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Andreas Zankl | Researchclopedia

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Andreas Zankl

The University of Sydney ORCID

132

Works

5,670

Citations

36

h-index

74

i10-index

Research Topics

Connective tissue disorders research Genomics and Rare Diseases Biomedical Text Mining and Ontologies

Affiliations

The University of Sydney2013–2025

European Bioinformatics Institute2015–2015

Translational Research Institute2013–2014

Royal Children's Hospital2006–2008

Garvan Institute of Medical Research2015–2024

Top Works

The Human Phenotype Ontology in 2017

Sebastian Köhler,Nicole Vasilevsky,et al.

2016796 citations

Bone health and treatments

Genetic and Kidney Cyst Diseases

The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways

Toshiyuki Fukada,Natacha Civic,et al.

2008289 citations

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

Tudor Groza,Sebastian Köhler,et al.

2015240 citations

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Jan Halbritter,Albane A. Bizet,et al.

2013226 citations

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in <i>PLOD2</i>

Russia Hà-Vinh Leuchter,Yasemin Alanay,et al.

2004177 citations

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

Aideen McInerney‐Leo,Miriam Schmidts,et al.

2013131 citations

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

Gail C. Jackson,Lauréane Mittaz‐Crettol,et al.

2011127 citations

Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years

Andreas Zankl,Lukas Eberle,et al.

2002122 citations

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

Miriam Schmidts,Julia Vodopiutz,et al.

2013122 citations