Publications list for Professor David Sillence

2013 | 2012 | 2011 | 2010 | 2009 | 2008


  • Boyd, A., Lo, Q., Devine, K., Tchan, M., Sillence, D., Sadick, N., Richards, D., Thomas, L. (2013), Left atrial enlargement and reduced atrial compliance occurs early in fabry cardiomyopathy. Journal of the American Society of Echocardiography. 26(12), 1415-1423. [Abstract]
  • Alcausin, M., Briody, J., Pacey, V., Ault, J., McQuade, M., Bridge, C., Engelbert, R., Sillence, D., Munns, C. (2013), Intravenous Pamidronate Treatment in Children with Moderate-to-Severe Osteogenesis Imperfecta Started under Three Years of Age. Hormone Research in Paediatrics. 79(6), 333-340. [Abstract]
  • Ireland, P., Ware, R., Donaghey, S., McGill, J., Zankl, A., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., Townshend, S., Johnston, L. (2013), The effect of height, weight and head circumference on gross motor development in achondroplasia. Journal of Paediatrics and Child Health. 49(2), E122-127. [Abstract]
  • Sillence, D. (2013), Genetics and Adolescence. In: A Clinical Handbook in Adolescent Medicine. (pp.635-644).United States: World Scientific Publishing.


  • Geevasinga, N., Tchan, M., Sillence, D., Vucic, S. (2012), Upregulation of inward rectifying currents and Fabry disease neuropathy. Journal of the Peripheral Nervous System. 17(4), 399-406. [Abstract]
  • Nizon, M., Alanay, Y., Tuysuz, B., Kiper, P., Geneviève, D., Sillence, D., Huber, C., Munnich, A., Cormier-Daire, V. (2012), IMPAD1 mutations in two Catel-Manzke like patients. American Journal of Medical Genetics. Part A. 158A(9), 2183-2187. [Abstract]
  • Wu, K., Kohn, M., Turner, A., Sillence, D. (2012), A common presentation of a rare genetic disorder clinically mimicking primary myopathy. Adolescent Medicine: State of the Art Reviews. 23(2), 393-403. [Abstract]
  • Ireland, P., Donaghey, S., McGill, J., Zankl, A., Ware, R., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., Townshend, S., Johnston, L. (2012), Development in children with achondroplasia: a prospective clinical cohort study. Developmental Medicine and Child Neurology. 54(6), 532-537. [Abstract]
  • Ireland, P., Johnson, S., Donaghey, S., Johnston, L., Ware, R., Zankl, A., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., Townshend, S., McGill, J. (2012), Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years. Journal of Paediatrics and Child Health. 48(5), 443-449. [Abstract]
  • Nizon, M., Huber, C., De Leonardis, F., Merrina, R., Forlino, A., Fradin, M., Tuysuz, B., Abu-Libdeh, B., Alanay, Y., Albrecht, B., Al-Gazali, L., Basaran, S., Clayton-Smith, J., Désir, J., Gill, H., Greally, M., Koparir, E., van Maarle, M., Mackay, S., Mortier, G., Morton, J., Sillence, D., Vilain, C., Young, I., Zerres, K., Le Merrer, M., Munnich, A., Le Goff, C., Rossi, A., Cormier-Daire, V. (2012), Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Human Mutation. 33(8), 1261-1266. [Abstract]
  • Cheung, R., Sillence, D., Tchan, M. (2012), Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease. In: JIMD Reports - Case and Research Reports, 2012/3. (pp.101-105).Germany: Springer.
  • Sillence, D., Waters, K., Donaldson, S., Shaw, P., Ellaway, C. (2012), Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI. In: JIMD Reports - Case and Research Reports, 2011/2. (pp.103-106).Germany: Springer.


  • Gray, P., Sillence, D., Kakakios, A. (2011), Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases. International journal of immunogenetics. 38(6), 501-5. [Abstract]
  • Ireland, P., McGill, J., Zankl, A., Ware, R., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., Townshend, S., Johnston, L. (2011), Functional performance in young Australian children with achondroplasia. Developmental medicine and child neurology. 53(10), 944-50. [Abstract]
  • Warman, M., Cormier-Daire, V., Hall, C., Krakow, D., Lachman, R., LeMerrer, M., Mortier, G., Mundlos, S., Nishimura, G., Rimoin, D., Robertson, S., Savarirayan, R., Sillence, D., Spranger, J., Unger, S., Zabel, B., Superti-Furga, A. (2011), Nosology and classification of genetic skeletal disorders: 2010 revision. American Journal of Medical Genetics. Part A. 155A(5), 943-968. [Abstract]
  • Tchan, M., Sillence, D. (2011), Fabry disease and Factor V Leiden: a potent vascular risk combination. Internal Medicine Journal. 41(5), 422-426. [Abstract]
  • Tchan, M., Graf, N., Sillence, D. (2011), Sub-pleural bullous changes in two adults with Mucopolysaccharidosis type I (Hurler-Scheie). Journal of Inherited Metabolic Disease. 34(2), 547-548. [Abstract]
  • Andreucci, E., Aftimos, S., Alcausin, M., Haan, E., Hunter, W., Kannu, P., Kerr, B., McGillivray, G., McKinlay Gardner, R., Patricelli, M., Sillence, D., Thompson, E., Zacharin, M., Zankl, A., Lamandé, S., Savarirayan, R. (2011), TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet Journal of Rare Diseases. 6, 37. [Abstract]
  • Tchan, M., Devine, K., Sillence, D. (2011), Three adult siblings with Mucopolysaccharidosis type II (Hunter syndrome): a report on clinical heterogeneity and 12 months of therapy with idursulfase. JIMD Reports. 1(1), 57-64.


  • Unger, S., Lausch, E., Rossi, A., Mégarbané, A., Sillence, D., Alcausin, M., Aytes, A., Mendoza-Londono, R., Nampoothiri, S., Afroze, B., Hall, B., Lo, I., Lam, S., Hoefele, J., Rost, I., Wakeling, E., Mangold, E., Godbole, K., Vatanavicharn, N., Franco, L., Chandler, K., Hollander, S., Velten, T., Reicherter, K., Spranger, J., Robertson, S., Bonafé, L., Zabel, B., Superti-Furga, A. (2010), Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. American Journal of Medical Genetics. Part A. 152A(10), 2543-2549. [Abstract]
  • David-Vizcarra, G., Briody, J., Ault, J., Fietz, M., Fletcher, J., Savarirayan, R., Wilson, M., McGill, J., Edwards, M., Munns, C., Alcausin, M., Cathey, S., Sillence, D. (2010), The natural history and osteodystrophy of mucolipidosis types II and III. Journal of paediatrics and child health. 46(6), 316-22. [Abstract]
  • Sparrow, D., Sillence, D., Wouters, M., Turnpenny, P., Dunwoodie, S. (2010), Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. European journal of human genetics : EJHG. 18(6), 674-9. [Abstract]
  • Balasubramaniam, S., Bowling, F., Carpenter, K., Earl, J., Chaitow, J., Pitt, J., Mornet, E., Sillence, D., Ellaway, C. (2010), Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability. Journal of Inherited Metabolic Disease. 0(0), 0. [Abstract]
  • Ireland, P., Johnson, S., Donaghey, S., Johnston, L., McGill, J., Zankl, A., Ware, R., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., Townshend, S. (2010), Developmental milestones in infants and young Australasian children with achondroplasia. Journal of Developmental and Behavioral Pediatrics. 31(1), 41-47. [Abstract]


  • Tinkle, B., Bird, H., Grahame, R., Lavallee, M., Levy, H., Sillence, D. (2009), The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). American Journal of Medical Genetics. Part A. 149A(11), 2368-2370. [Abstract]
  • Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S., Li, Y., Shboul, M., Tham, P., Kayserili, H., Al-Gazali, L., Shahwan, M., Brancati, F., Lee, H., O'Connor, B., Schmidt-von Kegler, M., Merriman, B., Nelson, S., Masri, A., Alkazaleh, F., Guerra, D., Ferrari, P., Nanda, A., Rajab, A., Markie, D., Gray, M., Nelson, J., Grix, A., Sommer, A., Savarirayan, R., Janecke, A., Steichen, E., Sillence, D., Hausser, I., Budde, B., Nürnberg, G., Nürnberg, P., Seemann, P., Kunkel, D., Zambruno, G., Dallapiccola, B., Schuelke, M., Robertson, S., Hamamy, H., Wollnik, B., Van Maldergem, L., Mundlos, S., Kornak, U. (2009), Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics. 41(9), 1016-1021. [Abstract]
  • Ramjan, K., Roscioli, T., Rutsch, F., Sillence, D., Munns, C. (2009), Generalized arterial calcification of infancy: treatment with bisphosphonates. Nature Clinical Practice Endocrinology & Metabolism. 5(3), 167-172. [Abstract]
  • Huber, C., Delezoide, A., Guimiot, F., Baumann, C., Malan, V., Le Merrer, M., Da Silva, D., Bonneau, D., Chatelain, P., Chu, C., Clark, R., Cox, H., Edery, P., Edouard, T., Fano, V., Gibson, K., Gillessen-Kaesbach, G., Giovannucci-Uzielli, M., Graul-Neumann, L., van Hagen, J., van Hest, L., Horovitz, D., Melki, J., Partsch, C., Plauchu, H., Rajab, A., Rossi, M., Sillence, D., Steichen-Gersdorf, E., Stewart, H., Unger, S., Zenker, M., Munnich, A., Cormier-Daire, V. (2009), A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. European Journal of Human Genetics. 17(3), 395-400. [Abstract]
  • Bijarnia, S., Shaw, P., Vimpani, A., Smith, R., Pacey, V., O'Grady, H., Christodoulou, J., Sillence, D. (2009), Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome. Journal of Paediatrics and Child Health. 45(7-8), 469-472. [Abstract]
  • Tofts, L., Elliott, E., Munns, C., Pacey, V., Sillence, D. (2009), The differential diagnosis of children with joint hypermobility: a review of the literature. Pediatric Rheumatology Online Journal. 7(0), 1. [Abstract]


  • Kaplan, F., Xu, M., Glaser, D., Collins, F., Connor, M., Kitterman, J., Sillence, D., Zackai, E., Ravitsky, V., Zasloff, M., Ganguly, A., Shore, E. (2008), Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics. 121(5), e1295-300. [Abstract]
  • Gleeson, H., Wiltshire, E., Briody, J., Hall, J., Chaitow, J., Sillence, D., Cowell, C., Munns, C. (2008), Childhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shape. The Journal of Rheumatology. 35(4), 707-712. [Abstract]