Author

Freya Boardman-Pretty

Genomics England

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Organism:Drosophila· 1 Organism:mouse· 1

Frequent Co-Authors

Adam P GiessiD· 3 shared Angela D. HambliniD· 3 shared Anna C. NeediD· 3 shared Athanasios KousathanasiD· 3 shared Chris A. Odhams· 3 shared Christine PatchiD· 3 shared Christopher R. BoustrediD· 3 shared D. Perez-Gil· 3 shared

Activity by Year

2021-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Adam P GiessORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJul 7, 2023

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini…·Ellen Thomas

This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.

45 citationstop 4%

humanDrosophila

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Genetic & Genomic MedicineGenome MedicinePeer-reviewedOct 13, 2022

Mendelian gene identification through mouse embryo viability screening

Pilar Cacheiro, Carl Henrik Westerberg, Jesse Mager…·John Pullinger

The paper identifies novel Mendelian genes by analyzing mouse embryo lethality and linking them to human disease phenotypes and genetic variants.

14 citations

mousewhole-genome sequencing

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GenomicsNature CancerPeer-reviewedApr 26, 2021

Dissecting mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

Xueqing Zou, Ching Chiek Koh, Arjun Scott Nanda…·Magdalena Zarowiecki

The paper identifies gene-specific mutational signatures caused by replication errors and endogenous DNA damage using CRISPR-Cas9 knockouts and whole-genome sequencing.

160 citationstop 1%

humanwhole-genome sequencing

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