Professor David Sillence

AM
Professor
Genetic Medicine, Children's Hospital, Westmead

Telephone +61 2 9845 3215
Fax +61 2 9845 3204

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Research interests

Professor Sillence is the foundation chair of Medical Genetics in the University of Sydney. An honours graduate of the University of Sydney, he obtained his MD in Medical Genetics from the University of Melbourne 1978.

He serves on the education committee of the Human Genetics Society of Australasia, the International Nomenclature Committee for Constitutional Disorders of the Skeletal, the International Mucopolysaccharidosis type I expert committee, the National Fabry Disease and MPS expert committees for the LSDP. David Sillence’s current research interests include a) Genetics and treatment of osteopenic and other metabolic bone disorders of childhood, b) Characterization of the molecular genetics and pathogenesis of specific skeletal birth defects in mouse and man, c) Consanguinity and paediatric morbidity/population genetics of consanguinity in Middle Eastern Populations, d) Evaluation of Innovative Genetic Therapies. These studies are being undertaken with a range of collaborators from within the Children’s Hospital at Westmead, the research institutes in Sydney and with overseas geneticists. Our studies in the genetics and treatment of osteopenic and other metabolic bone disorders has lead to the development of i) Normal range of bone density and skeletal metabolise in children, ii) a delineation of the natural history of various skeletal disorders collectively known as Osteogenesis Imperfecta and iii) the definition of the specific conditions for treatment of these disorders with Bisphosphonates. Professor Sillence has also worked closely with the Victor Chang Developmental Biology Unit at the Garvan Institute in Sydney in developing an approach to studying congenital anomalies of spine development. Professor Sillence has over considerable period developed studies related to consanguinity and paediatric morbidity. Future research involves a detailed analysis of the disorders in specific populations. This will allow us to develop population screening technologies and so be able to offer couples accurate population specific genetic testing in the future. Our approaches include Autozygosity Mapping to characterize rare autosomal recessive disorders in the client populations. The collaborative group is developing a confidential register of information about rare disorders in these population. David Sillence also formed the centre for the evaluation of Innovative Genetic Therapies at the Westmead Hospital and the Children’s Hospital at Westmead to evaluate innovative therapies such as Enzyme Replacement and Substrate Reduction Therapies in the treatment of Lysosomal Storage Disorders in Adults and Children.

Selected grants

2004

  • Area Health Service contributions to Research only staff; Jamieson R, Sillence D; Children's Hospital at Westmead/Contributions to research positions.

2003

  • Area Health Service contributions to Research only staff; Jamieson R, Sillence D; Children's Hospital at Westmead/Contributions to research positions.

Selected publications

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Book Chapters

  • Sillence, D. (2013). Genetics and Adolescence. In Kate Steinbeck, Michael Kohn (Eds.), A Clinical Handbook in Adolescent Medicine: A Guide for Health Professionals Who Work with Adolescents and Young Adults, (pp. 635-643). Singapore: World Scientific Publishing.
  • 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 Society for the Study of Inborn Errors of Metabolism (Eds.), JIMD Reports - Case and Research Reports, 2011/2, (pp. 103-106). Heidelberg: Springer.
  • Cheung, R., Sillence, D., Tchan, M. (2012). Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease. In Society for the Study of Inborn Errors of Metabolism (Eds.), JIMD Reports - Case and Research Reports, 2012/3, (pp. 101-105). New York: Springer.
  • Tchan, M., Sillence, D., Devine, K. (2011). Three adult siblings with Mucopolysaccharidosis type II (Hunter syndrome): a report on clinical heterogeneity and 12 months of therapy with idursulfase. JIMD Reports, (pp. 57-64). Berlin: Springer Verlag.

Journals

  • Van Dijk, F., Sillence, D. (2014). Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment. American Journal of Medical Genetics. Part A, 164(6), 1470-1481. [More Information]
  • Lazarus, S., McInerney-Leo, A., McKenzie, F., Baynam, G., Broley, S., Cavan, B., Munns, C., Pruijs, H., Sillence, D., Terhal, P., et al (2014). The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. BMC Musculoskeletal Disorders, 15(1), 1-6. [More Information]
  • 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. [More Information]
  • 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. [More Information]
  • Ireland, P., Ware, R., Donaghey, S., McGill, J., Zankl, A., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., et al (2013). The effect of height, weight and head circumference on gross motor development in achondroplasia. Journal of Paediatrics and Child Health, 49(2), E122-E127. [More Information]
  • 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. [More Information]
  • Ireland, P., Donaghey, S., McGill, J., Zankl, A., Ware, R., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., et al (2012). Development in children with achondroplasia: a prospective clinical cohort study. Developmental Medicine and Child Neurology, 54(6), 532`-537. [More Information]
  • Nizon, M., Huber, C., De Leonardis, F., Merrina, R., Forlino, A., Fradin, M., Tuysuz, B., Abu-Libdeh, B., Alanay, Y., Albrecht, B., Sillence, D., et al (2012). Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis. Human Mutation, 33(8), 1261-1266. [More Information]
  • Nizon, M., Alanay, Y., Tuysuz, B., Kiper, P., Genevieve, 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. [More Information]
  • Ireland, P., Johnson, S., Donaghey, S., Johnston, L., Ware, R., Zankl, A., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., et al (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. [More Information]
  • 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. [More Information]
  • Tchan, M., Sillence, D. (2011). Fabry disease and Factor V Leiden: a potent vascular risk combination. Internal Medicine Journal, 41(5), 422-426. [More Information]
  • Ireland, P., McGill, J., Zankl, A., Ware, R., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., Townshend, S., et al (2011). Functional performance in young Australian children with achondroplasia. Developmental Medicine and Child Neurology, 53(10), 944-950. [More Information]
  • 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), 501-505. [More Information]
  • Warman, M., Cormier-Daire, V., Hall, C., Krakow, D., Lachman, R., LeMerrer, M., Mortier, G., Mundlos, S., Nishimura, G., et al, Sillence, D. (2011). Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision. American Journal of Medical Genetics. Part A, 155A (5), 943-968. [More Information]
  • 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 (JIMD), 34(2), 547-548. [More Information]
  • Andreucci, E., Aftimos, S., Alcausin, M., Haan, E., Hunter, W., Kannu, P., Kerr, B., McGillivray, G., McKinlay Gardner, R., Patricelli, M., Sillence, D., et al (2011). TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet Journal of Rare Diseases, 6(1), Article number 37-1-Article number 37-8. [More Information]
  • Ireland, P., Johnson, S., Donaghey, S., Johnson, L., McGill, J., Zankl, A., Ware, R., Pacey, V., Ault, J., Sillence, D., et al (2010). Developmental milestones in infants and young Australasian children with achondroplasia. Journal of Developmental and Behavioral Pediatrics, 31(1), 41-47. [More Information]
  • Balasubramaniam, S., Bowling, F., 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 (JIMD). [More Information]
  • Unger, S., Lausch, E., Rossi, A., Megarbane, A., Sillence, D., Alcausin, M., Aytes, A., Mendoza-Londono, R., Nampoothiri, S., Afroze, B., et al (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. [More Information]
  • David-Vizcarra, G., Briody, J., Ault, J., Fietz, M., Fletcher, J., Savarirayan, R., Wilson, M., McGill, J., Edwards, M., Munns, C., Sillence, D., et al (2010). The natural history and osteodystrophy of mucolipidosis types II and III. Journal of Paediatrics and Child Health, 46(6), 316-322. [More Information]
  • 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, 18(6), 674-679. [More Information]
  • Huber, C., Delezoide, A., Guimiot, F., Baumann, C., Malan, V., Le Merrer, M., Bezerra Da Silva, D., Bonneau, D., Chatelain, P., Sillence, D., et al (2009). A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. European Journal of Human Genetics, 17(3), 395-400. [More Information]
  • Bijarnia, S., 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, 469-472. [More Information]
  • Ramjan, K., Roscioli, T., Rutsch, F., Sillence, D., Munns, C. (2009). Generalized arterial calcification of infancy: treatment with bisphosphonates. Nature clinical practice: Endocrinology and metabolism, 5(3), 167-172. [More Information]
  • Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S., Li, Y., Shboul, M., Tham, P., et al, Sillence, D. (2009). Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics, 41(9), 1016-1021. [More Information]
  • 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(1), 1-1-1-10. [More Information]
  • 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, 149(11), 2368-2370. [More Information]
  • 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. Journal of Rheumatology, 35(4), 707-712. [More Information]
  • Kaplan, F., Xu, M., Glaser, D., Collins, F., Connor, M., Kitterman, J., Sillence, D., Zackai, E., Ravitsky, V., Zasloff, M., et al (2008). Early diagnosis of Fibrodysplasia Ossificans Progressiva. Pediatrics, 121(5), e1295-e1300. [More Information]
  • Ho, M., Tsang, K., Lo, R., Susic, M., Makitie, O., Chan, T., Ng, V., Sillence, D., Boot-Handford, R., Gibson, G., et al (2007). COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid. Human Molecular Genetics, 16(10), 1201-1215. [More Information]
  • Hoornaert, K., Marik, I., Kozlowski, K., Cole, T., Merrer, M., Leroy, J., Coucke, P., Sillence, D., Mortier, G. (2007). Czech dysplasia metatarsal type: another type II collagen disorder. European Journal of Human Genetics, 15(12), 1269-1275. [More Information]
  • Martin, L., Sturgess, A., Sillence, D., Murrell, D. (2007). Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia. The Australasian Journal of Dermatology, 48(1), 40-42. [More Information]
  • Eng, C., Fletcher, J., Wilcox, W., Waldek, S., Scott, C., Sillence, D., Breunig, F., Charrow, J., Germain, D., Nicholls, K., et al (2007). Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. Journal of Inherited Metabolic Disease (JIMD), 30(2), 184-192. [More Information]
  • Sparrow, D., Wouters, M., Whittock, N., Ellard, S., Fatkin, D., Turnpenny, P., Kusumi, K., Dunwoodie, S., Sillence, D., Chapman, G. (2006). Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. American Journal of Human Genetics, 78(1). [More Information]
  • Gabbett, M., Jones, K., Cowell, C., Sillence, D., Wilson, M. (2006). Neonatal severe hyperparathyroidism: An important clue to the aetiology. Journal of Paediatrics and Child Health, 42(12), 813-816. [More Information]
  • Gensure, R., Makitie, O., Barclay, C., Chan, C., DePalma, S., Bastepe, M., Abuzahra, H., Couper, R., Mundlos, S., Sillence, D., et al (2005). A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. Journal of Clinical Investigation, 115(5), 1250-1257. [More Information]
  • Bajaj, R., Smith, J., Trochet, D., Pitkin, J., Ouvrier, R., Graf, N., Sillence, D., Kluckow, M. (2005). Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. Pediatrics, 115(6), e737-e738. [More Information]
  • Fleming, F., Woodhead, H., Briody, J., Hall, J., Cowell, C., Ault, J., Kozlowski, K., Sillence, D. (2005). Cyclic bisphosphonate therapy in osteogenesis imperfecta type V. Journal of Paediatrics and Child Health, 41(3), 147-151. [More Information]
  • Sillence, D., Grewal, S., Wynn, R., Abdenur, J., Burton, B., Gharib, M., Haase, C., Hayashi, R., Shenoy, S., Tiller, G., et al (2005). Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genetics in Medicine, 7(2), 143-146. [More Information]
  • Neas, K., Smith, J., Chia, N., Huseyin, S., St Heaps, L., Sholler, G., Tzioumi, D., Sillence, D., Mowat, D. (2005). Three patients with terminal deletions within the subtelomeric region of chromosome 9q. American Journal of Medical Genetics. Part A, 132(4), 425-30. [More Information]
  • Hein, L., Bawden, M., Muller, V., Sillence, D., Hopwood, J., Brooks, D. (2004). Alpha-L-Iduronidase Premature Stop Codons And Potential Read-Through In Mucopolysaccharidosis Type I Patients. Journal of Molecular Biology, 338(3), 453-462. [More Information]
  • Lam, W., Sillence, D., Chan, H. (2003). Desbuquois syndrome: Clinical and radiological report of the first two Chinese cases from a consanguineous family. Journal of Paediatrics and Child Health, 39(9), 707-712.
  • Van der Slot, A., Zuurmond, A., Bardoel, A., Wijmenga, C., Pruijs, H., Sillence, D., Brinckmann, J., Abraham, D., Black, C., Verzijl, N., et al (2003). Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis. Journal of Biological Chemistry, 278(42), 40967-40972.
  • Robinson, C., Sillence, D. (2003). The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. Journal of Inherited Metabolic Disease (JIMD), 11, 681-693.
  • Kozlowski, K., Masel, J., Sillence, D., Arbuckle, S., Juttnerova, V. (2002). Gracile bone dysplasias. Pediatric Radiology: roentgenology, nuclear medicine, ultrasonics, CT, MRI, 32(9), 629-634. [More Information]
  • Beighton, P., Francomano, C., Giedion, A., Hall, C., Hall, J., Horton, W., Kaitila, I., Krakow, D., Lachman, R., Sillence, D., et al (2002). International nosology and classification of constitutional disorders of bone (2001). American Journal of Medical Genetics. Part A, 113(1), 65-77.
  • Dahlstrom, J., Peek, M., Reynolds, G., Sillence, D., Arbuckle, S., Kozlowski, K., Thomson, M. (2001). Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). Pathology, 33, 521-525.
  • Widmer, R., Sillence, D., Mahoney, E. (2001). Opalescent dentine in two affected siblings. New Zealand Dental Journal, 97, 16-18.
  • Sillence, D., Taillandier, A., Lia-Baldini,, A., Mouchard, M., Muller, F., Simon-Bouy, B., Serre, J., Bera-Louville, A., Bonduelle,, M., Eckhardt,, J., et al (2001). Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. Human Mutation, 18, 83-84.
  • Reardon, W., Smith, A., Honour, J., Hindmarsh, P., Das, D., Rumsby, G., Nelson, I., Malcolm, S., Ades, L., Sillence, D., et al (2000). Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? Journal of Medical Genetics, 37, 26-32.
  • McCusker, E., Richards, F., Sillence, D., Wilson, M., Trent, R. (2000). Huntington's disease: neurological assessment of potential gene carriers presenting for predictive DNA testing. Journal of Clinical Neuroscience.

Conferences

  • Cowell, C., Sillence, D., Al-Agha,, A., Briody, J., Hall, J., Anderson, D. (2001). Cyclic intravenous Pamidronate therapy in chronic recurrent multifocal osteomyelitis (CRMO): A report of two cases. 6th Joint Meeting of the Lawslon Wilkins Pediatric Endocrine Society & the European Society for Paediatric Endocrinology, : World Scientific Publishing.
  • Cowell, C., Sillence, D., Hooper, M., Briody, J., Hall, J., Ault, J. (2001). Monthly versus second monthly intravenous pamidronate therapy for osteogenesis imperfecta. 6th Joint Meeting of the Lawskin Wilkins Pediatric Endocrine Society & the European Society for Paediatric Endocrinology, : World Scientific Publishing.
  • Sillence, D., Briody, J., Hall, J., Ault, J., Howman-Giles, R., Cowell, C., Hooper, M. (2000). Cyclic intravenous pamidronate therapy for osteogenesis imperfecta. Australian and New Zealand Bone and Mineral Society 10th Annual Scientific Meeting - International Bone and Hormone Meeting.

2014

  • Van Dijk, F., Sillence, D. (2014). Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment. American Journal of Medical Genetics. Part A, 164(6), 1470-1481. [More Information]
  • Lazarus, S., McInerney-Leo, A., McKenzie, F., Baynam, G., Broley, S., Cavan, B., Munns, C., Pruijs, H., Sillence, D., Terhal, P., et al (2014). The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. BMC Musculoskeletal Disorders, 15(1), 1-6. [More Information]

2013

  • Sillence, D. (2013). Genetics and Adolescence. In Kate Steinbeck, Michael Kohn (Eds.), A Clinical Handbook in Adolescent Medicine: A Guide for Health Professionals Who Work with Adolescents and Young Adults, (pp. 635-643). Singapore: World Scientific Publishing.
  • 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. [More Information]
  • 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. [More Information]
  • Ireland, P., Ware, R., Donaghey, S., McGill, J., Zankl, A., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., et al (2013). The effect of height, weight and head circumference on gross motor development in achondroplasia. Journal of Paediatrics and Child Health, 49(2), E122-E127. [More Information]

2012

  • 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. [More Information]
  • 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 Society for the Study of Inborn Errors of Metabolism (Eds.), JIMD Reports - Case and Research Reports, 2011/2, (pp. 103-106). Heidelberg: Springer.
  • Ireland, P., Donaghey, S., McGill, J., Zankl, A., Ware, R., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., et al (2012). Development in children with achondroplasia: a prospective clinical cohort study. Developmental Medicine and Child Neurology, 54(6), 532`-537. [More Information]
  • Nizon, M., Huber, C., De Leonardis, F., Merrina, R., Forlino, A., Fradin, M., Tuysuz, B., Abu-Libdeh, B., Alanay, Y., Albrecht, B., Sillence, D., et al (2012). Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis. Human Mutation, 33(8), 1261-1266. [More Information]
  • Cheung, R., Sillence, D., Tchan, M. (2012). Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease. In Society for the Study of Inborn Errors of Metabolism (Eds.), JIMD Reports - Case and Research Reports, 2012/3, (pp. 101-105). New York: Springer.
  • Nizon, M., Alanay, Y., Tuysuz, B., Kiper, P., Genevieve, 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. [More Information]
  • Ireland, P., Johnson, S., Donaghey, S., Johnston, L., Ware, R., Zankl, A., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., et al (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. [More Information]
  • 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. [More Information]

2011

  • Tchan, M., Sillence, D. (2011). Fabry disease and Factor V Leiden: a potent vascular risk combination. Internal Medicine Journal, 41(5), 422-426. [More Information]
  • Ireland, P., McGill, J., Zankl, A., Ware, R., Pacey, V., Ault, J., Savarirayan, R., Sillence, D., Thompson, E., Townshend, S., et al (2011). Functional performance in young Australian children with achondroplasia. Developmental Medicine and Child Neurology, 53(10), 944-950. [More Information]
  • 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), 501-505. [More Information]
  • Warman, M., Cormier-Daire, V., Hall, C., Krakow, D., Lachman, R., LeMerrer, M., Mortier, G., Mundlos, S., Nishimura, G., et al, Sillence, D. (2011). Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision. American Journal of Medical Genetics. Part A, 155A (5), 943-968. [More Information]
  • 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 (JIMD), 34(2), 547-548. [More Information]
  • Tchan, M., Sillence, D., Devine, K. (2011). Three adult siblings with Mucopolysaccharidosis type II (Hunter syndrome): a report on clinical heterogeneity and 12 months of therapy with idursulfase. JIMD Reports, (pp. 57-64). Berlin: Springer Verlag.
  • Andreucci, E., Aftimos, S., Alcausin, M., Haan, E., Hunter, W., Kannu, P., Kerr, B., McGillivray, G., McKinlay Gardner, R., Patricelli, M., Sillence, D., et al (2011). TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet Journal of Rare Diseases, 6(1), Article number 37-1-Article number 37-8. [More Information]

2010

  • Ireland, P., Johnson, S., Donaghey, S., Johnson, L., McGill, J., Zankl, A., Ware, R., Pacey, V., Ault, J., Sillence, D., et al (2010). Developmental milestones in infants and young Australasian children with achondroplasia. Journal of Developmental and Behavioral Pediatrics, 31(1), 41-47. [More Information]
  • Balasubramaniam, S., Bowling, F., 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 (JIMD). [More Information]
  • Unger, S., Lausch, E., Rossi, A., Megarbane, A., Sillence, D., Alcausin, M., Aytes, A., Mendoza-Londono, R., Nampoothiri, S., Afroze, B., et al (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. [More Information]
  • David-Vizcarra, G., Briody, J., Ault, J., Fietz, M., Fletcher, J., Savarirayan, R., Wilson, M., McGill, J., Edwards, M., Munns, C., Sillence, D., et al (2010). The natural history and osteodystrophy of mucolipidosis types II and III. Journal of Paediatrics and Child Health, 46(6), 316-322. [More Information]
  • 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, 18(6), 674-679. [More Information]

2009

  • Huber, C., Delezoide, A., Guimiot, F., Baumann, C., Malan, V., Le Merrer, M., Bezerra Da Silva, D., Bonneau, D., Chatelain, P., Sillence, D., et al (2009). A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. European Journal of Human Genetics, 17(3), 395-400. [More Information]
  • Bijarnia, S., 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, 469-472. [More Information]
  • Ramjan, K., Roscioli, T., Rutsch, F., Sillence, D., Munns, C. (2009). Generalized arterial calcification of infancy: treatment with bisphosphonates. Nature clinical practice: Endocrinology and metabolism, 5(3), 167-172. [More Information]
  • Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S., Li, Y., Shboul, M., Tham, P., et al, Sillence, D. (2009). Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics, 41(9), 1016-1021. [More Information]
  • 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(1), 1-1-1-10. [More Information]
  • 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, 149(11), 2368-2370. [More Information]

2008

  • 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. Journal of Rheumatology, 35(4), 707-712. [More Information]
  • Kaplan, F., Xu, M., Glaser, D., Collins, F., Connor, M., Kitterman, J., Sillence, D., Zackai, E., Ravitsky, V., Zasloff, M., et al (2008). Early diagnosis of Fibrodysplasia Ossificans Progressiva. Pediatrics, 121(5), e1295-e1300. [More Information]

2007

  • Ho, M., Tsang, K., Lo, R., Susic, M., Makitie, O., Chan, T., Ng, V., Sillence, D., Boot-Handford, R., Gibson, G., et al (2007). COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid. Human Molecular Genetics, 16(10), 1201-1215. [More Information]
  • Hoornaert, K., Marik, I., Kozlowski, K., Cole, T., Merrer, M., Leroy, J., Coucke, P., Sillence, D., Mortier, G. (2007). Czech dysplasia metatarsal type: another type II collagen disorder. European Journal of Human Genetics, 15(12), 1269-1275. [More Information]
  • Martin, L., Sturgess, A., Sillence, D., Murrell, D. (2007). Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia. The Australasian Journal of Dermatology, 48(1), 40-42. [More Information]
  • Eng, C., Fletcher, J., Wilcox, W., Waldek, S., Scott, C., Sillence, D., Breunig, F., Charrow, J., Germain, D., Nicholls, K., et al (2007). Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. Journal of Inherited Metabolic Disease (JIMD), 30(2), 184-192. [More Information]

2006

  • Sparrow, D., Wouters, M., Whittock, N., Ellard, S., Fatkin, D., Turnpenny, P., Kusumi, K., Dunwoodie, S., Sillence, D., Chapman, G. (2006). Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. American Journal of Human Genetics, 78(1). [More Information]
  • Gabbett, M., Jones, K., Cowell, C., Sillence, D., Wilson, M. (2006). Neonatal severe hyperparathyroidism: An important clue to the aetiology. Journal of Paediatrics and Child Health, 42(12), 813-816. [More Information]

2005

  • Gensure, R., Makitie, O., Barclay, C., Chan, C., DePalma, S., Bastepe, M., Abuzahra, H., Couper, R., Mundlos, S., Sillence, D., et al (2005). A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. Journal of Clinical Investigation, 115(5), 1250-1257. [More Information]
  • Bajaj, R., Smith, J., Trochet, D., Pitkin, J., Ouvrier, R., Graf, N., Sillence, D., Kluckow, M. (2005). Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. Pediatrics, 115(6), e737-e738. [More Information]
  • Fleming, F., Woodhead, H., Briody, J., Hall, J., Cowell, C., Ault, J., Kozlowski, K., Sillence, D. (2005). Cyclic bisphosphonate therapy in osteogenesis imperfecta type V. Journal of Paediatrics and Child Health, 41(3), 147-151. [More Information]
  • Sillence, D., Grewal, S., Wynn, R., Abdenur, J., Burton, B., Gharib, M., Haase, C., Hayashi, R., Shenoy, S., Tiller, G., et al (2005). Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genetics in Medicine, 7(2), 143-146. [More Information]
  • Neas, K., Smith, J., Chia, N., Huseyin, S., St Heaps, L., Sholler, G., Tzioumi, D., Sillence, D., Mowat, D. (2005). Three patients with terminal deletions within the subtelomeric region of chromosome 9q. American Journal of Medical Genetics. Part A, 132(4), 425-30. [More Information]

2004

  • Hein, L., Bawden, M., Muller, V., Sillence, D., Hopwood, J., Brooks, D. (2004). Alpha-L-Iduronidase Premature Stop Codons And Potential Read-Through In Mucopolysaccharidosis Type I Patients. Journal of Molecular Biology, 338(3), 453-462. [More Information]

2003

  • Lam, W., Sillence, D., Chan, H. (2003). Desbuquois syndrome: Clinical and radiological report of the first two Chinese cases from a consanguineous family. Journal of Paediatrics and Child Health, 39(9), 707-712.
  • Van der Slot, A., Zuurmond, A., Bardoel, A., Wijmenga, C., Pruijs, H., Sillence, D., Brinckmann, J., Abraham, D., Black, C., Verzijl, N., et al (2003). Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis. Journal of Biological Chemistry, 278(42), 40967-40972.
  • Robinson, C., Sillence, D. (2003). The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. Journal of Inherited Metabolic Disease (JIMD), 11, 681-693.

2002

  • Kozlowski, K., Masel, J., Sillence, D., Arbuckle, S., Juttnerova, V. (2002). Gracile bone dysplasias. Pediatric Radiology: roentgenology, nuclear medicine, ultrasonics, CT, MRI, 32(9), 629-634. [More Information]
  • Beighton, P., Francomano, C., Giedion, A., Hall, C., Hall, J., Horton, W., Kaitila, I., Krakow, D., Lachman, R., Sillence, D., et al (2002). International nosology and classification of constitutional disorders of bone (2001). American Journal of Medical Genetics. Part A, 113(1), 65-77.

2001

  • Cowell, C., Sillence, D., Al-Agha,, A., Briody, J., Hall, J., Anderson, D. (2001). Cyclic intravenous Pamidronate therapy in chronic recurrent multifocal osteomyelitis (CRMO): A report of two cases. 6th Joint Meeting of the Lawslon Wilkins Pediatric Endocrine Society & the European Society for Paediatric Endocrinology, : World Scientific Publishing.
  • Dahlstrom, J., Peek, M., Reynolds, G., Sillence, D., Arbuckle, S., Kozlowski, K., Thomson, M. (2001). Lethal prenatal onset infantile cortical hyperostosis (Caffey disease). Pathology, 33, 521-525.
  • Cowell, C., Sillence, D., Hooper, M., Briody, J., Hall, J., Ault, J. (2001). Monthly versus second monthly intravenous pamidronate therapy for osteogenesis imperfecta. 6th Joint Meeting of the Lawskin Wilkins Pediatric Endocrine Society & the European Society for Paediatric Endocrinology, : World Scientific Publishing.
  • Widmer, R., Sillence, D., Mahoney, E. (2001). Opalescent dentine in two affected siblings. New Zealand Dental Journal, 97, 16-18.
  • Sillence, D., Taillandier, A., Lia-Baldini,, A., Mouchard, M., Muller, F., Simon-Bouy, B., Serre, J., Bera-Louville, A., Bonduelle,, M., Eckhardt,, J., et al (2001). Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. Human Mutation, 18, 83-84.

2000

  • Sillence, D., Briody, J., Hall, J., Ault, J., Howman-Giles, R., Cowell, C., Hooper, M. (2000). Cyclic intravenous pamidronate therapy for osteogenesis imperfecta. Australian and New Zealand Bone and Mineral Society 10th Annual Scientific Meeting - International Bone and Hormone Meeting.
  • Reardon, W., Smith, A., Honour, J., Hindmarsh, P., Das, D., Rumsby, G., Nelson, I., Malcolm, S., Ades, L., Sillence, D., et al (2000). Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? Journal of Medical Genetics, 37, 26-32.
  • McCusker, E., Richards, F., Sillence, D., Wilson, M., Trent, R. (2000). Huntington's disease: neurological assessment of potential gene carriers presenting for predictive DNA testing. Journal of Clinical Neuroscience.

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