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  • Delfien J Bogaert, Melissa Dullaers, Bart N Lambrecht, Karim Vermaelen, Elfride De Baere, Filomeen Haerynck
  • Medicine, Biology
  • Journal of Medical Genetics
  • 2016 (First Publication: 1 June 2016)
  • Common variable immunodeficiency (CVID) is a primary antibody deficiency characterised by hypogammaglobulinaemia, impaired production of specific antibodies after immunisation and increasedExpand
  • Elfride De Baere, Michael James Dixon, +24 authors Ludwine M Messiaen
  • Medicine, Biology
  • Human molecular genetics
  • 2001 (First Publication: 1 July 2001)
  • Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II, a rare genetic disorder. InExpand
  • Hanne Van Gorp, Pedro H V Saavedra, +16 authors Mohamed Lamkanfi
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences
  • 2016 (First Publication: 22 November 2016)
  • Significance Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by more than 310 mutations in the gene MEFV, which encodes Pyrin. Pyrin recently was shown to triggerExpand
  • Frauke Coppieters, Bart P. Leroy, +7 authors Elfride De Baere
  • Biology, Medicine
  • American journal of human genetics
  • 2007 (First Publication: 1 July 2007)
  • "Autosomal dominant retinitis pigmentosa" (adRP) refers to a genetically heterogeneous group of retinal dystrophies, in which 54% of all cases can be attributed to 17 disease loci. Here, we describeExpand