Corpus 1,272 assessed · 1,173 scored · 643 reproduced ≥75 · 168 flagged ·∅ 74.1/100

Publications 2 Datasets 392.5k Experiments 4.7k

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Filters: University Medical Center Hamburg-Eppendorf ✕ Reproducible only ✕ exome sequencing (es) ✕ clear all

2 matching publication(s)

Publication	Journal	Year	Score	Verdict
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis PMID 40963120	Genome Medicine	2025	88	L1 88/100
Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage. ⚑ PMID 32367296	—	2020	78	78/100 ⚑

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

PMID 40963120 · Genome Medicine · 2025

L1 88/100

Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.⚑

PMID 32367296 · · 2020

78/100 ⚑