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References from GPCards: An integrated database of genotype–phenotype correlations in human genetic diseases. Local targets link to admitted publications; unresolved targets remain external evidence.
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10.1093/nar/gkz972
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10.1093/nar/gkw1012
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10.1093/nar/gkx1039
10.1093/nar/gkx1039 · External reference
10.1038/nature19057
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10.1002/humu.23925
10.1002/humu.23925 · External reference
10.1093/nar/gkw971
10.1093/nar/gkw971 · External reference
10.1038/nature11690
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Unresolved reference
External reference
10.1093/bioinformatics/btr540
10.1093/bioinformatics/btr540 · External reference
Performance evaluation of pathogenicity-computation methods for missense variants
10.1093/nar/gky678 · 2018 · External reference
10.1016/j.ajhg.2016.08.016
10.1016/j.ajhg.2016.08.016 · External reference
10.1093/nar/gkg509
10.1093/nar/gkg509 · External reference
10.1038/nprot.2015.123
10.1038/nprot.2015.123 · External reference
10.1038/nmeth0410-248
10.1038/nmeth0410-248 · External reference
10.1101/gr.092619.109
10.1101/gr.092619.109 · External reference
10.1038/nmeth0810-575
10.1038/nmeth0810-575 · External reference
10.1093/nar/gkr407
10.1093/nar/gkr407 · External reference
10.1002/humu.22225
10.1002/humu.22225 · External reference
10.1371/journal.pone.0046688
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10.1093/hmg/ddu733
10.1093/hmg/ddu733 · External reference
10.1038/ng.3703
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10.1038/ng.3196
10.1038/ng.3196 · External reference
10.1002/ana.23687
10.1002/ana.23687 · External reference
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10.1007/11732990_17 · 2006 · External reference
10.1101/gr.3715005
10.1101/gr.3715005 · External reference
10.1093/bioinformatics/btp190
10.1093/bioinformatics/btp190 · External reference
10.1016/j.ajhg.2017.01.004
10.1016/j.ajhg.2017.01.004 · External reference
10.1093/nar/gkw1121
10.1093/nar/gkw1121 · External reference
10.1038/nature08987
10.1038/nature08987 · External reference
10.1093/nar/gkw1107
10.1093/nar/gkw1107 · External reference
10.1093/nar/29.1.308
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Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans
2020 · External reference
10.1093/nar/gku1055
10.1093/nar/gku1055 · External reference
10.1093/nar/gkw1108
10.1093/nar/gkw1108 · External reference
10.1093/nar/gkw1039
10.1093/nar/gkw1039 · External reference
10.1371/journal.pgen.1005492
10.1371/journal.pgen.1005492 · External reference
10.1093/bioinformatics/btv602
10.1093/bioinformatics/btv602 · External reference
10.1038/ng.3511
10.1038/ng.3511 · External reference
10.1073/pnas.1518646112
10.1073/pnas.1518646112 · External reference
Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders
10.1038/s41467-018-04552-7 · 2018 · External reference
UniProt: the universal protein knowledgebase
10.1093/nar/gky092 · 2018 · External reference
10.1093/nar/gkp858
10.1093/nar/gkp858 · External reference
Mouse Genome Informatics (MGI): resources for mining mouse genetic, genomic, and biological data in support of primary and translational research
10.1007/978-1-4939-6427-7_3 · 2017 · External reference
10.1038/nature13185
10.1038/nature13185 · External reference
10.1089/bio.2015.29031.hmm
10.1089/bio.2015.29031.hmm · External reference
10.1126/science.1260419
10.1126/science.1260419 · External reference
10.1093/nar/gkx1143
10.1093/nar/gkx1143 · External reference
JAG1 mutation spectrum and origin in Chinese children with clinical features of Alagille syndrome
10.1371/journal.pone.0130355 · 2015 · External reference
A survey of locus-specific database curation. Human Genome Variation Society
10.1136/jmg.2006.044081 · 2007 · External reference
10.1038/mp.2015.40
10.1038/mp.2015.40 · External reference
10.1016/j.cell.2014.06.017
10.1016/j.cell.2014.06.017 · External reference
10.1007/s00439-013-1358-4
10.1007/s00439-013-1358-4 · External reference
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
10.1093/nar/gkt937 · 2014 · External reference
PhenoTips: patient phenotyping software for clinical and research use
10.1002/humu.22347 · 2013 · External reference
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data
10.1093/bioinformatics/btx147 · 2017 · External reference
10.1038/s41431-017-0085-z
10.1038/s41431-017-0085-z · External reference
Navigating the phenotype frontier: the Monarch initiative
10.1534/genetics.116.188870 · 2016 · External reference
A machine-compiled database of genome-wide association studies
10.1038/s41467-019-11026-x · 2019 · External reference
GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies
10.1038/ejhg.2013.274 · 2014 · External reference
10.1093/nar/gkt1229
10.1093/nar/gkt1229 · External reference
10.1093/nar/gky1120
10.1093/nar/gky1120 · External reference
10.1093/bioinformatics/btz469
10.1093/bioinformatics/btz469 · External reference
10.1093/bioinformatics/btu273
10.1093/bioinformatics/btu273 · External reference
Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time
10.1038/s41436-020-0900-8 · 2020 · External reference
