William G. Cole

Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia

Stefan Mundlos, F Otto, C Mundlos et al. · Cell · 1997 · 1.5K citations · Full text

Dentistry, Genetics, Molecular Genetics +7

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

Sandra D. Dreyer, Guang Zhou, Antonio Baldini et al. · Nature Genetics · 1998 · 530 citations

Medicine, Genetics, Molecular Genetics +15

<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

Chronic recurrent multifocal osteomyelitis: Clinical outcomes after more than five years of follow-up

Adam M. Huber, Pei‐Yoong Lam, Catherine Duffy et al. · The Journal of Pediatrics · 2002 · 331 citations

Medicine, Orthopaedic Surgery, Surgery +8

Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia

Ernestina Schipani, Craig B. Langman, A. M. Parfitt et al. · New England Journal of Medicine · 1996 · 309 citations · Full text

Medicine, Genetics, Molecular Genetics +14