Rohrbach, Marianne

Top Publications

Top Publications Authored or Co-Authored by "Rohrbach, Marianne"

• 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 a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

  Human Mutation, Volume 33, No. 2, Year 2012, Citations 194
• 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
• ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

  Molecular Genetics and Metabolism, Volume 109, No. 3, Year 2013, Citations 59
• A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: Expansion of the clinical and mutational spectrum and description of the natural history

  Genetics in Medicine, Volume 20, No. 1, Year 2018, Citations 30