Research graph
References from Integrated Clinical-Genomic Reanalysis Identifies Diagnostic Gaps and Candidate Genes in a Pediatric Rare Disease Cohort. Local targets link to admitted publications; unresolved targets remain external evidence.
10.1038/s41431-019-0508-0
10.1038/s41431-019-0508-0 · External reference
The cost of the diagnostic odyssey of patients with suspected rare diseases
10.1186/s13023-025-03751-y · 2025 · External reference
10.1186/s13073-022-01026-w
10.1186/s13073-022-01026-w · External reference
10.1056/nejmoa2314761
10.1056/nejmoa2314761 · External reference
10.1016/j.ajhg.2023.06.009
10.1016/j.ajhg.2023.06.009 · External reference
Insurance denials and diagnostic rates in a pediatric genomic research cohort
10.1016/j.gim.2023.100020 · 2023 · External reference
Access to genetic testing for rare diseases: Existing gaps in public-facing information
10.1002/wmh3.469 · 2021 · External reference
10.1038/gim.2018.39
10.1038/gim.2018.39 · External reference
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
10.1016/j.jmoldx.2022.02.003 · 2022 · External reference
10.1038/s41431-021-00852-7
10.1038/s41431-021-00852-7 · External reference
10.1186/s13073-022-01019-9
10.1186/s13073-022-01019-9 · External reference
10.1038/ncomms15824
10.1038/ncomms15824 · External reference
10.21203/rs.2.19080/v1
10.21203/rs.2.19080/v1 · External reference
10.1038/nbt.1754
10.1038/nbt.1754 · External reference
10.1038/s41587-024-02299-x
10.1038/s41587-024-02299-x · External reference
10.1038/gim.2015.30
10.1038/gim.2015.30 · External reference
10.1093/bioinformatics/btp324
10.1093/bioinformatics/btp324 · External reference
10.1038/ng.3036
10.1038/ng.3036 · External reference
10.1002/humu.22844
10.1002/humu.22844 · External reference
10.1093/hmg/ddw245
10.1093/hmg/ddw245 · External reference
The human gene encoding acetylcholinesterase is located on the long arm of chromosome 7
1992 · External reference
Evidence that the antigens of the Yt blood group system are located on human erythrocyte acetylcholinesterase
10.1182/blood.v80.8.2136.2136 · 1992 · External reference
10.1242/dev.149831
10.1242/dev.149831 · External reference
10.1093/genetics/83.3.517
10.1093/genetics/83.3.517 · External reference
10.1038/nn788
10.1038/nn788 · External reference
10.1002/cne.901890409
10.1002/cne.901890409 · External reference
10.1016/s0091-3057(03)00022-4
10.1016/s0091-3057(03)00022-4 · External reference
Unresolved reference
External reference
10.1073/pnas.95.16.9654
10.1073/pnas.95.16.9654 · External reference
10.1146/annurev-med-042120-014904
10.1146/annurev-med-042120-014904 · External reference
A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases
10.1186/s13023-024-03423-3 · 2024 · External reference
10.1056/nejmoa1516767
10.1056/nejmoa1516767 · External reference
10.1038/gim.2018.33
10.1038/gim.2018.33 · External reference
