Anastasios Papakonstantinou

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 100 citations · Full text

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Steven Laurie, Davide Piscia, Leslie Matalonga et al. · Human Mutation · 2022 · 60 citations · Full text

Accelerating Diagnosis, Engineering, Genetics +22

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

Leslie Matalonga, Steven Laurie, Anastasios Papakonstantinou et al. · Journal of Molecular Diagnostics · 2020 · 32 citations · Full text

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

Rachel Thompson, Anastasios Papakonstantinou, Sergi Beltrán et al. · Human Mutation · 2019 · 29 citations

Engineering, Exome Sequencing, Genetics +21

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Gemma Bullich, Leslie Matalonga, Montserrat Pujadas et al. · Journal of Molecular Diagnostics · 2022 · 27 citations · Full text