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American Journal of Human Genetics|April 30, 2025
Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experienceThiloka Ratnaike, Ida Paramonov, Catarina Olimpio, et al.Journal of Community Genetics|March 19, 2021
Rare disease care pathways in the EU: from odysseys and labyrinths towards highwaysBirute Tumiene, Holm GraessnerBundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz|September 23, 2022
[Rare-disease data standards]Peter N Robinson, Holm GraessnerBundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz|September 28, 2022
[Healthcare networks for people with rare diseases: integrating data and expertise]Holm Graessner, Holger Storf, Franz SchaeferEuropean Journal of Human Genetics : EJHG|June 2, 2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.European Journal of Human Genetics : EJHG|June 2, 2021
Solving patients with rare diseases through programmatic reanalysis of genome-phenome dataLeslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, et al.Methods in Molecular Biology (Clifton, N.J.)|June 25, 2011
Cell-based reporter assay to analyze activation of Nod1 and Nod2Birte Zurek, Harald Bielig, Thomas A KuferEuropean Journal of Human Genetics : EJHG|November 5, 2023
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological reportDavid Lagorce, Emeline Lebreton, Leslie Matalonga, et al.Der Nervenarzt|June 28, 2019
[Model for personalized diagnostics and treatment in neurology-German Academy for Rare Neurological Diseases]Alexander Münchau, Ludger Schöls, Christine Klein, et al.Studies in Health Technology and Informatics|May 19, 2023
Local Data Quality Assessments on EHR-Based Real-World Data for Rare DiseasesKais Tahar, Raphael Verbuecheln, Tamara Martin, et al.Pageof 37