Center for Medical Genetics, Ghent University Hospital

Center for Medical Genetics,
Ghent University Hospital,

Partner 9 is located in the Center for Medical Genetics which is affiliated with both the Ghent University Hospital and the Ghent University (Faculty of Medicine and Health Sciences). The research laboratories are located in a new Medical Research Building on the campus of the Ghent University Hospital. The Center for Medical Genetics has in total 8 group leaders and 50 research staff personnel and is one of the biggest and leading genetic centres in Belgium. The Connective Tissue Lab, which is part of the Research Labs, has an international reputation in research on connective tissue disorders and bone dysplasias.

Most important papers (2000-2007)

Mortier GR, Chapman K, Leroy JL, Briggs MD. Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes. Eur J Hum Genet 9, 606-612, 2001.

Chapman KL, Mortier GR, Chapman K, Loughlin JA, Grant ME, Briggs MD. Mutations in the vWFA domain of the matrilin-3 gene cause multiple epiphyseal dysplasia. Nat Genet 28, 393-396, 2001.

Mortier GR, PPG Kramer, A Giedion, FA Beemer. Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia. J Med Genet 40, 201-207, 2003.

Hellemans J, Coucke PJ, Giedion A, De Paepe A, Kramer PPG, Beemer FA, Mortier GR. Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. Am J Hum Genet 72, 1040-1046, 2003.

Hellemans J, Preobrazhenska L, Willaert A, Debeer Ph, Verdonk PCM, Menten B, Van Roy N, Vermeulen SJT, Costa T, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Speleman F, Verschueren K, Coucke PJ, Mortier GR. Loss of function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet 36, 1213-1218, 2004.

Hoornaert K, Dewinter C, Vereecke I, Beemer FA, Courtens W, Fryer A, Fryssira H, Lees M, Müllner-Eidenböck A, Rimoin DL, Siderius L, Superti-Furga A, Temple K, Willems PJ, Zankl A, Zweier C, De Paepe A, Coucke P, Mortier G. The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. J Med Genet 43, 406-413, 2006.

Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PCM, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR. Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum Mutat 27, 290, 2006.