Professor Andreas Zankl

Honorary Research Fellow: Bone Biology Lab

Selected Publications

See all publications

2023
BMC musculoskeletal disorders10.1186/s12891-023-06691-5
Investigation of a family affected by early-onset osteoarthritis - proposal of a clinical pathway and bioinformatics pipeline for the investigation of cases of familial OA.
Leticia A Deveza, Andreas Zankl, David J Hunter
2021
Genome medicine10.1186/s13073-021-00841-x
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.
Andre E Minoche, Ben Lundie, Greg B Peters, Thomas Ohnesorg, Mark Pinese, David M Thomas, Andreas Zankl, Tony Roscioli, Nicole Schonrock, Sarah Kummerfeld, Leslie Burnett, Marcel E Dinger, Mark J Cowley
2021
Molecular genetics and metabolism10.1016/j.ymgme.2021.01.009
Utility of genetic testing for prenatal presentations of hypophosphatasia.
Brian Sperelakis-Beedham, Agnès Taillandier, Christelle Domingues, Mihelaiti Guberto, Estelle Colin, Valérie Porquet-Bordes, Anya Rothenbuhler, Jean-Pierre Salles, Deborah Wenkert, Andreas Zankl, Christine Muti, Séverine Bacrot, Brigitte Simon-Bouy, Etienne Mornet
2019
American journal of medical genetics. Part A10.1002/ajmg.a.61268
Optic disc swelling in acromicric and geleophysic dysplasia.
Lip Hen Moey, Maree Flaherty, Andreas Zankl
2019
American journal of human genetics10.1016/j.ajhg.2019.03.006
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Hilde Van Esch, Rita Colnaghi, Kathleen Freson, Petro Starokadomskyy, Andreas Zankl, Liesbeth Backx, Iga Abramowicz, Emily Outwin, Luis Rohena, Claire Faulkner, Gary M Leong, Ruth A Newbury-Ecob, Rachel C Challis, Katrin Õunap, Jacques Jaeken, Eve Seuntjens, Koen Devriendt, Ezra Burstein, Karen J Low, Mark O'Driscoll

See all Garvan publications

Explore our research

Our impact

Our people

News and resources

About us

Support Us

Professor Andreas Zankl

Selected Publications

Investigation of a family affected by early-onset osteoarthritis - proposal of a clinical pathway and bioinformatics pipeline for the investigation of cases of familial OA.

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

Utility of genetic testing for prenatal presentations of hypophosphatasia.

Optic disc swelling in acromicric and geleophysic dysplasia.

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.