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

Publications 3 Datasets 392.5k Experiments 5.7k

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3 matching publication(s)

Publication	Journal	Year	Score	Verdict
Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome PMID 41729082	—	2026	89	L1 89/100
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis PMID 40963120	Genome Medicine	2025	88	L1 88/100
Pleiotropic effects of MORC2 derive from its epigenetic signature PMID 40302207	—	2025	—	L1 No data access

Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome

PMID 41729082 · · 2026

L1 89/100

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis

PMID 40963120 · Genome Medicine · 2025

L1 88/100

Pleiotropic effects of MORC2 derive from its epigenetic signature

PMID 40302207 · · 2025

L1 No data access