Gert Matthijs

Gert Matthijs 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 Gert Matthijs sits on this spectrum.

Gert Matthijs 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 Gert Matthijs sits on this spectrum.

Research.com Recognitions

• 2023 - Research.com Genetics in Belgium Leader Award

Overview

Best Publications

• SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

  Véronique Pingault;Nadège Bondurand;Kirsten Kuhlbrodt;Derk E. Goerich

  947
  Citations

• Erythromycin is a motilin receptor agonist

  Theo Peeters;Gert Matthijs;Inge Depoortere;Thierry Cachet

  536
  Citations

• Guidelines for diagnostic next-generation sequencing.

  Gert Matthijs;Erika Souche;Mariëlle Alders;Anniek Corveleyn

  534
  Citations

• Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

  Alexandre Irrthum;Koenraad Devriendt;David Chitayat;Gert Matthijs

  480
  Citations

• Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

  Sarah L. Nolin;W. Ted Brown;Anne Glicksman;George E. Houck

  458
  Citations

• Factor VIII gene inversions in severe hemophilia A: results of an international consortium study

  S. E. Antonarakis;J. P. Rossiter;M. Young;J. Horst

  455
  Citations

• International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

  Kym M. Boycott;Ana Rath;Jessica X. Chong;Taila Hartley

  441
  Citations

• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

  Uwe Kornak;Ellen Reynders;Aikaterini Dimopoulou;Jeroen Van Reeuwijk

  420
  Citations

• Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

  Gert Matthijs;E Schollen;Els Pardon;M Veiga-Da-Cunha

  403
  Citations

• Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions

  M Simoni;E Bakker;M C Eurlings;Gert Matthijs

  376
  Citations

• Congenital Disorders of Glycosylation: A Rapidly Expanding Disease Family

  Jaak Jaeken;Gert Matthijs

  315
  Citations

• Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure.

  Koenraad Devriendt;Christine Vanhole;Gert Matthijs;Francis de Zegher

  276
  Citations

• Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

  Laura C. Tegtmeyer;Stephan Rust;Monique van Scherpenzeel;Bobby G. Ng

  273
  Citations

• Carbohydrate deficient glycoprotein (CDG) syndrome type I.

  Jacques Jaeken;Gert Matthijs;R Barone;Hubert Carchon

  266
  Citations

• Congenital disorders of glycosylation: a review.

  Stephanie Grunewald;Gert Matthijs;Jacques Jaeken

  262
  Citations

• Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.

  Kathleen Freson;Koenraad Devriendt;Gert Matthijs;Achilles Van Hoof

  256
  Citations

• The mutational spectrum of human malignant autosomal recessive osteopetrosis

  Cristina Sobacchi;Annalisa Frattini;Paul J Orchard;Oscar Porras

  254
  Citations

• A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

  P de Lonlay;N Seta;S Barrot;B Chabrol

  246
  Citations

• Congenital disorders of glycosylation (CDG): Quo vadis?

  Romain Péanne;Pascale de Lonlay;François Foulquier;Uwe Kornak

  244
  Citations

• Lower than Expected Desmosomal Gene Mutation Prevalence in Endurance Athletes with Complex Ventricular Arrhythmias of Right Ventricular Origin

  A. La Gerche;C. Robberecht;C. Kuiperi;D. Nuyens

  241
  Citations