Contact and support
Need help, have a question, or want to contact the ResearchHub team?
© 2026 ResearchHub. Built for responsible scholarly connection.
Privacy-aware community infrastructureResearch graph
References from Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology. Local targets link to admitted publications; unresolved targets remain external evidence.
10.1056/nejmoa2209046
10.1056/nejmoa2209046 · External reference
Unresolved reference
External reference
10.1056/nejmoa2314761
10.1056/nejmoa2314761 · External reference
10.1101/2023.08.02.23293212
10.1101/2023.08.02.23293212 · External reference
10.1038/nrg.2016.162
10.1038/nrg.2016.162 · External reference
10.1038/s41525-018-0053-8
10.1038/s41525-018-0053-8 · External reference
2024 ASHG presidential address: Incomplete penetrance and variable expressivity: Old concepts, new urgency
10.1016/j.ajhg.2025.01.010 · 2025 · External reference
10.3389/fgene.2022.920390
10.3389/fgene.2022.920390 · External reference
10.1126/scitranslmed.aad5169
10.1126/scitranslmed.aad5169 · External reference
10.1038/s41436-018-0271-6
10.1038/s41436-018-0271-6 · External reference
Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY
10.1210/clinem/dgaf599 · 2026 · External reference
10.1038/s41467-021-23556-4
10.1038/s41467-021-23556-4 · External reference
10.3389/fgene.2019.00722
10.3389/fgene.2019.00722 · External reference
10.1101/2025.10.22.25338523
10.1101/2025.10.22.25338523 · External reference
10.1101/2025.10.14.25337784
10.1101/2025.10.14.25337784 · External reference
Low population penetrance of variants associated with inherited retinal degenerations
10.1016/j.ajhg.2025.11.015 · 2026 · External reference
10.1001/jama.2021.23686
10.1001/jama.2021.23686 · External reference
10.1016/j.ajhg.2018.12.015
10.1016/j.ajhg.2018.12.015 · External reference
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
10.1038/s41467-025-61698-x · 2025 · External reference
10.1038/gim.2017.50
10.1038/gim.2017.50 · External reference
10.1101/2023.05.07.23289614
10.1101/2023.05.07.23289614 · External reference
Common genetic variants contribute to incomplete penetrance: evidence from cancer-free BRCA1 mutation carriers
10.1016/j.ejca.2018.10.022 · 2019 · External reference
Incomplete penetrance of MHC susceptibility genes: prospective analysis of polygenic MHC-determined traits
10.1034/j.1399-0039.2000.560301.x · 2000 · External reference
10.1038/s41586-024-08217-y
10.1038/s41586-024-08217-y · External reference
10.1101/2025.09.18.25336048
10.1101/2025.09.18.25336048 · External reference
HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K
10.1111/ene.16473 · 2024 · External reference
Genetic modifiers of rare variants in monogenic developmental disorder loci
10.1038/s41588-024-01710-0 · 2024 · External reference
VEXAS-Defining UBA1 Somatic Variants in 245,368 Diverse Individuals in the NIH All Of Us Cohort
10.1002/art.42802 · 2024 · External reference
Monoallelic expression can govern penetrance of inborn errors of immunity
10.1038/s41586-024-08346-4 · 2025 · External reference
Exome and RNA-Seq analyses of an incomplete penetrance variant in USP9X in female-specific syndromic intellectual disability
10.1002/ajmg.a.62715 · 2022 · External reference
10.1101/2023.01.31.526505
10.1101/2023.01.31.526505 · External reference
10.3389/fgene.2024.1409459
10.3389/fgene.2024.1409459 · External reference
10.1016/j.gim.2021.08.003
10.1016/j.gim.2021.08.003 · External reference
10.1038/s41467-023-37703-6
10.1038/s41467-023-37703-6 · External reference
10.1038/s41467-022-31392-3
10.1038/s41467-022-31392-3 · External reference
10.7554/elife.20125
10.7554/elife.20125 · External reference
10.1056/nejmsr1406261
10.1056/nejmsr1406261 · External reference
10.1002/humu.24366
10.1002/humu.24366 · External reference
10.1093/nar/gku1205
10.1093/nar/gku1205 · External reference
10.1016/j.ajhg.2023.08.005
10.1016/j.ajhg.2023.08.005 · External reference
10.1016/j.cell.2018.12.015
10.1016/j.cell.2018.12.015 · External reference
10.1186/s13148-019-0684-3
10.1186/s13148-019-0684-3 · External reference
10.1038/ncomms10207
10.1038/ncomms10207 · External reference
Scikit-learn: Machine learning in Python
2011 · External reference
10.1126/science.aaz1776
10.1126/science.aaz1776 · External reference
10.1016/j.ajhg.2018.10.025
10.1016/j.ajhg.2018.10.025 · External reference
Unresolved reference
External reference
10.1038/s41588-019-0344-8
10.1038/s41588-019-0344-8 · External reference
10.1073/pnas.1405266111
10.1073/pnas.1405266111 · External reference
Scaling genomic reanalysis to unlock diagnoses and transform rare disease care
2026 · External reference
10.1101/2025.05.19.25327921
10.1101/2025.05.19.25327921 · External reference
10.1038/ng.2711
10.1038/ng.2711 · External reference
10.3389/fnins.2014.00331
10.3389/fnins.2014.00331 · External reference
10.1016/j.humimm.2006.01.001
10.1016/j.humimm.2006.01.001 · External reference
A human leukocyte antigen imputation study uncovers possible genetic interplay between gut inflammatory processes and autism spectrum disorders
10.1038/s41398-023-02550-y · 2023 · External reference
10.3390/ijms25189879
10.3390/ijms25189879 · External reference
