- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing2023 | Second Faculty of Medicine
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencingPublication without faculty affiliation
- Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2022 | Second Faculty of Medicine
- Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders2020 | Second Faculty of Medicine
- Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases2021 | Second Faculty of Medicine
- Solve-RD: the ITHACA perspectivePublication without faculty affiliation