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References from A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disorders. Local targets link to admitted publications; unresolved targets remain external evidence.
10.1016/j.tig.2014.07.001
10.1016/j.tig.2014.07.001 · External reference
10.3390/jcm9010132
10.3390/jcm9010132 · External reference
10.1177/1073110520916994
10.1177/1073110520916994 · External reference
Application of next generation sequencing in laboratory medicine
10.3343/alm.2021.41.1.25 · 2021 · External reference
10.1146/annurev-med-042921-110721
10.1146/annurev-med-042921-110721 · External reference
10.3390/genes11070747
10.3390/genes11070747 · External reference
Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool
10.1186/1471-2105-14-128 · 2013 · External reference
Enrichr: a comprehensive gene set enrichment analysis web server 2016 update
2016 · External reference
10.1002/cpz1.90
10.1002/cpz1.90 · External reference
The DisGeNET knowledge platform for disease genomics: 2019 update
2020 · External reference
CCEPAS: the creation and validation of a fast and sensitive clinical whole exome analysis pipeline based on gene and variant ranking
10.20517/jtgg.2017.05 · 2018 · External reference
Encoding clinical data with the human phenotype ontology for computational differential diagnostics
10.1002/cphg.92 · 2019 · External reference
10.1016/s1074-7613(00)80575-0
10.1016/s1074-7613(00)80575-0 · External reference
10.1038/ng.637
10.1038/ng.637 · External reference
10.1016/j.celrep.2018.02.048
10.1016/j.celrep.2018.02.048 · External reference
10.3390/cells11172630
10.3390/cells11172630 · External reference
NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome
10.1073/pnas.1222808110 · 2013 · External reference
Macroglobulinemia and autoinflammatory disease
2021 · External reference
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
10.1172/jci18937 · 2003 · External reference
B-lymphocyte depletion ameliorates Sjögren's syndrome in Id3 knockout mice
10.1111/j.1365-2567.2007.02614.x · 2007 · External reference
Acquired von Willebrand syndrome in a patient with multiple comorbidities, including MALT lymphoma with IgA monoclonal gammopathy and hyperviscosity syndrome
10.2169/internalmedicine.9815-22 · 2023 · External reference
10.3390/biology12070997
10.3390/biology12070997 · External reference
10.1038/gim.2015.137
10.1038/gim.2015.137 · External reference
Best practices for the interpretation and reporting of clinical genome sequencing
10.1016/j.gim.2022.01.587 · 2022 · External reference
10.1016/j.ajhg.2015.05.020
10.1016/j.ajhg.2015.05.020 · External reference
Unresolved reference
External reference
10.1038/nrg1826
10.1038/nrg1826 · External reference
10.1038/nrg910
10.1038/nrg910 · External reference
