Pope, Francis Michael

Top Publications

Top Publications Authored or Co-Authored by "Pope, Francis Michael"

• International nosology of heritable disorders of connective tissue, Berlin, 1986

  American Journal of Medical Genetics, Volume 29, No. 3, Year 1988, Citations 706
• Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2

  American Journal of Human Genetics, Volume 46, No. 2, Year 1990, Citations 127
• Substitution of aspartate for glycine 1018 in the type III procollagen (COL3AI) gene causes type IV Ehlers-Danlos syndrome: The mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother

  American Journal of Human Genetics, Volume 51, No. 3, Year 1992, Citations 44
• Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV

  American Journal of Medical Genetics, Volume 46, No. 3, Year 1993, Citations 31
• 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