Marcel M.A.M. Mannens

Overview

Best Publications

• Mutation in the KCNQ1 Gene Leading to the Short QT-Interval Syndrome

  Chloé Bellocq;Antoni C.G. van Ginneken;Connie R. Bezzina;Mariel Alders

  794
  Citations

• Cardiac conduction defects associate with mutations in SCN5A.

  J. J. Schott;C. Alshinawi;F. Kyndt;V. Probst

  762
  Citations

• The human chitotriosidase gene - Nature of inherited enzyme deficiency

  R.G. Boot;G.H. Renkema;M. Verhoek;A. Strijland

  494
  Citations

• Absence of Calsequestrin 2 Causes Severe Forms of Catecholaminergic Polymorphic Ventricular Tachycardia

  Alex V. Postma;Isabelle Denjoy;Theo M. Hoorntje;Jean-Marc Lupoglazoff

  487
  Citations

• 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 A Comprehensive Open Reading Frame Mutational Analysis

  Argelia Medeiros-Domingo;Zahurul A. Bhuiyan;David J. Tester;Nynke Hofman

  439
  Citations

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

  J.Peter van Tintelen;Mark M. Entius;Zahurul A. Bhuiyan;Roselie Jongbloed

  417
  Citations

• Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

  Marielle Alders;Benjamin M. Hogan;Evisa Gjini;Faranak Salehi

  346
  Citations

• Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients

  A. V. Postma;I. Denjoy;J. Kamblock;M. Alders

  345
  Citations

• CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: Rationale, design, and first results

  E.T. Van der Velde;J.W.J. Vriend;M.M.A.M. Mannens;C.S.P.M. Uiterwaal

  300
  Citations

• Expanding Spectrum of Human RYR2-Related Disease. New Electrocardiographic, Structural, and Genetic Features

  Zahurul A. Bhuiyan;Maarten P. van den Berg;J. Peter van Tintelen;Margreet T.E. Bink-Boelkens

  280
  Citations

• Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome

  M B Rook;C Bezzina Alshinawi;W A Groenewegen;I C van Gelder

  270
  Citations

• Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

  Jet Bliek;Gaetano Verde;Jonathan Callaway;Jonathan Callaway;Saskia M Maas

  262
  Citations

• Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

  J Fantes;B Redeker;M Breen;S Boyle

  261
  Citations

• A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families.

  Jeroen P.P. Smits;Jeroen P.P. Smits;Tamara T. Koopmann;Ronald Wilders;Marieke W. Veldkamp

  246
  Citations

• Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.

  Jet Bliek;Paulien Terhal;Marie-José van den Bogaard;Saskia Maas

  246
  Citations

• The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels

  A. C. Vedder;G. E. Linthorst;M. J. van Breemen;J. E. M. Groener

  237
  Citations

• Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours

  M. Mannens;R. M. Slater;C. Heyting;J. Bliek

  233
  Citations

• Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

  Erfan Aref-Eshghi;Jennifer Kerkhof;Victor P. Pedro

  225
  Citations

• Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS

  Jet Bliek;Saskia M. Maas;Jan M. Ruijter;Raoul C.M. Hennekam

  220
  Citations

• A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization

  Connie R. Bezzina;Arie O. Verkerk;Andreas Busjahn;Andreas Jeron

  211
  Citations