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Orphanet Journal of Rare Diseases|July 16, 2025
Artificial intelligence for diagnosing rare bone diseases: a global survey of healthcare professionalsBehnam Javanmardi, Rebekah L Waikel, Tinatin Tkemaladze, et al.Computational and Structural Biotechnology Journal|May 16, 2022
Reconstruction of the origin of the first major SARS-CoV-2 outbreak in GermanyMarek Korencak, Sugirthan Sivalingam, Anshupa Sahu, et al.Journal of Inherited Metabolic Disease|December 21, 2014
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disordersWolfgang Sperl, Leanne Fleuren, Peter Freisinger, et al.Frontiers in Genetics|December 11, 2023
Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan BiobankEmadeldin Hassanin, Ko-Han Lee, Tzung-Chien Hsieh, et al.American Journal of Human Genetics|November 13, 2012
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduriaKatharina Danhauser, Sven W Sauer, Tobias B Haack, et al.Neurogenetics|July 1, 2017
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutationMiryam Carecchio, Marina Picillo, Lorella Valletta, et al.Human Genetics|May 26, 2018
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomaliesDaniel Fritzen, Alma Kuechler, Mona Grimmel, et al.European Journal of Human Genetics : EJHG|October 9, 2014
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiencyMonika Oláhová, Tobias B Haack, Charlotte L Alston, et al.European Journal of Medical Genetics|August 29, 2020
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approachesSabine Illsinger, G Christoph Korenke, Sylvia Boesch, et al.American Journal of Human Genetics|November 15, 2016
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized DystoniaMichael Zech, Sylvia Boesch, Esther M Maier, et al.Pageof 39