Author

Gemma Poke

ORCID 0000-0002-8748-4866Unclaimed 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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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alison M. MeynertiD· 1 shared Andrew GreeniD· 1 shared Andrew O.M. WilkieiD· 1 shared Angela J Barnicoat· 1 shared Chirag PateliD· 1 shared Christopher BarnettiD· 1 shared David ParryiD· 1 shared David R FitzPatrickiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alison M. MeynertORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineHuman MutationPeer-reviewedJan 1, 2025

Whole genome sequencing of mutation-negative individuals with Cornelia de Lange Syndrome

Morad Ansari, Mihail R. Halachev, David Parry…·Alison M. Meynert

This study uses whole genome sequencing to identify causative variants in mutation-negative Cornelia de Lange Syndrome patients, finding novel genes and regulatory regions involved.

3 citations

humanwhole-genome sequencing

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