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: Universität Hamburg ✕ Reproducible only ✕ exome sequencing ✕ clear all

2 matching publication(s)

Publication	Journal	Year	Score	Verdict
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
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. PMID 36414417	—	2023	85	L1 85/100

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

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.

PMID 36414417 · · 2023

L1 85/100