Publications

For a full list of publications, please click here.

Selected Publications

  1. Rius R, Blakes AJM, Chen Y [69 authors], Simons C*, and Whiffin N*. Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. Nature Genetics April 2026. *co-senior author https://www.nature.com/articles/s41588-026-02554-6

  2. De Jonghe J, Kim HC, Adedeji A, [37 authors], Whiffin N* and Findlay G*. Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders. Nature April 2026. *co-senior author https://www.nature.com/articles/s41586-026-10334-9

  3. Beer Wells ES, De Conti L, Kim HC, [13 authors], and Whiffin N. Modulating splicing in 5’ untranslated regions to treat rare haploinsufficient disease. bioRxiv. 2025. https://www.biorxiv.org/content/10.64898/2025.12.07.692584v1

  4. Martin-Geary AC, Blakes AJM, Dawes R, [18 authors], and Whiffin N. Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease. Genome Medicine April 2025. https://link.springer.com/article/10.1186/s13073-025-01464-2

  5. Chen Y, Dawes R, Kim HC, [93 authors], and Whiffin N. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature July 2024. https://www.nature.com/articles/s41586-024-07773-7

  6. Lord J, Oquendo CJ, Martin-Geary AC, [9 authors], and Whiffin N. Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants. Genetics in Medicine December 2024. https://www.gimjournal.org/article/S1098-3600(24)00183-7/fulltext

  7. Wieder N, D’Souza EN, Martin-Geary AC, [9 authors], and Whiffin N. Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes. Genome Biology 25, 111 (2024). https://doi.org/10.1186/s13059-024-03248-0‍

  8. Aspden JL, Wallace E and Whiffin N. Not all exons are protein-coding: addressing a common misconception. Cell Genomics 2023. 3(4). https://doi.org/10.1016/j.xgen.2023.100296

  9. Ellingford JM, Ahn JW, Bagnall RD, … and Whiffin N. Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Medicine 2022. 14, 73. https://doi.org/10.1186/s13073-022-01073-3

  10. Zhang X, Theotokis PI, Li N, the SHaRe Investigators, Wright CF, Samocha KE, Whiffin N* and Ware JS*. Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discovery. medRxiv 2022 https://www.medrxiv.org/content/10.1101/2022.02.16.22271023v1 *co-senior author 

  11. Wright CF, Quaife NM, Ramos-Hernández L, … and Whiffin N. Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. American Journal of Human Genetics 2021: https://doi.org/10.1016/j.ajhg.2021.04.025

  12. Zhang X, Wakeling M, Ware JS and Whiffin N. Annotating high-impact 5’untranslated region variants with the UTRannotator. Bioinformatics btaa783 2021: https://doi.org/10.1093/bioinformatics/btaa783

  13. Whiffin N, Karczewski KJ, Zhang X et al. Characterising the loss-of-function impact of 5' untranslated region variants in whole genome sequence data from 15,708 individuals. Nature Communications 2020: https://doi.org/10.1038/s41467-019-10717-9

  14. Whiffin N, Armean I, Kleinman A et al. Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease. Nature Medicine 2020: https://doi.org/10.1038/s41591-020-0893-5

  15. Whiffin N, Minikel E, Walsh R et al. Using high-resolution variant frequencies to empower clinical genome interpretation. Genetics in Medicine, 2017. Oct; 19(10):1151-1158.