David Sillence

Genetic heterogeneity in osteogenesis imperfecta.

David Sillence, A Senn, D. M. Danks · Journal of Medical Genetics · 1979 · 2.2K citations · Full text

Medicine, Genetics, Bone Metabolism +16

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

Peter Beighton, A. De Paepe, D. M. Danks et al. · American Journal of Medical Genetics · 1988 · 733 citations

Medicine, Genetics, Genodermatoses +13

Nosology and classification of genetic skeletal disorders: 2019 revision

Geert Mortier, Daniel H. Cohn, Valérie Cormier‐Daire et al. · American Journal of Medical Genetics Part A · 2019 · 608 citations

Life Sciences, Genetics, Molecular Genetics +11

Nosology and classification of genetic skeletal disorders: 2015 revision

Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall et al. · American Journal of Medical Genetics Part A · 2015 · 565 citations

Life Sciences, Genetics, Molecular Genetics +15

Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis

Annemarie J. van der Slot, Anne‐Marie Zuurmond, A. Bardoel et al. · Journal of Biological Chemistry · 2003 · 412 citations · Full text

Life Sciences, Biochemistry, Genetics +17