Area of research
Genetics · Cellular and Molecular Neuroscience
Research interest
Research focused on Exome sequencing and Rare disease, with related work in Disease, Indel, Clinical trial. Notable publications include 'Recommendations for whole genome sequencing in diagnostics for rare diseases', 'Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases', and 'Rare disease education in Europe and beyond: time to act'.
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design
Added Value of a Mental Health Specialist for Evaluation of Undiagnosed Patients in Centres for Rare Diseases – The ZSE-DUO Cohort Study
Recommendations for whole genome sequencing in diagnostics for rare diseases
Rare disease education in Europe and beyond: time to act
Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective
Consent Modules for Data Sharing via the German Human Genome-Phenome Archive (GHGA)
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
The European Reference Network for Rare Neurological Diseases
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint