Professor Andreas Zankl

Professor of Medical Genetics
Genetic Medicine, Children's Hospital, Westmead

Telephone +61 2 9845 3215

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Biographical details

Professor Zankl is a Clinical Geneticist at the Children’s Hospital at Westmead, Professor of Medical Genetics at the University of Sydney, a Senior Principal Research Fellow in the Bone Biology Division of the Garvan Institute of Medical Research and a Visiting Scientist at the Kinghorn Centre for Clinical Genomics. He holds clinical genetics specialist qualifications from Switzerland and Australia, a medical doctorate in molecular biology and virology from Humboldt University, Germany and a Postgraduate Certificate in Bioinformatics from the University of Manchester, UK.

Research interests

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.
Prof Zankl is interested in the clinical and molecular characterisation of skeletal dysplasias. He uses Whole Genome Sequencing and other high-throughput genetic technologies to identify the genetic basis of skeletal dysplasias and related disorders such as osteoporosis and osteoarthritis. Prof Zankl is particularly interested in how clinical information can be combined with these large biological data sets to gain new insights into the disease mechanisms and skeletal biology. His research approach makes use of ontologies such as the Human Phenotype Ontology and applies data visualisation, machine learning, text mining and other computational data analysis strategies to clinical and genomic datasets.

Prof Zankl's other research areas are clinical genomics, bioinformatics, computational biology and computational medicine. He is particularly interested in the systematic capture and processing of clinical information to enable computational approaches to clinical data and to facilitate the integration of clinical data with the large biological datasets created by Whole Genome Sequencing and other -omics technologies. His research approach makes use of ontologies such as the Human Phenotype Ontology and applies data visualisation, machine learning and other 'Big Data' mining strategies to large clinical and genomic datasets.

Selected publications

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Journals

  • 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. [More Information]
  • 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. [More Information]
  • 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. [More Information]
  • McInerney-Leo, A., Le Goff, C., Leo, P., Kenna, T., Keith, P., Harris, J., Steer, R., Bole-Feysot, C., Nitschke, P., Zankl, A., et al (2016). Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. Journal of Medical Genetics, 53(7), 457-464. [More Information]
  • Terhal, P., Nievelstein, R., Verver, E., Topsakal, V., Dommelen, P., Hoornaert, K., Le Merrer, M., Zankl, A., Simon, M., Smithson, S., et al (2015). A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. American Journal of Medical Genetics, Part A, 167A (3), 461-475. [More Information]
  • Groza, T., Koehler, S., Doelken, S., Collier, N., Oellrich, A., Smedley, D., Couto, F., Baynam, G., Zankl, A., Robinson, P. (2015). Automatic concept recognition using the human phenotype ontology reference and test suite corpora. Database: the journal of biological databases and curation, 2015, 1-13. [More Information]
  • Groza, T., Tudorache, T., Robinson, P., Zankl, A. (2015). Capturing domain knowledge from multiple sources: the rare bone disorders use case. Journal of Biomedical Semantics, 6(21), 1-15. [More Information]
  • McInerney-Leo, A., Duncan, E., Leo, P., Gardiner, B., Bradbury, L., Harris, J., Clark, G., Brown, M., Zankl, A. (2015). COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? Clinical Genetics, 88(1), 49-55. [More Information]
  • McInerney-Leo, A., Sparrow, D., Harris, J., Gardiner, B., Marshall, M., O'Reilly, V., Shi, H., Brown, M., Leo, P., Zankl, A., et al (2015). Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Human Molecular Genetics, 24(5), 1234-1242. [More Information]
  • Baynam, G., Walters, M., Claes, P., Kung, S., LeSouef, P., Dawkins, H., Bellgard, M., Girdea, M., Brudno, M., Robinson, P., Zankl, A., et al (2015). Phenotyping: Targeting genotype's rich cousin for diagnosis. Journal of Paediatrics and Child Health, 51(4), 381-386. [More Information]
  • Groza, T., Koehler, S., Moldenhauer, D., Vasilevsky, N., Baynam, G., Zemojtel, T., Schriml, L., Kibbe, W., Schofield, P., Beck, T., Zankl, A., et al (2015). The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease. The American Journal of Human Genetics, 97(1), 111-124. [More Information]
  • McInerney-Leo, A., Harris, J., Leo, P., Marshall, M., Gardiner, B., Kinning, E., Leong, H., McKenzie, F., Ong, W., Vodopiutz, J., Zankl, A., et al (2015). Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. Clinical Genetics, 88(6), 550-557. [More Information]
  • Piras, R., Chiappe, F., La Torraca, I., Buers, I., Gianluca, U., Angius, A., Akin, M., Basel-Vanagaite, L., Benedicenti, F., Chiodin, E., Zankl, A., et al (2014). Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome. Human Mutation, 35(4), 424-433. [More Information]
  • Lazarus, S., Zankl, A., Duncan, E. (2014). Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery. Osteoporosis International, 25(2), 407-422. [More Information]
  • Ireland, P., Pacey, V., Zankl, A., Edwards, P., Johnston, L., Savarirayan, R. (2014). Optimal management of complications associated with achondroplasia. The Application of Clinical Genetics, 7, 117-125. [More Information]
  • Groza, T., Hunter, J., Zankl, A. (2013). Decomposing phenotype descriptions for the human skeletal phenome. Biomedical Informatics Insights, 6, 1-14. [More Information]
  • Halbritter, J., Bizet, A., Schmidts, M., Porath, J., Braun, D., Yung Gee, H., McInerney-Leo, A., Krug, P., Filhol, E., Davis, E., Zankl, A., et al (2013). Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. The American Journal of Human Genetics, 93(5), 915-925. [More Information]
  • Oetting, W., Robinson, P., Greenblatt, M., Cotton, R., Beck, T., Carey, J., Doelken, S., Girdea, M., Groza, T., Hamilton, C., et al (2013). Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project. Human Mutation, 34(4), 661-666. [More Information]
  • Groza, T., Hunter, J., Zankl, A. (2013). Mining Skeletal Phenotype Descriptions from Scientific Literature. PloS One, 8(2), 1-8. [More Information]
  • Schmidts, M., Vodopiutz, J., Christou-Savina, S., Cortes, C., McInerney-Leo, A., Emes, R., Arts, H., Tuysuz, B., D’Silva, J., Zankl, A., et al (2013). Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy. The American Journal of Human Genetics, 93(5), 932-944. [More Information]
  • McInerney-Leo, A., Schmidts, M., Cortes, C., Leo, P., Gener, B., Courtney, A., Gardiner, B., Harris, J., Lu, Y., Marshall, M., et al (2013). Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60. The American Journal of Human Genetics, 93(3), 515-523. [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]
  • Temtamy, S., Ismail, A., Aglan, M., Ashour, A., Hosny, L., El-Badry, T., Aboul-Ezz, E., Amr, K., Fateen, E., Maquire, T., et al (2012). A report of three patients with MMP2 associated hereditary osteolysis. Genetic Counseling, 23(2), 175. [More Information]
  • Paul, R., Groza, T., Hunter, J., Zankl, A. (2012). Decision Support Methods for Finding Phenotype - Disorder Associations in the Bone Dysplasia Domain. PloS One, 7(11), 1-10. [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]
  • 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]
  • Zankl, A., Duncan, E., Leo, P., Clark, G., Glazov, E., Addor, M., Herlin, T., Kim, C., Leheup, B., McGill, J., et al (2012). Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. The American Journal of Human Genetics, 90(3), 494-501. [More Information]
  • Terhal, P., Dommelen, P., LeMerrer, M., Zankl, A., Simon, M., Smithson, S., Marcelis, C., Kerr, B., Kinning, E., Mansour, S., et al (2012). Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 160C (3), 205-216. [More Information]
  • Jackson, G., Mittaz-Crettol, L., Taylor, J., Mortier, G., Spranger, J., Zabel, B., Le Merrer, M., Cormier-Daire, V., Hall, C., Offiah, A., et al (2012). Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Human Mutation, 33(1), 144-157. [More Information]
  • Groza, T., Hunter, J., Zankl, A. (2012). Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods. BMC Bioinformatics, 13(1), 1-10. [More Information]
  • Groza, T., Hunter, J., Zankl, A. (2012). The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain. BMC Bioinformatics, 13(1), 1-13. [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]
  • Lechner, S., Ruemmele, F., Zankl, A., Lausch, E., Huber, W., Mihatsch, W., Phillips, A., Lewindon, P., Querfeld, U., Heinz-Erian, P., et al (2011). Significance of molecular testing for congenital chloride diarrhea. Journal of Pediatric Gastroenterology and Nutrition, 53(1), 48-54. [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), A37-1-A37-8. [More Information]
  • Glazov, E., Zankl, A., Donskoi, M., Kenna, T., Thomas, G., Clark, G., Duncan, E., Brown, M. (2011). Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLoS Genetics, 7(3), 1-7. [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]
  • Kamien, B., Zankl, A., Gabbett, M. (2010). Septo-optic dysplasia and associations with amyoplasia and gastroschisis. Birth Defects Research. Part A: Clinical and Molecular Teratology, 88(6), 497-501. [More Information]
  • Lemke, J., Beck-Wodl, S., Zankl, A., Riegel, M., Kramer, G., Dorn, T. (2009). Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence? Seizure, 18(9), 660-663. [More Information]
  • Simon-Bouy, B., Taillandier, A., Fauvert, D., Brun-Heath, I., Serre, J., Armengod, C., Bialer, M., Mathieu, M., Cousin, J., Chitayat, D., et al (2008). Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. Prenatal diagnosis, 28(11), 993-998. [More Information]
  • Zankl, A., Elakis, G., Susman, R., Inglis, G., Gardener, G., Buckley, M., Roscioli, T. (2008). Prenatal and Postnatal Presentation of Severe Achondroplasia With Developmental Delay and Acanthosis Nigricans (SADDAN) Due to the FGFR3 Lys650Met Mutation. American Journal of Medical Genetics, Part A, 146A (2), 212-218. [More Information]
  • Conwell, L., Hermanns, P., Zankl, A. (2008). Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. Journal Of Pediatric Endocrinology and Metabolism, 21(3), 209-211. [More Information]
  • Zankl, A., Mornet, E., Wong, S. (2008). Specific ultrasonographic features of perinatal lethal hypophosphatasia. American Journal of Medical Genetics, Part A, 146A (9), 1200-1204. [More Information]
  • Fukuda, T., Civic, N., Furuichi, T., Shimoda, S., Mishima, K., Higashiyama, H., Idaira, Y., Asada, Y., Kitamura, H., Yamasaki, S., et al (2008). The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PloS One, 3(11), e3642-e3642. [More Information]
  • Rice, G., Patrick, T., Parmar, R., Taylor, C., Aeby, A., Aicardi, J., Artuch, R., Montalto, S., Bacino, C., Barroso, B., et al (2007). Clinical and molecular phenotype of Aicardi-Goutieres syndrome. The American Journal of Human Genetics, 81(4), 713-725. [More Information]
  • Zankl, A., Jackson, G., Crettol, L., Taylor, J., Elles, R., Mortier, G., Spranger, J., Zabel, B., Unger, S., Le Merrer, M., et al (2007). Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. European Journal of Human Genetics, 15(2), 150-154. [More Information]
  • Zankl, A., Pachman, L., Poznanski, A., Bonafe, L., Wang, F., Shusterman, Y., Fishman, D., Superti-Furga, A. (2007). Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. Journal of Bone and Mineral Research, 22(2), 329-333. [More Information]

Conferences

  • Groza, T., Zankl, A., Hunter, J. (2012). Experiences with modeling composite phenotypes in the SKELETOME project. The SemanticWeb- ISWC 2012 11th International SemanticWeb Conference, Berlin: Springer. [More Information]
  • Paul, R., Groza, T., Zankl, A., Hunter, J. (2012). Semantic Similarity-Driven Decision Support in the Skeletal Dysplasia Domain. The SemanticWeb- ISWC 2012 11th International SemanticWeb Conference, Berlin: Springer. [More Information]
  • Groza, T., Zankl, A., Li, Y., Hunter, J. (2011). Using Semantic Web Technologies to Build a Community-Driven Knowledge Curation Platform for the Skeletal Dysplasia Domain. The SemanticWeb- ISWC 2011 10th International SemanticWeb Conference, Berlin: Springer.
  • Wyeld, T., Zankl, A. (2008). 3D Visualisation of the Radiological Features of Type II Collagenopathies associated with Skeletal Dysplasias. Fifth International Conference BioMedical Visualization: Information Visualization in Medical and Biomedical Informatics, Piscataway, NJ, USA: IEEE Computer Society.
  • Jakobsen, I., Wyeld, T., Hansen, D., Zankl, A. (2007). Visualising A Skeletal Dysplasia Knowledgebase. 4th International Conference Medical Information Visualisation- BioMedical Visualisation- MediViz 2007, Los Alamitos: IEEE Computer Society.

2017

  • 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. [More Information]
  • 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. [More Information]

2016

  • 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. [More Information]
  • McInerney-Leo, A., Le Goff, C., Leo, P., Kenna, T., Keith, P., Harris, J., Steer, R., Bole-Feysot, C., Nitschke, P., Zankl, A., et al (2016). Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. Journal of Medical Genetics, 53(7), 457-464. [More Information]

2015

  • Terhal, P., Nievelstein, R., Verver, E., Topsakal, V., Dommelen, P., Hoornaert, K., Le Merrer, M., Zankl, A., Simon, M., Smithson, S., et al (2015). A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. American Journal of Medical Genetics, Part A, 167A (3), 461-475. [More Information]
  • Groza, T., Koehler, S., Doelken, S., Collier, N., Oellrich, A., Smedley, D., Couto, F., Baynam, G., Zankl, A., Robinson, P. (2015). Automatic concept recognition using the human phenotype ontology reference and test suite corpora. Database: the journal of biological databases and curation, 2015, 1-13. [More Information]
  • Groza, T., Tudorache, T., Robinson, P., Zankl, A. (2015). Capturing domain knowledge from multiple sources: the rare bone disorders use case. Journal of Biomedical Semantics, 6(21), 1-15. [More Information]
  • McInerney-Leo, A., Duncan, E., Leo, P., Gardiner, B., Bradbury, L., Harris, J., Clark, G., Brown, M., Zankl, A. (2015). COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? Clinical Genetics, 88(1), 49-55. [More Information]
  • McInerney-Leo, A., Sparrow, D., Harris, J., Gardiner, B., Marshall, M., O'Reilly, V., Shi, H., Brown, M., Leo, P., Zankl, A., et al (2015). Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Human Molecular Genetics, 24(5), 1234-1242. [More Information]
  • Baynam, G., Walters, M., Claes, P., Kung, S., LeSouef, P., Dawkins, H., Bellgard, M., Girdea, M., Brudno, M., Robinson, P., Zankl, A., et al (2015). Phenotyping: Targeting genotype's rich cousin for diagnosis. Journal of Paediatrics and Child Health, 51(4), 381-386. [More Information]
  • Groza, T., Koehler, S., Moldenhauer, D., Vasilevsky, N., Baynam, G., Zemojtel, T., Schriml, L., Kibbe, W., Schofield, P., Beck, T., Zankl, A., et al (2015). The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease. The American Journal of Human Genetics, 97(1), 111-124. [More Information]
  • McInerney-Leo, A., Harris, J., Leo, P., Marshall, M., Gardiner, B., Kinning, E., Leong, H., McKenzie, F., Ong, W., Vodopiutz, J., Zankl, A., et al (2015). Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. Clinical Genetics, 88(6), 550-557. [More Information]

2014

  • Piras, R., Chiappe, F., La Torraca, I., Buers, I., Gianluca, U., Angius, A., Akin, M., Basel-Vanagaite, L., Benedicenti, F., Chiodin, E., Zankl, A., et al (2014). Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome. Human Mutation, 35(4), 424-433. [More Information]
  • Lazarus, S., Zankl, A., Duncan, E. (2014). Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery. Osteoporosis International, 25(2), 407-422. [More Information]
  • Ireland, P., Pacey, V., Zankl, A., Edwards, P., Johnston, L., Savarirayan, R. (2014). Optimal management of complications associated with achondroplasia. The Application of Clinical Genetics, 7, 117-125. [More Information]

2013

  • Groza, T., Hunter, J., Zankl, A. (2013). Decomposing phenotype descriptions for the human skeletal phenome. Biomedical Informatics Insights, 6, 1-14. [More Information]
  • Halbritter, J., Bizet, A., Schmidts, M., Porath, J., Braun, D., Yung Gee, H., McInerney-Leo, A., Krug, P., Filhol, E., Davis, E., Zankl, A., et al (2013). Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. The American Journal of Human Genetics, 93(5), 915-925. [More Information]
  • Oetting, W., Robinson, P., Greenblatt, M., Cotton, R., Beck, T., Carey, J., Doelken, S., Girdea, M., Groza, T., Hamilton, C., et al (2013). Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project. Human Mutation, 34(4), 661-666. [More Information]
  • Groza, T., Hunter, J., Zankl, A. (2013). Mining Skeletal Phenotype Descriptions from Scientific Literature. PloS One, 8(2), 1-8. [More Information]
  • Schmidts, M., Vodopiutz, J., Christou-Savina, S., Cortes, C., McInerney-Leo, A., Emes, R., Arts, H., Tuysuz, B., D’Silva, J., Zankl, A., et al (2013). Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy. The American Journal of Human Genetics, 93(5), 932-944. [More Information]
  • McInerney-Leo, A., Schmidts, M., Cortes, C., Leo, P., Gener, B., Courtney, A., Gardiner, B., Harris, J., Lu, Y., Marshall, M., et al (2013). Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60. The American Journal of Human Genetics, 93(3), 515-523. [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

  • Temtamy, S., Ismail, A., Aglan, M., Ashour, A., Hosny, L., El-Badry, T., Aboul-Ezz, E., Amr, K., Fateen, E., Maquire, T., et al (2012). A report of three patients with MMP2 associated hereditary osteolysis. Genetic Counseling, 23(2), 175. [More Information]
  • Paul, R., Groza, T., Hunter, J., Zankl, A. (2012). Decision Support Methods for Finding Phenotype - Disorder Associations in the Bone Dysplasia Domain. PloS One, 7(11), 1-10. [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]
  • Groza, T., Zankl, A., Hunter, J. (2012). Experiences with modeling composite phenotypes in the SKELETOME project. The SemanticWeb- ISWC 2012 11th International SemanticWeb Conference, Berlin: Springer. [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]
  • Zankl, A., Duncan, E., Leo, P., Clark, G., Glazov, E., Addor, M., Herlin, T., Kim, C., Leheup, B., McGill, J., et al (2012). Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. The American Journal of Human Genetics, 90(3), 494-501. [More Information]
  • Terhal, P., Dommelen, P., LeMerrer, M., Zankl, A., Simon, M., Smithson, S., Marcelis, C., Kerr, B., Kinning, E., Mansour, S., et al (2012). Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 160C (3), 205-216. [More Information]
  • Jackson, G., Mittaz-Crettol, L., Taylor, J., Mortier, G., Spranger, J., Zabel, B., Le Merrer, M., Cormier-Daire, V., Hall, C., Offiah, A., et al (2012). Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Human Mutation, 33(1), 144-157. [More Information]
  • Paul, R., Groza, T., Zankl, A., Hunter, J. (2012). Semantic Similarity-Driven Decision Support in the Skeletal Dysplasia Domain. The SemanticWeb- ISWC 2012 11th International SemanticWeb Conference, Berlin: Springer. [More Information]
  • Groza, T., Hunter, J., Zankl, A. (2012). Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods. BMC Bioinformatics, 13(1), 1-10. [More Information]
  • Groza, T., Hunter, J., Zankl, A. (2012). The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain. BMC Bioinformatics, 13(1), 1-13. [More Information]

2011

  • 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]
  • Lechner, S., Ruemmele, F., Zankl, A., Lausch, E., Huber, W., Mihatsch, W., Phillips, A., Lewindon, P., Querfeld, U., Heinz-Erian, P., et al (2011). Significance of molecular testing for congenital chloride diarrhea. Journal of Pediatric Gastroenterology and Nutrition, 53(1), 48-54. [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), A37-1-A37-8. [More Information]
  • Groza, T., Zankl, A., Li, Y., Hunter, J. (2011). Using Semantic Web Technologies to Build a Community-Driven Knowledge Curation Platform for the Skeletal Dysplasia Domain. The SemanticWeb- ISWC 2011 10th International SemanticWeb Conference, Berlin: Springer.
  • Glazov, E., Zankl, A., Donskoi, M., Kenna, T., Thomas, G., Clark, G., Duncan, E., Brown, M. (2011). Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLoS Genetics, 7(3), 1-7. [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]
  • Kamien, B., Zankl, A., Gabbett, M. (2010). Septo-optic dysplasia and associations with amyoplasia and gastroschisis. Birth Defects Research. Part A: Clinical and Molecular Teratology, 88(6), 497-501. [More Information]

2009

  • Lemke, J., Beck-Wodl, S., Zankl, A., Riegel, M., Kramer, G., Dorn, T. (2009). Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))--causal relationship or coincidence? Seizure, 18(9), 660-663. [More Information]

2008

  • Wyeld, T., Zankl, A. (2008). 3D Visualisation of the Radiological Features of Type II Collagenopathies associated with Skeletal Dysplasias. Fifth International Conference BioMedical Visualization: Information Visualization in Medical and Biomedical Informatics, Piscataway, NJ, USA: IEEE Computer Society.
  • Simon-Bouy, B., Taillandier, A., Fauvert, D., Brun-Heath, I., Serre, J., Armengod, C., Bialer, M., Mathieu, M., Cousin, J., Chitayat, D., et al (2008). Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. Prenatal diagnosis, 28(11), 993-998. [More Information]
  • Zankl, A., Elakis, G., Susman, R., Inglis, G., Gardener, G., Buckley, M., Roscioli, T. (2008). Prenatal and Postnatal Presentation of Severe Achondroplasia With Developmental Delay and Acanthosis Nigricans (SADDAN) Due to the FGFR3 Lys650Met Mutation. American Journal of Medical Genetics, Part A, 146A (2), 212-218. [More Information]
  • Conwell, L., Hermanns, P., Zankl, A. (2008). Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. Journal Of Pediatric Endocrinology and Metabolism, 21(3), 209-211. [More Information]
  • Zankl, A., Mornet, E., Wong, S. (2008). Specific ultrasonographic features of perinatal lethal hypophosphatasia. American Journal of Medical Genetics, Part A, 146A (9), 1200-1204. [More Information]
  • Fukuda, T., Civic, N., Furuichi, T., Shimoda, S., Mishima, K., Higashiyama, H., Idaira, Y., Asada, Y., Kitamura, H., Yamasaki, S., et al (2008). The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PloS One, 3(11), e3642-e3642. [More Information]

2007

  • Rice, G., Patrick, T., Parmar, R., Taylor, C., Aeby, A., Aicardi, J., Artuch, R., Montalto, S., Bacino, C., Barroso, B., et al (2007). Clinical and molecular phenotype of Aicardi-Goutieres syndrome. The American Journal of Human Genetics, 81(4), 713-725. [More Information]
  • Zankl, A., Jackson, G., Crettol, L., Taylor, J., Elles, R., Mortier, G., Spranger, J., Zabel, B., Unger, S., Le Merrer, M., et al (2007). Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. European Journal of Human Genetics, 15(2), 150-154. [More Information]
  • Zankl, A., Pachman, L., Poznanski, A., Bonafe, L., Wang, F., Shusterman, Y., Fishman, D., Superti-Furga, A. (2007). Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. Journal of Bone and Mineral Research, 22(2), 329-333. [More Information]
  • Jakobsen, I., Wyeld, T., Hansen, D., Zankl, A. (2007). Visualising A Skeletal Dysplasia Knowledgebase. 4th International Conference Medical Information Visualisation- BioMedical Visualisation- MediViz 2007, Los Alamitos: IEEE Computer Society.

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