Stefan Aretz

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 · 103 citations · Full text

Life Sciences, Bioinformatics, Biomedical Informatics +15

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Carles Hernandéz-Ferrer, Davide Piscia, Enzo Cohen et al. · European Journal of Human Genetics · 2021 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Planning the Human Variome Project: The Spain report

Jim Kaput, Richard G.H. Cotton, L Hardman et al. · Human Mutation · 2009 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Steven Laurie, Kiran Polavarapu, Nika Schuermans et al. · Nature Medicine · 2025 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldız, Erdi Küçük, Juliet E. Hampstead et al. · Human Genomics · 2023 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17