Daniel H. Cohn

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

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Patricia L. Tavormina, Rita Shiang, Leslie M. Thompson et al. · Nature Genetics · 1995 · 606 citations

Life Sciences, Genetics, Molecular Genetics +14

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Carlos R. Ferreira, Geert Mortier et al. · American Journal of Medical Genetics Part A · 2023 · 369 citations · Full text

Life Sciences, Biology, Genetics +8

Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

Alain Colige, Aleksander L. Sieroń, Shi-Wu Li et al. · The American Journal of Human Genetics · 1999 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

<i>WNT1</i> Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

Christine Lainé, Kyu Sang Joeng, Philippe M. Campeau et al. · New England Journal of Medicine · 2013 · 356 citations · Full text

Medicine, Genetics, Molecular Genetics +17