Author

K Wood

Manchester Academic Health Science CentreORCID 0000-0002-6459-2127Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Huw B. ThomasiD· 2 shared Raymond T. O’KeefeiD· 2 shared Abhijit DixitiD· 1 shared Ajith KumariD· 1 shared Alexander T. DengiD· 1 shared Alfredo Dueñas ReyiD· 1 shared Alice GardhamiD· 1 shared Alison Stewart· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Huw B. ThomasORCID

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3 papers

Recent·Most cited

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

Alfredo Dueñas Rey, Marta Del Pozo‐Valero, Manon Bouckaert, K Wood, Filip Van den Broeck, Malena Daich Varela, Huw B. Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana J. Josifova, Carlo Rivolta, , Frauke Coppieters

The paper identifies 11 likely pathogenic 5'UTR variants in IRD genes using a prioritization strategy and functional validation.

Genome Medicine · Jan 6, 2024Peer-reviewedGenetic & Genomic Medicine

The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, K Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibault, Jonathan P. Williams, Edward M. Blair, Fiona Blanco‐Kelly, Angela Bloss, Emma Burkitt‐Wright, Natalie L.E. Canham, , Anne Goriely

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.

bioRxiv · Jul 26, 2022 · PreprintGenetics

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells

K Wood, Charlie F Rowlands, Huw B. Thomas, Woods Jon S, Julieta O’Flaherty, Sofia Douzgou, Susan J. Kimber, William G. Newman, Raymond T. O’Keefe

This study uses patient-derived iPSCs to model Burn-McKeown Syndrome, revealing reduced TXNL4A expression causes splicing defects and impaired neural crest cell differentiation.

PLoS ONE · Jul 31, 2020Peer-reviewedGenetics