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Gert Matthijs

VIB-KU Leuven Center for Cancer Biology(BE)Center for Human Genetics(US)

Publications by Year

Research Areas

Glycosylation and Glycoproteins Research, Carbohydrate Chemistry and Synthesis, Galectins and Cancer Biology, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders

Most-Cited Works

→ SOX10 mutations in patients with Waardenburg-Hirschsprung disease(1998)818 cited
→ Guidelines for diagnostic next-generation sequencing(2015)513 cited
→ International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases(2017)444 cited
→ Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia(2003)426 cited
→ Erratum: Guidelines for diagnostic next-generation sequencing(2016)423 cited
→ Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles(2003)418 cited
→

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

(2007)

374 cited

→ Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)(1997)361 cited

→ Erythromycin is a motilin receptor agonist(1989)359 cited

→ Multiple Phenotypes in Phosphoglucomutase 1 Deficiency(2014)284 cited