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Marcel M. A. M. Mannens | doi.page

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Marcel M. A. M. Mannens

Amsterdam University Medical Centers(NL)University of Amsterdam(NL)

Publications by Year

Research Areas

Epigenetics and DNA Methylation, Genetic Syndromes and Imprinting, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders

Most-Cited Works

→ A Single Na + Channel Mutation Causing Both Long-QT and Brugada Syndromes(1999)638 cited
→ Cardiac conduction defects associate with mutations in SCN5A(1999)631 cited
→ Mutation in the KCNQ1 Gene Leading to the Short QT-Interval Syndrome(2004)626 cited
→ The Human Chitotriosidase Gene(1998)408 cited
→ Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia(2002)400 cited
→ Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy(2006)354 cited

→ The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome(2009)

333 cited

→ Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders(2020)319 cited

→ Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans(2009)318 cited

→ CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: Rationale, design, and first results(2005)263 cited