Corpus 1,284 assessed · 1,185 scored · 647 reproduced ≥75 · 173 flagged ·∅ 73.9/100

Publications 2 Datasets 392.5k Experiments 5.7k

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2 matching publication(s)

Publication	Journal	Year	Score	Verdict
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection. PMID 41056017	—	2025	67	L1 67/100
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	87	L1 87/100

CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.

PMID 41056017 · · 2025

L1 67/100

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