Professor Andreas Zankl
- 2023BMC 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.
- 2021Genome medicine10.1186/s13073-021-00841-x
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.
- 2021Molecular genetics and metabolism10.1016/j.ymgme.2021.01.009
Utility of genetic testing for prenatal presentations of hypophosphatasia.
- 2019American journal of medical genetics. Part A10.1002/ajmg.a.61268
Optic disc swelling in acromicric and geleophysic dysplasia.
- 2019American 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.