Rebeka Luknárová
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Rebeka Luknárová has a total of 71 co-authors. Here are the top co-authors by number of shared publications:
- Alexander Hoischen
Department of Human Genetics and Research Institute for Medical Innovation, Radboud university medical center, Nijmegen, The Netherlands
2 shared publications Ana Töpf
John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
2 shared publications- Andrés Caballero-Oteyza
Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Albert-Ludwigs-University of Freiburg 2 Faculty of Medicine Freiburg
2 shared publications - Anna Esteve-Codina
Centro Nacional de Analisis Genomico (CNAG)
2 shared publications - Anne-Sophie Denommé-Pichon
Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France
2 shared publications - Antonio Vitobello
INSERM, CTM UMR1231, équipe GAD, FHU TRANSLAD, Laboratoire de Génomique Médicale Université Bourgogne Europe, CHU Dijon Bourgogne Dijon France
2 shared publications
Latest Publications
- Open Access
- 6 January 2026
- Published by Springer Nature in Nature Genetics
- Vol. 58 (1) , 231
Author Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
- 6 January 2026
- Published by Springer Nature in Nature Genetics
- Vol. 58 (1) , 231
Open AccessAuthor Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
- 9 September 2025
- Published by Springer Nature in Nature Genetics
- Vol. 57 (10) , 2361-2370
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Despite advances in genomic diagnostics, the majority of individuals with rare diseases remain without a confirmed genetic diagnosis. The rapid emergence of advanced omics technologies, such as long-read genome sequencing, optical genome mapping and multiomic profiling, has improved diagnostic yield but also substantially increased analytical and interpretational complexity. Addressing this complexity requires systematic multidisciplinary collaboration, as recently demonstrated by targeted diagnostic workshops. Here, we highlight the experience of the Solve-RD consortium, a pan-European initiative, in implementing four structured workshops, termed 'Solvathons', as a regular and effective component of its operational workflow. We provide actionable insights, best practices and lessons learned for successful data integration, expert training and scalable collaborative diagnostics within large research consortia.
- 9 September 2025
- Published by Springer Nature in Nature Genetics
- Vol. 57 (10) , 2361-2370
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Despite advances in genomic diagnostics, the majority of individuals with rare diseases remain without a confirmed genetic diagnosis. The rapid emergence of advanced omics technologies, such as long-read genome sequencing, optical genome mapping and multiomic profiling, has improved diagnostic yield but also substantially increased analytical and interpretational complexity. Addressing this complexity requires systematic multidisciplinary collaboration, as recently demonstrated by targeted diagnostic workshops. Here, we highlight the experience of the Solve-RD consortium, a pan-European initiative, in implementing four structured workshops, termed 'Solvathons', as a regular and effective component of its operational workflow. We provide actionable insights, best practices and lessons learned for successful data integration, expert training and scalable collaborative diagnostics within large research consortia.