Sillence, David
The University of Sydney · Children's Hospital at Westmead
8 papers on CoChatORCID 0000-0002-5638-2998
Most cited papers
- Verified
International nosology of heritable disorders of connective tissue, Berlin, 1986
Beighton, P., de Paepe, A., Danks, D., Finidori, G., Gedde‐Dahl, T., Goodman, R., Hall, J. G., Hollister, D. W., Horton, W., McKusick, V. A., et al. (1988) · American Journal of Medical Genetics
Connective tissue disorders researchGenomics and Rare Diseases
Cited by 732
- Verified
Nosology and classification of genetic skeletal disorders: 2019 revision
Mortier, G. R., Cohn, D. H., Cormier‐Daire, V., Hall, C., Krakow, D., Mundlos, S., Nishimura, G., Robertson, S., Sangiorgi, L., Savarirayan, R., et al. (2019) · American Journal of Medical Genetics Part A
Connective tissue disorders researchGenomics and Rare Diseases
Cited by 600
- Verified
Nosology and classification of genetic skeletal disorders: 2015 revision
Bonafe, L., Cormier‐Daire, V., Hall, C., Lachman, R., Mortier, G., Mundlos, S., Nishimura, G., Sangiorgi, L., Savarirayan, R., Sillence, D., et al. (2015) · American Journal of Medical Genetics Part A
Connective tissue disorders researchGenomics and Rare Diseases
Cited by 569
- Verified
The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome)
Tinkle, B. T., Bird, H. A., Grahame, R., Lavallee, M., Levy, H. P., & Sillence, D. (2009) · American Journal of Medical Genetics Part A
Connective tissue disorders researchDermatological and Skeletal Disorders
Cited by 290
- Verified
NAD Deficiency, Congenital Malformations, and Niacin Supplementation
Shi, H., Enriquez, A., Rapadas, M., Martin, E. M. M. A., Wang, R., Moreau, J., Lim, C. K., Szot, J. O., Ip, E., Hughes, J. N., et al. (2017) · New England Journal of Medicine
Metabolism and Genetic DisordersGenomics and Rare Diseases
Cited by 246
- Verified
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders
Gensure, R. C., Mäkitie, O., Barclay, C., Chan, C., DePalma, S. R., Bastepe, M., Abuzahra, H., Couper, R., Mundlos, S., Sillence, D., et al. (2005) · Journal of Clinical Investigation
Connective tissue disorders researchDermatological and Skeletal Disorders
Cited by 172
- Verified
The differential diagnosis of children with joint hypermobility: a review of the literature
Tofts, L. J., Elliott, E. J., Munns, C., Pacey, V., & Sillence, D. O. (2009) · Pediatric Rheumatology
Connective tissue disorders researchOral and gingival health research
Cited by 109
- Verified
ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components
Rohrbach, M., Spencer, H. L., Porter, L. F., Burkitt-Wright, E. M. M., Bürer, C., Janecke, A., Bakshi, M., Sillence, D., Al-Hussain, H., Baumgartner, M., et al. (2013) · Molecular Genetics and Metabolism
Connective tissue disorders researchCorneal surgery and disorders
Cited by 83
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