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Andreas Zankl

University of Queensland
University of Sydney
Royal Brisbane and Women's Hospital

127

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3349

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ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.

2021 Genome Medicine
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Ontoclick: a web browser extension to facilitate biomedical knowledge curation.

2021 Bioinformatics
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Utility of genetic testing for prenatal presentations of hypophosphatasia.

2021 Molecular Genetics and Metabolism
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Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA

2020
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An activating variant in CTNNB1 is associated with a sclerosing bone dysplasia and adrenocortical neoplasia

2020 The Journal of Clinical Endocrinology and Metabolism
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ClinSV: Clinical grade structural and copy number variant detection from whole genome sequencing data

2020 medRxiv
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Optic disc swelling in acromicric and geleophysic dysplasia

2019 American Journal of Medical Genetics Part A
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Breaking TrustZone Memory Isolation through Malicious Hardware on a Modern FPGA-SoC

2019
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Undermining User Privacy on Mobile Devices Using AI.

2019 CCS | Computer and Communications Security
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Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism

2019 American Journal of Human Genetics
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