Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics is a research paper published in JCI Insight (2024). On theSindex it has a DataRank of 0. It has been cited 10 times.
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National eye ins
Grant: K08 EY033789
Alcon Research Institute
Grant: Young Investigator Grant Award
Foundation Fighting Blindness
Grant: CD-CL-0823-0867-UWA
Sinskey Foundation
Grant: Grant Award
The Latham Foundation
Grant: Vision Innovation Award
NEI NIH HHS
Grant: P30 EY014104
NEI NIH HHS
Grant: R01 EY034364
NHGRI NIH HHS
Grant: U24 HG011746
NEI NIH HHS
Grant: P30 EY001730
NEI NIH HHS
Grant: R21 EY033174
National Institutes of Health
Grant: 5R01EY034364-03
Metabolic dysfunction from ECM remodeling in diseases of human RPE
National Institutes of Health
Grant: 5P30EY001730-43
Vision Research Core
National Institutes of Health
Grant: 1U24HG011746-01
University of Washington (UW) Mendelian Genomics Data Coordinating Center
National Institutes of Health
Grant: 5R21EY033174-02
Molecular determinants of pathogenicity in viral conjunctivitis
National Institutes of Health
Grant: 1P30EY014104-01
CORE--CLINICAL INTERFACE
National Institutes of Health
Grant: 5K08EY033789-02
The role of non-coding variants in Usher disease
FWCI
4.23
Citation Percentile
0.9%
Influential Citations
1
Citation Trend
Fields of Study
MeSH Terms
Keywords
Sustainable Development Goals