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 and Molecular Biology D-index 58 Citations 11,365 107 World Ranking 2591 National Ranking 70

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Enzyme
  • Mutation

Lambert P. van den Heuvel spends much of his time researching Genetics, Mitochondrion, Gene, Mutation and Oxidative phosphorylation. His study in NDUFS4, NDUFS2, Compound heterozygosity, Nuclear gene and Electron Transport Complex I are all subfields of Genetics. Lambert P. van den Heuvel has included themes like Human genetics and Mitochondrial disease in his Mitochondrion study.

In his work, Allele and Genotype is strongly intertwined with Exon, which is a subfield of Mutation. His research in Oxidative phosphorylation intersects with topics in Oxidoreductase, Biogenesis and Mitochondrial DNA. In his study, Heparan sulfate is strongly linked to Neurofibrillary tangle, which falls under the umbrella field of Cell biology.

His most cited work include:

  • A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? (1368 citations)
  • The genetics and pathology of oxidative phosphorylation. (560 citations)
  • Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts (291 citations)

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

The scientist’s investigation covers issues in Genetics, Gene, Biochemistry, Molecular biology and Mitochondrion. Lambert P. van den Heuvel frequently studies issues relating to Oxidative phosphorylation and Genetics. His Gene research incorporates themes from Endocrinology and Internal medicine.

His Biochemistry course of study focuses on Cell biology and Glomerular basement membrane. In Molecular biology, he works on issues like Protein subunit, which are connected to Cytochrome. His Mitochondrion research includes elements of Enzyme complex and Mitochondrial DNA.

He most often published in these fields:

  • Genetics (31.87%)
  • Gene (25.63%)
  • Biochemistry (25.00%)

What were the highlights of his more recent work (between 2011-2021)?

  • Genetics (31.87%)
  • Gene (25.63%)
  • Internal medicine (22.50%)

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

Lambert P. van den Heuvel mainly focuses on Genetics, Gene, Internal medicine, Molecular biology and Mutation. His studies in Gene integrate themes in fields like Fibrinogen, Respiratory chain and Clinical significance. His research integrates issues of Endocrinology, Gastroenterology, Cystamine, Pharmacology and In vivo in his study of Internal medicine.

The study incorporates disciplines such as Cysteamine and Drug in addition to Endocrinology. As a member of one scientific family, Lambert P. van den Heuvel mostly works in the field of Molecular biology, focusing on Protein subunit and, on occasion, Cytochrome bc1, Cytochrome and Cytochrome b. Lambert P. van den Heuvel combines subjects such as Inborn error of metabolism, Mitochondrion, Bioinformatics and Candidate gene with his study of Mutation.

Between 2011 and 2021, his most popular works were:

  • Gene identification in the Congenital Disorders of Glycosylation type I by whole-exome sequencing (125 citations)
  • Whole exome sequencing of suspected mitochondrial patients in clinical practice (124 citations)
  • Cysteamine: an old drug with new potential (97 citations)

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

  • Gene
  • Enzyme
  • Mutation

His primary scientific interests are in Mutation, Genetics, Mitochondrion, Molecular biology and Exome sequencing. His work on Genetics deals in particular with Human genetics, Membrane protein, Protein superfamily and Cytochrome c oxidase. His work carried out in the field of Molecular biology brings together such families of science as Hypertrophic cardiomyopathy, Protein subunit and Complex IV deficiency.

His Protein subunit research is multidisciplinary, incorporating elements of Missense mutation, Biogenesis, Cytochrome b, Cytochrome bc1 and Cytochrome. His Exome sequencing study improves the overall literature in Gene. His work on Disease gene identification, Compound heterozygosity, Pontocerebellar hypoplasia and Candidate gene as part of general Gene research is often related to DPAGT1, thus linking different fields of science.

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

A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

Nathalie M.J. van der Put;Fons Gabreëls;Erik M.B. Stevens;Jan A.M. Smeitink.
American Journal of Human Genetics (1998)

1937 Citations

The genetics and pathology of oxidative phosphorylation.

Jan Smeitink;Lambert van den Heuvel;Salvatore DiMauro.
Nature Reviews Genetics (2001)

741 Citations

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

Antoon J.M. Janssen;Frans J.M. Trijbels;Rob C.A. Sengers;Jan A.M. Smeitink.
Clinical Chemistry (2007)

370 Citations

The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

Jan Loeffen;Jan Smeitink;Ralf Triepels;Roel Smeets.
American Journal of Human Genetics (1998)

324 Citations

A monoclonal antibody against GBM heparan sulfate induces an acute selective proteinuria in rats

Jacob van den Born;Lambert P.W.J. van den Heuvel;Marinka A.H. Bakker;Jacques H. Veerkamp.
Kidney International (1992)

308 Citations

Mitochondrial complex I: structure, function and pathology.

Rolf J. R. J. Janssen;Leo G. Nijtmans;Lambert P. van den Heuvel;Jan A. M. Smeitink.
Journal of Inherited Metabolic Disease (2006)

295 Citations

Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit

Lambert van den Heuvel;Wim Ruitenbeek;Roel Smeets;Zully Gelman-Kohan.
American Journal of Human Genetics (1998)

281 Citations

Heparan sulphate proteoglycans in Alzheimer's disease and amyloid-related disorders

Jack van Horssen;Pieter Wesseling;Lambert P W J van den Heuvel;Robert M W de Waal.
Lancet Neurology (2003)

244 Citations

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency

Cristina Ugalde;Rolf J.R.J. Janssen;Lambert P. van den Heuvel;Jan A.M. Smeitink.
Human Molecular Genetics (2004)

229 Citations

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

Paulien Smits;Jan A.M. Smeitink;Lambert van den Heuvel.
BioMed Research International (2010)

225 Citations

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