Brage S. Andresen

Brage S. Andresen publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Brage S. Andresen sits on this spectrum.

Brage S. Andresen D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Brage S. Andresen sits on this spectrum.

Overview

Best Publications

• ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

  Rikke K J Olsen;Simon E Olpin;Brage S Andresen;Zofia H Miedzybrodzka

  341
  Citations

• Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

  Brage Storstein Andresen;Brage Storstein Andresen;Simon Olpin;Ben J.H.M. Poorthuis;Hans R. Scholte

  336
  Citations

• Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

  Brage Storstein Andresen;Brage Storstein Andresen;Steve F. Dobrowolski;Linda O'Reilly;Joseph Muenzer

  323
  Citations

• Protein misfolding and degradation in genetic diseases

  Peter Bross;Thomas Juhl Corydon;Brage S. Andresen;Brage S. Andresen;Malene Munk Jørgensen

  303
  Citations

• Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

  Rikke K.J. Olsen;Brage S. Andresen;Brage S. Andresen;Ernst Christensen;Peter Bross

  246
  Citations

• Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.

  Niels Gregersen;Brage S. Andresen;Brage S. Andresen;Morten J. Corydon;Thomas J. Corydon

  220
  Citations

• CUGBP1 and MBNL1 preferentially bind to 3′ UTRs and facilitate mRNA decay

  Akio Masuda;Henriette Skovgaard Andersen;Thomas Koed Doktor;Takaaki Okamoto

  207
  Citations

• Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer

  Karsten Bork Nielsen;Suzette Sørensen;Luca Cartegni;Thomas Juhl Corydon

  204
  Citations

• Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans

  Caroline Heintz;Thomas Koed Doktor;Anne Lanjuin;Caroline C. Escoubas

  184
  Citations

• Identification of Four New Mutations in the Short-Chain Acyl-CoA Dehydrogenase (SCAD) Gene in Two Patients: One of the Variant Alleles, 511C→T, is Present at an Unexpectedly High Frequency in the General Population, as Was the Case for 625G→A, Together Conferring Susceptibility to Ethylmalonic Aciduria

  Niels Gregersen;Vibeke S. Winter;Morten J. Corydon;Thomas J. Corydon

  171
  Citations

• Mitochondrial fatty acid oxidation defects—remaining challenges

  Niels Gregersen;Brage S. Andresen;Christina B. Pedersen;Rikke K. J. Olsen

  162
  Citations

• Cloning and Characterization of Human Very-Long-Chain Acyl-CoA Dehydrogenase cDNA, Chromosomal Assignment of the Gene and Identification in Four Patients of Nine Different Mutations Within the VLCAD Gene

  Brage Storstein Andresen;Peter Bross;Christine Vianey-Saban;Priscille Divry

  156
  Citations

• The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

  Brage Storstein Andresen;Peter Bross;Szabolcs Udvari;Szabolcs Udvari;Jean Kirk

  148
  Citations

• The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

  Christina B. Pedersen;Steen Kølvraa;Agnete Kølvraa;Vibeke Stenbroen

  136
  Citations

• Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.

  Niels Gregersen;Peter Bross;Brage S. Andresen;Brage S. Andresen

  132
  Citations

• Sequence analysis of the Epstein-Barr Virus (EBV) latent membrane protein -1 gene and promoter region: identification of four variants among wild-type EBV isolates

  Kristian Sandvej;Jan W. Gratama;Mette Munch;Xiao-Ge Zhou

  127
  Citations

• Effects of Two Mutations Detected in Medium Chain Acyl-CoA Dehydrogenase (MCAD)-deficient Patients on Folding, Oligomer Assembly, and Stability of MCAD Enzyme

  Peter Bross;Charlotte Jespersen;Thomas G. Jensen;Brage S. Andresen

  121
  Citations

• Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.

  Niels Gregersen;Alexandra I.F. Blakemore;Vibeke Winter;Brage Andresen

  120
  Citations

• VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.

  A Boneh;Brage Storstein Andresen;Niels Gregersen;M Ibrahim

  116
  Citations

• Ethylmalonic Aciduria Is Associated with an Amino Acid Variant of Short Chain Acyl-Coenzyme A Dehydrogenase

  M J Corydon;N Gregersen;W Lehnert;A Ribes

  115
  Citations