Emma L Baple

27PUBLICATIONS
89CO-AUTHORS
NeurogeneticsGenome structure and regulationGene mappingEpigenetics (incl. genome methylation and epigenomics)Genomics
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Publications (27)

|Sep 18, 2026
Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening.

|Sep 15, 2026
Stepwise Humanization of the Yeast TRAPP Core Enables Functional Analysis of TRAPP Variants.

|Jul 02, 2026
Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals.

|May 18, 2026
Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening.

|May 12, 2026
Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.

|Feb 16, 2026
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.

Lettie E Rawlins, Philip H Iffland, John Page

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Frequent Collaborators

10 joint publications

James Fasham

7 joint publications

Joseph S Leslie

6 joint publications

Lettie E Rawlins

5 joint publications

Andrew H Crosby