Andreas Zankl
The University of Sydney(AU)Children's Medical Research Institute(AU)Children's Hospital at Westmead(AU)Fraunhofer Institute for Applied and Integrated Security(DE)
Publications by Year
Research Areas
Connective tissue disorders research, Genomics and Rare Diseases, Biomedical Text Mining and Ontologies, Bone health and treatments, Genetic and Kidney Cyst Diseases
Most-Cited Works
- → The Human Phenotype Ontology in 2017(2016)796 cited
- → The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways(2008)289 cited
- → The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease(2015)240 cited
- → Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans(2013)226 cited
- → Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2(2004)177 cited
- → Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60(2013)131 cited