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3 matching publication(s)
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis
PMID 40963120 · Genome Medicine · 2025
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Multi-omic identification of perineurial hyperplasia and lipid-associated nerve macrophages in human polyneuropathies.
PMID 40849297 · Nat Commun · 2025
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90/100
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
PMID 40555819 · Nature Genetics (Author Correction 2025; orig 2024;56:1644) · 2025
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76/100