Author

Laura Luisa Kilarski

University of BonnORCID 0000-0003-0645-3134Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

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

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Boris ChaumetteORCID

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1 paper

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

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