Research outputs
2025
Structural and epistatic regulatory variants cause hallmark white spotting in cattle.
Jivanji, S., Wilkinson, E., Tang, L., Tiplady, K. M., Yeates, A., Harland, C., . . . Littlejohn, M. D. (2025). Structural and epistatic regulatory variants cause hallmark white spotting in cattle.. Science advances, 11(46), eadt5913. doi:10.1126/sciadv.adt5913
Moonlighting Role of Meiotic SYCP1 in Breast Cancer: A Chromatin-Bound Regulator of DNA Repair, Transcription, and Drug Resistance
2023
Genetically engineered multicistronic allele of Pmel yielding highly specific CreERT2-mediated recombination in the melanocyte lineage.
Wilkinson, E. L., Brennan, L. C., Harrison, O. J., Crane-Smith, Z., Gautier, P., Keighren, M. A., . . . Mort, R. L. (2023). Genetically engineered multicistronic allele of Pmel yielding highly specific CreERT2-mediated recombination in the melanocyte lineage.. Pigment cell & melanoma research, 36(1), 71-77. doi:10.1111/pcmr.13076
2021
Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V.
Eckl, K. M., Gruber, R., Brennan, L., Marriott, A., Plank, R., Moosbrugger-Martinz, V., . . . Schmuth, M. (2021). Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V.. Frontiers in genetics, 12, 689940. doi:10.3389/fgene.2021.689940