Andreas Zankl
Professor
Genetic Medicine,
University of Sydney
Australia
Biography
Professor Zankl is a Clinical Geneticist at the Children’s Hospital at Westmead, Professor of Medical Genetics at the University of Sydney, Senior Principal Research Fellow in the Bone Biology Division of the Garvan Institute of Medical Research and Visiting Scientist at the Kinghorn Centre for Clinical Genomics.
Research Interest
In his clinical role, Prof Zankl is an internationally recognised expert on diagnosis and management of skeletal dysplasias, rare genetic disorders affecting skeletal development. He heads the Skeletal Dysplasia Clinic at the Children’s Hospital at Westmead that provides diagnostic advice and multidisciplinary care for children with skeletal dysplasias.
Publications
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Cortes, C., McInerney-Leo, A., Vogel, I., Rondon Galeano, M., Leo, P., Harris, J., Anderson, L., Keith, P., Brown, M., Ramsing, M., Zankl, A., et al (2016). Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. Scientific Reports, 6, 1-10
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Kohler, S., Vasilevsky, N., Engelstad, M., Foster, E., McMurry, J., Ayme, S., Baynam, G., Bello, S., Boerkoel, C., Zankl, A., et al (2017). The Human Phenotype Ontology in 2017. Nucleic Acids Research, 45(D1), D865-D867
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McInerney-Leo, A., Wheeler, L., Marshall, M., Anderson, L., Zankl, A., Brown, M., Leo, P., Wicking, C., Duncan, E. (2017). Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. American Journal of Medical Genetics, Part A, 173A (6), 1698-1704.
