Publications

For a full list of publications, please click here.

Selected Publications

  1. 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. medRxiv. Sept 2023. https://doi.org/10.1101/2023.09.12.23295416

  2. 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. medRxiv. June 2023. https://doi.org/10.1101/2023.06.23.23291805

  3. 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. bioRxiv. May 2023. https://doi.org/10.1101/2023.05.15.540809

  4. 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

  5. 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

  6. 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 *equal contribution

  7. Chothani SP, Adami E, Widjaja AA, …, Whiffin N et al. A high-resolution map of human translation. Molecular Cell. 2022, 82(15), pp. 2885–2899.e8 https://www.cell.com/molecular-cell/pdf/S1097-2765(22)00606-2.pdf

  8. Blakes AJM, Wai HA, Davies, …, Whiffin N, Baralle D and Lord J. A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. Genome Medicine. 2022, 14(1), 79. https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-022-01087-x

  9. 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

  10. 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

  11. 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

  12. 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

  13. Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N et al. Evaluating potential drug targets through human loss-of-function genetic variation. Nature 2020: https://doi.org/10.1038/s41586-020-2267-z

  14. Karczewski KJ, Francioli LC, Tiao G, [22 authors], Whiffin N et al. Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes. Nature 2020: https://doi.org/10.1038/s41586-020-2308-7

  15. Whiffin N, Walsh R, Govind R et al. CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation. Genetics in Medicine, 2018 Jan 25.

  16. 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.