Author

Helen R Griffin

Newcastle UniversityORCID 0000-0002-5288-3322Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:cell-cell communication· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:Drosophila· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Damian P. SmedleyiD· 2 shared Mark J. CaulfieldiD· 2 shared Patrick Francis ChinneryiD· 2 shared Sophie HambletoniD· 2 shared Adam P GiessiD· 1 shared Adela Della MarinaiD· 1 shared Afshan SiddiqiD· 1 shared Albert C.M. OngiD· 1 shared

Activity by Year

2020-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 28 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Damian P. SmedleyORCID

Mutual co-authors in cluster

Author profile →

3 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

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

Genetic & Genomic MedicineThe EMBO JournalPeer-reviewedOct 31, 2020

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

Denisa Hathazi, Helen R Griffin, Matthew James Jennings…·Rita Horváth

The paper identifies a metabolic shift involving amino acid availability and mitochondrial biogenesis as the mechanism underlying recovery in reversible infantile respiratory chain deficiency.

48 citations

humanDNA methylation