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Gert Matthijs

Gert Matthijs

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Genetics
Belgium
2023

D-Index & Metrics

Genetics

D-Index
91
Citations
26211
World Ranking
1050
National Ranking
14

Medicine

D-Index
90
Citations
26362
World Ranking
12320
National Ranking
144

Research.com Recognitions

  • 2023 - Research.com Genetics in Belgium Leader Award

Overview

Gert Matthijs is affiliated with KU Leuven in Belgium and has contributed extensively to the fields of biochemistry, genetics, and molecular biology, as well as medicine. Their research output includes a focus on molecular biology, genetics, pediatrics, perinatology and child health, cell biology, and pulmonary and respiratory medicine.

The main topics covered in Matthijs's work include:

  • Glycosylation and Glycoproteins Research
  • Prenatal Screening and Diagnostics
  • Cystic Fibrosis Research Advances
  • Hemoglobinopathies and Related Disorders
  • Iron Metabolism and Disorders
  • Cellular Transport and Secretion
  • Genomics and Rare Diseases

They have published extensively in various scientific venues, with frequent publications in:

  • European Journal of Human Genetics
  • Cell
  • Molecular Genetics and Metabolism Reports
  • Journal of Inherited Metabolic Disease
  • Journal of Clinical Laboratory Analysis

Recent papers by Matthijs illustrate the scope and depth of their research:

  • Recommendations for whole genome sequencing in diagnostics for rare diseases, 2022, European Journal of Human Genetics
  • Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature, 2020, Human Reproduction Update
  • SLC35A2-CDG: Novel variant and review, 2021, Molecular Genetics and Metabolism Reports
  • N-glycosylation as a eukaryotic protective mechanism against protein aggregation, 2024, Science Advances
  • The evolving genetic landscape of congenital disorders of glycosylation, 2021, Biochimica et Biophysica Acta (BBA) - General Subjects

Matthijs has collaborated frequently with several researchers, including:

  • Jaak Jaeken
  • Matthew P. Wilson
  • François Foulquier
  • Erika Souche
  • Eva Van Steijvoort

Best Publications

  • SOX10 mutations in patients with Waardenburg-Hirschsprung disease.

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

  • Erythromycin is a motilin receptor agonist

    Theo Peeters;Gert Matthijs;Inge Depoortere;Thierry Cachet

  • Guidelines for diagnostic next-generation sequencing.

    Gert Matthijs;Erika Souche;Mariëlle Alders;Anniek Corveleyn

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

    Alexandre Irrthum;Koenraad Devriendt;David Chitayat;Gert Matthijs

  • 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

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

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

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

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

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

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

  • 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

  • Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions

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

  • Congenital Disorders of Glycosylation: A Rapidly Expanding Disease Family

    Jaak Jaeken;Gert Matthijs

  • 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

  • Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

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

  • Carbohydrate deficient glycoprotein (CDG) syndrome type I.

    Jacques Jaeken;Gert Matthijs;R Barone;Hubert Carchon

  • Congenital disorders of glycosylation: a review.

    Stephanie Grunewald;Gert Matthijs;Jacques Jaeken

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

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

  • The mutational spectrum of human malignant autosomal recessive osteopetrosis

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

  • 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

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

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

  • 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

Frequent Co-Authors

Jaak Jaeken
Jaak Jaeken KU Leuven
Eric Legius
Eric Legius KU Leuven
Ron A. Wevers
Ron A. Wevers Radboud University
Eva Morava
Eva Morava Mayo Clinic
Emile Van Schaftingen
Emile Van Schaftingen Université Catholique de Louvain
Robert Fagard
Robert Fagard KU Leuven

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