Corpus 1,272 assessed · 1,173 scored · 643 reproduced ≥75 · 168 flagged ·∅ 74.1/100
⌕
Publications 6 Datasets 392.5k Experiments 4.7k

Explore

← New search
Filters: University of Lübeck ✕ Reproducible only ✕ clear all
6 matching publication(s)
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis
PMID 40963120 · Genome Medicine · 2025
L1 88/100
Multi-omic identification of perineurial hyperplasia and lipid-associated nerve macrophages in human polyneuropathies.
PMID 40849297 · Nat Commun · 2025
L1 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
L1 76/100
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findi
PMID 39039281 · Nat Genet · 2024
L1 87/100
Predicting the pathogenicity of missense variants using features derived from AlphaFold2.
PMID 37084271 · Bioinformatics · 2023
L1 85/100
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
PMID 20890276 · · 2010
96/100