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Author Details
Full Name
Antonio Rueda Martin
Affiliation
Queen Mary University of London
ORCID
Career Start Year
2017
Papers
4
H Index
4
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
34758253
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
2021
31676867
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Nat Genet
2019
29691228
The 100â¿¿000 Genomes Project: bringing whole genome sequencing to the NHS.
BMJ
2018
28253385
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
JAMA Ophthalmol
2017
1 - 4 of 4
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