Matthijs, Gert L.

Top Publications

Top Publications Authored or Co-Authored by "Matthijs, Gert L."

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

  Nature Genetics, Volume 40, No. 1, Year 2008, Citations 340
• Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients

  Human Mutation, Volume 29, No. 10, Year 2008, Citations 100
• A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): A case report

  Orphanet Journal of Rare Diseases, Volume 5, No. 1, Article 7, Year 2010, Citations 35
• From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR Congo

  BMC Public Health, Volume 14, No. 1, Article 759, Year 2014, Citations 27
• Correlation between the lactate dehydrogenase levels with laboratory variables in the clinical severity of sickle cell anemia in Congolese patients

  PLoS ONE, Volume 10, No. 5, Article e0123568, Year 2015, Citations 24