Mortier, Geert R.

Top Publications

Top Publications Authored or Co-Authored by "Mortier, Geert R."

• Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

  American Journal of Human Genetics, Volume 75, No. 1, Year 2004, Citations 333
• Mutations in the TGFβb binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

  American Journal of Human Genetics, Volume 89, No. 1, Year 2011, Citations 204
• Identification of CANT1 Mutations in Desbuquois Dysplasia

  American Journal of Human Genetics, Volume 85, No. 5, Year 2009, Citations 86
• A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

  American Journal of Medical Genetics, Part A, Volume 167, No. 3, Year 2015, Citations 70
• Genotype-phenotype analysis of the branchio-oculo-facial syndrome

  American Journal of Medical Genetics, Part A, Volume 155, No. 1, Year 2011, Citations 67