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Genetic & Genomic Medicine· 1

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Research Focus:benchmarking· 1 Approach:statistical model· 1

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Boris ChaumetteiD· 1 shared Donna Duffin· 1 shared Eva Christina SchulteiD· 1 shared Evangelos VassosiD· 1 shared Gerome D. BreeniD· 1 shared Harriet CulleniD· 1 shared Heiko PalandiD· 1 shared Katherine Louise MuslineriD· 1 shared

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Boris ChaumetteORCID

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Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 13, 2026

Recalculated CNV penetrance: what it does and does not change for counselling

Gerome D. Breen, Harriet Cullen, Heiko Paland…·Kimberley Marie Kendall

The paper recalculates CNV penetrance for intellectual disability, showing lower estimates due to methodological differences, and recommends phenotype-specific risk reporting.

DOI 10.64898/2026.10.06.26364866

statistical modelbenchmarking

𝕏 PostBluesky