Author

Sarah Howles

University of OxfordORCID 0000-0001-6342-0895Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Akira WibergiD· 1 shared Albert C.M. OngiD· 1 shared Albertien M. van EerdeiD· 1 shared Alice E. DavidsoniD· 1 shared Alistair T. PagnamentaiD· 1 shared Amy R. HicksiD· 1 shared Andrew David MumfordiD· 1 shared Andrew R. WebsteriD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenomics

Akira WibergORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintDec 20, 2023

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

Valentina Cipriani, Letizia Vestito, Emma Forton Magavern…·Damian P. Smedley

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

3 citations

humanwhole-genome sequencing

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GenomicsNature CommunicationsPeer-reviewedNov 15, 2019

Genetic variants of calcium and vitamin D metabolism in kidney stone disease

Sarah Howles, Akira Wiberg, Michelle E. Goldsworthy…·Dominic Furniss

This study identifies 20 genetic loci associated with kidney stone disease, including novel variants in CYP24A1 and DGKD, which influence vitamin D metabolism and calcium-sensing receptor signaling.

146 citations

humanGWAS summary statistics

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