All Stories

  1. Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures

    Article • PLoS Genetics, June 2021, PLOS

    Professor Bert Callewaert

  2. Disproportion and dysmorphism in an adult Belgian population with Turner syndrome: risk factors for chronic diseases?

    Article • Acta Clinica Belgica, April 2019, Taylor & Francis

    Dr Julie De Backer, Professor Bert Callewaert, Charlotte Lievens

  3. Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients

    Article • Oxidative Medicine and Cellular Longevity, January 2019, Hindawi Publishing Corporation

    Professor Bert Callewaert, Peter Low

  4. Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families

    Article • Molecular Genetics & Genomic Medicine, November 2017, Wiley

    Professor Bert Callewaert, Maha Fannana

  5. Small patella syndrome: New clinical and molecular insights into a consistent phenotype

    Article • Clinical Genetics, November 2017, Wiley

    Professor Bert Callewaert

  6. Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability

    Article • American Journal of Medical Genetics Part A, September 2017, Wiley

    Marleen D'hondt, Professor Bert Callewaert, Ruben Van Paemel

  7. Severe congenital neutropenia with neurological impairment due to a homozygousVPS45p.E238K mutation: A case report suggesting a genotype-phenotype correlation

    Article • American Journal of Medical Genetics Part A, September 2015, Wiley

    Professor Bert Callewaert

  8. The Genetics of Soft Connective Tissue Disorders

    Article • Annual Review of Genomics and Human Genetics, August 2015, Annual Reviews

    Professor Bert Callewaert