman, R. Dijkema, E. J. V. van Zoelen, 2000, Molecular endocrinology.

No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

H. Smeets, E. Wolters, A. van den Wijngaard, 2016, PloS one.

Human embryonic stem cell-derived cardiomyocytes as an in vitro model to study cardiac insulin resistance.

R. Kamps, D. Neumann, D. Chanda, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Mortality Risk Associated With Truncating Founder Mutations in Titin.

A. Wilde, M. P. van den Berg, E. Sijbrands, 2019, Circulation. Genomic and precision medicine.

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Pathogenic Desmosome Mutations in Index-Patients Predict Outcome of Family Screening Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Genotype-Phenotype Follow-Up Study

L. Jordaens, R. Hauer, D. Atsma, 2011, Circulation.

Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy

S. Heymans, H. Brunner, J. Ware, 2021, Genetics in Medicine.

Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy

S. Heymans, H. Brunner, H. Brunner-La Rocca, 2018, Circulation. Heart failure.

Value of Speckle Tracking-Based Deformation Analysis in Screening Relatives of Patients Asymptomatic Dilated Cardiomyopathy.

S. Heymans, J. Lumens, H. Brunner, 2020, JACC. Cardiovascular imaging.

Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy

S. Heymans, H. Brunner, H. Brunner-La Rocca, 2018, Circulation. Heart failure.

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.

W. D. den Dunnen, J. P. van Tintelen, A. V. van Essen, 2007, European journal of medical genetics.

Electromechanical window negativity in genotyped long-QT syndrome patients: relation to arrhythmia risk.

Michael J Ackerman, Thor Edvardsen, Paul G A Volders, 2015, European heart journal.

Implications of Genetic Testing in Dilated Cardiomyopathy

S. Heymans, H. Brunner, J. Verdonschot, 2020, Circulation. Genomic and precision medicine.

Y. Pinto, B. Alzand, S. Schalla, 2011, Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation.

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.

Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

H. Brunner, A. Paulussen, C. Gilissen, 2021, Genetics in Medicine.

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

L. Vissers, R. Pfundt, N. de Leeuw, 2022, European Journal of Human Genetics.

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

Kiely N. James, S. Heymans, H. Brunner, 2019, Molecular genetics & genomic medicine.

Metabolic Profiling Associates with Disease Severity in Non-Ischemic Dilated Cardiomyopathy.

S. Heymans, H. Brunner, J. Bierau, 2020, Journal of cardiac failure.

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

M. P. van den Berg, P. Volders, R. L. Lekanne Deprez, 2011, Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation.

Heritability in a SCN5A-mutation founder population with increased female susceptibility to non-nocturnal ventricular tachyarrhythmia and sudden cardiac death.

A. Isaacs, P. Volders, J. Hoorntje, 2017, Heart rhythm.

DTYMK is essential for genome integrity and neuronal survival

H. Brunner, R. Rodenburg, C. Ferreira, 2021, Acta Neuropathologica.

Activation of the β globin locus by transcription factors and chromatin modifiers

F. Grosveld, T. Jenuwein, P. Fraser, 2000, The EMBO journal.

Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy

R. Hofstra, R. Oldenburg, R. L. Lekanne Deprez, 2018, European Journal of Human Genetics.

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

H. Brunner, R. Brandão, A. Paulussen, 2021, medRxiv.

Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.

H. Smeets, H. Brunner, A. Paulussen, 2016, European heart journal.

Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies.

W. D. De Vos, E. Manders, J. Broers, 2011, Human molecular genetics.

Patients with an unclassified genetic variant in the BRCA1 or BRCA2 genes show different clinical features from those with a mutation.

M. Blok, E. Gomez-Garcia, A. van den Wijngaard, 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress

S. Zinn-Justin, J. Broers, P. Steijlen, 2009, Journal of cellular and molecular medicine.

A. Wilde, M. P. van den Berg, G. T. te Meerman, 2017, Circulation. Cardiovascular genetics.

Cytoplasmic localization of PML particles in laminopathies

W. D. De Vos, J. Broers, C. Marcelis, 2012, Histochemistry and Cell Biology.

Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.

H. Smeets, R. Hennekam, S. Zinn-Justin, 2006, Human molecular genetics.

Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo: Segregation and Haplotype Analysis of a Multinational Cohort.

H. Calkins, R. Zwart, E. Schulze-Bahr, 2019, Circulation. Genomic and precision medicine.

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

C. V. van Ravenswaaij-Arts, H. K. V. van Amstel, A. van den Wijngaard, 2019, Orphanet Journal of Rare Diseases.

Evidence of digenic inheritance in Alport syndrome

K. Dahan, C. Antignac, B. Knebelmann, 2015, Journal of Medical Genetics.

Liquid biopsy: state of reproductive medicine and beyond

H. Brunner, A. Paulussen, E. Coonen, 2021, Human reproduction.

A mutation update for the FLNC gene in myopathies and cardiomyopathies

S. Heymans, H. Brunner, F. Asselbergs, 2020, Human mutation.

The Effect of ITPA Polymorphisms on the Enzyme Kinetic Properties of Human Erythrocyte Inosine Triphosphatase Toward its Substrates ITP and 6-Thio-ITP

A. Paulussen, J. Bierau, M. Lindhout, 2011, Nucleosides, nucleotides & nucleic acids.

Fine mapping of the human bone morphogenetic protein-4 gene (BMP4) to chromosome 14q22-q23 by in situ hybridization.

D. Weghuis, W. Olijve, A. van den Wijngaard, 1995, Genomics.

Genomic organization of the human bone morphogenetic protein-4 gene: molecular basis for multiple transcripts.

E. J. V. van Zoelen, W. Olijve, A. van den Wijngaard, 1996, Biochemical and biophysical research communications.

Functional Characterization of Two Promoters in the Human Bone Morphogenetic Protein‐4 Gene

W. Olijve, A. van den Wijngaard, P. Joosten, 1999, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Methods in molecular cardiology: DHPLC mutation detection analysis.

P. Doevendans, R. Jongbloed, A. van den Wijngaard, 2005, Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation.

Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy.

R. Hauer, D. Atsma, G. Bonsel, 2011, European heart journal.

Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences

S. Heymans, H. Brunner, F. Domínguez, 2020, European heart journal.

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

R. N. Planken, D. Fatkin, M. P. van den Berg, 2021, medRxiv.

Soft substrates normalize nuclear morphology and prevent nuclear rupture in fibroblasts from a laminopathy patient with compound heterozygous LMNA mutations

F. Baaijens, C. Tamiello, J. Broers, 2013, Nucleus.

Left Atrial Function in Patients with Titin Cardiomyopathy.

J. Lumens, K. Vernooy, H. Brunner, 2023, Journal of cardiac failure.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

J. Veltman, E. Cuppen, R. Hennekam, 2015, European Journal of Human Genetics.