Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
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Nature medicine - ISSN 1078-8956-31 (2025) p. 478-489
TBP repeat expansion analysis in patients carrying heterozygous STUB1 variants
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Movement disorders: video, videotape supplements - ISSN 0885-3185- (2025) p.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
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Npj genomic medicine - ISSN 2056-7944-9:1 (2024) p. 1-24
An interconnected data infrastructure to support large-scale rare disease research
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GigaScience - ISSN 2047-217X-13 (2024) p. 1-14