D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics D-index 64 Citations 13,815 223 World Ranking 2005 National Ranking 71

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Internal medicine

Marcel M.A.M. Mannens mainly focuses on Genetics, Internal medicine, Cardiology, Chromosome and Endocrinology. His study in Mutation, Breakpoint, Gene, Genomic imprinting and Loss of heterozygosity is carried out as part of his studies in Genetics. His primary area of study in Internal medicine is in the field of Sudden death.

Many of his research projects under Cardiology are closely connected to Catecholaminergic polymorphic ventricular tachycardia with Catecholaminergic polymorphic ventricular tachycardia, tying the diverse disciplines of science together. His Chromosome research focuses on Gene duplication and how it connects with Sequence analysis, Exon, RNA splicing and Complementary DNA. His Endocrinology study incorporates themes from Penetrance and QT interval.

His most cited work include:

  • Cardiac conduction defects associate with mutations in SCN5A. (543 citations)
  • Mutation in the KCNQ1 Gene Leading to the Short QT-Interval Syndrome (511 citations)
  • The human chitotriosidase gene: nature of inherited enzyme deficiency (345 citations)

What are the main themes of his work throughout his whole career to date?

Genetics, Gene, Internal medicine, Chromosome and DNA methylation are his primary areas of study. He focuses mostly in the field of Genetics, narrowing it down to matters related to Molecular biology and, in some cases, Exon. The various areas that Marcel M.A.M. Mannens examines in his Internal medicine study include Endocrinology and Cardiology.

When carried out as part of a general Cardiology research project, his work on Tachycardia is frequently linked to work in Catecholaminergic polymorphic ventricular tachycardia and Ryanodine receptor 2, therefore connecting diverse disciplines of study. Marcel M.A.M. Mannens has included themes like Genetic marker, Locus, Gene duplication and Wilms' tumor in his Chromosome study. His DNA methylation research integrates issues from Methylation, Epigenetics, Immunology and Bioinformatics.

He most often published in these fields:

  • Genetics (52.00%)
  • Gene (21.00%)
  • Internal medicine (20.50%)

What were the highlights of his more recent work (between 2017-2021)?

  • DNA methylation (15.50%)
  • Epigenetics (6.00%)
  • Genetics (52.00%)

In recent papers he was focusing on the following fields of study:

His primary scientific interests are in DNA methylation, Epigenetics, Genetics, Bioinformatics and Gene. His DNA methylation study combines topics from a wide range of disciplines, such as Internal medicine, Cohort, Methylation and Mendelian disorders. His Internal medicine research integrates issues from Sanger sequencing, Endocrinology and Oncology.

Marcel M.A.M. Mannens merges Genetics with TXNIP in his study. The concepts of his Bioinformatics study are interwoven with issues in DNA sequencing, Post hoc, dNaM and Likely pathogenic. His research investigates the connection with Gene and areas like Immunology which intersect with concerns in Pulmonary disease, Expression data and Single-nucleotide polymorphism.

Between 2017 and 2021, his most popular works were:

  • Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (27 citations)
  • An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality (21 citations)
  • Epigenome-wide Association Study in Whole Blood on Type 2 Diabetes Among sub-Saharan African Individuals: Findings From the RODAM Study (18 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Internal medicine

Marcel M.A.M. Mannens focuses on DNA methylation, Epigenetics, Cohort, Differentially methylated regions and Genetics. He has included themes like genomic DNA, Bioinformatics, Internal medicine, Computational biology and Mendelian inheritance in his DNA methylation study. His research investigates the connection between Bioinformatics and topics such as Endocrinology that intersect with problems in Genome-wide association study.

His Internal medicine study incorporates themes from Sanger sequencing, Locus, SNP and Oncology. His work deals with themes such as Chromosome 21, Methylation, Down syndrome and Epigenetic Profile, which intersect with Differentially methylated regions. The Genetics study combines topics in areas such as Body mass index and Type 2 diabetes.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

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.
Circulation (2004)

759 Citations

Cardiac conduction defects associate with mutations in SCN5A.

J. J. Schott;C. Alshinawi;F. Kyndt;V. Probst.
Nature Genetics (1999)

740 Citations

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

Alex V. Postma;Isabelle Denjoy;Theo M. Hoorntje;Jean-Marc Lupoglazoff.
Circulation Research (2002)

474 Citations

The human chitotriosidase gene - Nature of inherited enzyme deficiency

R.G. Boot;G.H. Renkema;M. Verhoek;A. Strijland.
Journal of Biological Chemistry (1998)

467 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.
Journal of the American College of Cardiology (2009)

397 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.
Circulation (2006)

389 Citations

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Marielle Alders;Benjamin M. Hogan;Evisa Gjini;Faranak Salehi.
Nature Genetics (2009)

318 Citations

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

A. V. Postma;I. Denjoy;J. Kamblock;M. Alders.
Journal of Medical Genetics (2005)

316 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.
European Journal of Epidemiology (2005)

286 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.
Circulation (2007)

259 Citations

If you think any of the details on this page are incorrect, let us know.

Contact us

Best Scientists Citing Marcel M.A.M. Mannens

Arthur A.M. Wilde

Arthur A.M. Wilde

University of Amsterdam

Publications: 187

Silvia G. Priori

Silvia G. Priori

University of Pavia

Publications: 96

Michael J. Ackerman

Michael J. Ackerman

Mayo Clinic

Publications: 87

Barbara J.M. Mulder

Barbara J.M. Mulder

University of Amsterdam

Publications: 78

Johannes M. F. G. Aerts

Johannes M. F. G. Aerts

Leiden University

Publications: 76

Charles Antzelevitch

Charles Antzelevitch

Lankenau Institute for Medical Research

Publications: 70

Minoru Horie

Minoru Horie

Shiga University of Medical Science

Publications: 62

Christopher Semsarian

Christopher Semsarian

University of Sydney

Publications: 60

Thomas Eggermann

Thomas Eggermann

RWTH Aachen University

Publications: 58

Connie R. Bezzina

Connie R. Bezzina

University of Amsterdam

Publications: 55

Charles Agyemang

Charles Agyemang

University of Amsterdam

Publications: 49

Matthew A. Deardorff

Matthew A. Deardorff

Children's Hospital of Philadelphia

Publications: 46

Josep Brugada

Josep Brugada

University of Barcelona

Publications: 44

Carlo Napolitano

Carlo Napolitano

University of Pavia

Publications: 44

Deborah J.G. Mackay

Deborah J.G. Mackay

University of Southampton

Publications: 43

Rosanna Weksberg

Rosanna Weksberg

University of Toronto

Publications: 41

Trending Scientists

James J. Coleman

James J. Coleman

The University of Texas at Dallas

Guifu Zou

Guifu Zou

Soochow University

Yujie Wei

Yujie Wei

Chinese Academy of Sciences

Jaime C. Grunlan

Jaime C. Grunlan

Texas A&M University

Ross Jakes

Ross Jakes

MRC Laboratory of Molecular Biology

Abdul Waheed

Abdul Waheed

Bahauddin Zakariya University

Antoine Magnan

Antoine Magnan

University of Nantes

James N. Connelly

James N. Connelly

University of Copenhagen

Paul Geissler

Paul Geissler

United States Geological Survey

Leah R. Williams

Leah R. Williams

Aerodyne Research

Petra E. Vértes

Petra E. Vértes

University of Cambridge

Stephen M. Strakowski

Stephen M. Strakowski

The University of Texas at Austin

Michael E. Jones

Michael E. Jones

Macquarie University

Peter Robinson

Peter Robinson

Aoyama Gakuin University

Arjun Dey

Arjun Dey

Harvard University

Arthur M. Wolfe

Arthur M. Wolfe

University of California, San Diego

Something went wrong. Please try again later.