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Journal of Medical Case Reports|March 28, 2024
Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case reportSissel Holme, Richard van Wijk, Andreas Ørslev Rasmussen, et al.Hemoglobin|July 9, 2024
A Rare Case of De Novo Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish NewbornStefni Ravichandran, Marianne Hoffmann, Jesper Petersen, et al.Familial Cancer|November 15, 2024
Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndromeHeidi Hesselø Brinch, Anna Byrjalsen, Zuzana Lohse, et al.Haemophilia : the Official Journal of the World Federation of Hemophilia|September 23, 2024
Low vitamin C status and hypermobility-related disorders in patients with bleeding disorder of unknown causeEva Leinøe, Halla Fridriksdottir, Andreas Ørslev Rasmussen, et al.Journal of Thrombosis and Haemostasis : JTH|August 1, 2021
The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in DenmarkEva Leinøe, Nanna Brøns, Andreas Ørslev Rasmussen, et al.Clinical Genetics|January 10, 2025
A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and PolypsKatrine M Johannesen, John Gásdal Karstensen, Andreas Ørslev Rasmussen, et al.American Journal of Medical Genetics. Part A|December 3, 2025
Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic DiagnosticsEileen Wedge, Andreas Ørslev Rasmussen, Line Borgwardt, et al.Orphanet Journal of Rare Diseases|July 31, 2024
DAHEAN: A Danish nationwide study ensuring quality assurance through real-world data for suspected hereditary anemia patientsAndreas Glenthøj, Andreas Ørslev Rasmussen, Selma Kofoed Bendtsen, et al.Pageof 1