Author

Holly Ironfield

Wellcome Sanger Institute

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

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Genetics· 3 Genetic & Genomic Medicine· 2

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Organism:human· 5 Assay:whole-exome sequencing· 4 Research Focus:differential expression· 3 Approach:statistical model· 3 Approach:experimental assay· 2 Research Focus:variant effect prediction· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1

Frequent Co-Authors

Matthew E. HurlesiD· 5 shared Sebastian S. GeretyiD· 5 shared Helen V. FirthiD· 3 shared Christine RowleyiD· 2 shared David R FitzPatrickiD· 2 shared Eugene J. GardneriD· 2 shared Gabriela Sánchez-AndradeiD· 2 shared Giuseppe GalloneiD· 2 shared

Activity by Year

2019-2023 · peak 2/yr

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10 top collaborators · 32 mutual co-author links

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5 shared papersGenetics

Matthew E. HurlesORCID

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5 papers

Recent·Most cited

Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation

Elizabeth J. Radford, Hong-Kee Tan, Malin H. L. Andersson, James D. Stephenson, Eugene J. Gardner, Holly Ironfield, Andrew J. Waters, Daniel P. Gitterman, Sarah Lindsay, Federico Abascal, Iñigo Martincorena, Anna Kolesnik, Elise Ng‐Cordell, Helen V. Firth, Kate Baker, , Matthew E. Hurles

The paper uses saturation genome editing to assess DDX3X variants' functional impact, identifies pathogenic variants for neurodevelopmental disorders, and develops a classifier outperforming existing tools.

Nature Communications · Dec 6, 2023Peer-reviewedGenetic & Genomic Medicine

The impact of rare protein coding genetic variation on adult cognitive function

Chia‐Yen Chen, Ruoyu Tian, Tian Ge, Max Lam, Gabriela Sánchez-Andrade, Tarjinder Singh, Lea Urpa, Jimmy Z. Liu, Mark Sanderson, Christine Rowley, Holly Ironfield, Terry Fang, Biogen Biobank Team, The SUPER-Finland study, Aija Kyttälä, , Heiko Runz

This study identifies eight genes associated with adult cognitive function through rare coding variants and shows how KDM5B dosage affects cognitive traits in mice and humans.

Nature Genetics · May 25, 2023Peer-reviewedGenetic & Genomic Medicine

Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

Maria O. Levitin, Lettie E. Rawlins, Gabriela Sánchez-Andrade, Osama A. Arshad, Stephan C. Collins, Stephen J. Sawiak, Philip H. Iffland, Malin H. L. Andersson, Caleb P. Bupp, Emma L. Cambridge, Eve L. Coomber, Ian Ellis, Johanna C. Herkert, Holly Ironfield, Logan Jory, , Sebastian S. Gerety

The paper investigates KPTN-related disorder using mouse and human stem cell models, identifying mTOR pathway dysregulation as a key mechanism underlying cognitive and overgrowth phenotypes.

bioRxiv · Jul 15, 2022 · PreprintGenetics

Contribution of Retrotransposition to Developmental Disorders

Eugene J. Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E. Samocha, Juliet Handsaker, Sebastian S. Gerety, Holly Ironfield, Patrick Short, Alejandro Sifrim, Tarjinder Singh, Kate Chandler, Emma M. Clement, Katherine L. Lachlan, Katrina Prescott, , on behalf of the Deciphering Developmental Disorders study

The paper identifies retrotransposition events in developmental disorders using exome sequencing data from the DDD study and shows their evolutionary constraints.

Nature Communications · Oct 11, 2019Peer-reviewedGenetics

Pathogenicity and selective constraint on variation near splice sites

Jenny Lord, Giuseppe Gallone, Patrick Short, Jeremy F. McRae, Holly Ironfield, Elizabeth H. Wynn, Sebastian S. Gerety, Liu He, Bronwyn A. Kerr, Diana S. Johnson, Emma McCann, Esther Kinning, Frances A. Flinter, I. Karen Temple, Jill Clayton‐Smith, , on behalf of the Deciphering Developmental Disorders study

The paper analyzes exome sequencing data to assess the contribution of splice site mutations to developmental disorders and estimates their pathogenicity and underrepresentation in public databases.

Genome Research · Feb 1, 2019Peer-reviewedGenetics