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References from Recalculated CNV penetrance: what it does and does not change for counselling. Local targets link to admitted publications; unresolved targets remain external evidence.
Updated penetrance estimates for recurrent copy number variants - an improved definition and formula
10.1038/s41431-025-01948-0 · 2026 · External reference
10.1038/s41431-026-02236-1 · Admitted local publication
10.1093/oxfordjournals.aje.a115073
10.1093/oxfordjournals.aje.a115073 · External reference
10.1038/gim.2012.164
10.1038/gim.2012.164 · External reference
A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment
10.1016/j.gim.2024.101227 · 2025 · External reference
Identification of neuropsychiatric copy number variants in a health care system population
10.1001/jamapsychiatry.2020.2159 · 2020 · External reference
10.1136/jmedgenet-2018-105477
10.1136/jmedgenet-2018-105477 · External reference
10.1038/s41588-023-01449-0
10.1038/s41588-023-01449-0 · External reference
10.1192/bjp.2018.301
10.1192/bjp.2018.301 · External reference
10.1371/journal.pgen.1002118
10.1371/journal.pgen.1002118 · External reference
