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Author Details
Full Name
Eleanor Dewhurst
Affiliation
University of Cambridge
ORCID
Career Start Year
2017
Papers
4
H Index
3
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
37541188
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
2023
34758253
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
2021
30526634
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
Genome Med
2018
28041643
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Am J Hum Genet
2017
1 - 4 of 4
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