Key Publications

Groza T, Tudorache T, Robinson PN, Zankl A (2015) Capturing domain knowledge from multiple sources: the rare bone disorders use case. J Biomed Semantics 6:21

McInerney-Leo AM, Sparrow DB, Harris JE, Gardiner BB, Marshall MS, O'Reilly VC, Shi H, Brown MA, Leo PJ, Zankl A, Dunwoodie SL, Duncan EL (2015) Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Hum Mol Genet 24(5):1234-42

Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, 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. Am J Med Genet A 167A(3):461-75

Baynam G, Walters M, Claes P, Kung S, LeSouef P, Dawkins H, Bellgard M, Girdea M, Brudno M, Robinson P, Zankl A, Groza T, Gillett D, Goldblatt J. Phenotyping: targeting genotype's rich cousin for diagnosis. J Paediatr Child Health 51(4):381-6

McInerney-Leo AM, Marshall MS, Gardiner B, Coucke PJ, Van Laer L, Loeys BL, Summers KM, Symoens S, West JA, West MJ, Paul Wordsworth B, Zankl A, Leo PJ, Brown MA, Duncan EL (2013) Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. Bonekey Rep 2:456

Paul R, Groza T, Hunter J, Zankl A. (2014) Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain. J Biomed Semantics 5(1):8

Groza T, Hunter J, Zankl A (2013) Decomposing phenotype descriptions for the human skeletal phenome. Biomed Inform Insights 6:1-14

Ireland PJ, Ware RS, Donaghey S, McGill J, Zankl A, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S, Johnston LM. The effect of height, weight and head circumference on gross motor development in achondroplasia. J Paediatr Child Health 49(2):E122-7