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Nature Communications|March 29, 2019
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusionsMontse Olivé, Martin Engvall, Gianina Ravenscroft, et al.Genome Medicine|March 17, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patientsHenrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, et al.Journal of Internal Medicine|July 7, 2026
Genomic Medicine Sweden: Advancing precision medicine at the national levelAnders Edsjö, Anna Lindstrand, Panagiotis Baliakas, et al.Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathyAdam Jackson, Alexander J M Blakes, Bader Alhaddad, et al.Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.Genome Biology|March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A Brownstein, Alan H Beggs, Nils Homer, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2025
Data-driven consideration of genetic disorders for global genomic newborn screening programsThomas Minten, Sarah Bick, Sophia Adelson, et al.Pageof 11