Some key, recent publications about Bloom syndrome.
- Health supervision for people with Bloom syndrome. Cunniff, C., Djavid, A.R., Carrubba, S., Cohen B., Ellis, N.A., Levy, C.F., Jeong, S., Lederman, H.M., Vogiatzi, M., Walsh, M.F., Zauber, A.G. American Journal of Medical Genetics Part A 1-10, 2018.
- Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families. Campbell, M.B., Campbell, W.C., Rogers, J., Rogers, N., Rogers, Z., Hurk A.M., Webb, A., Webb, T., Zaslaw, P. Molecular Case Studies 10.1101/mcs.a002816, 2018.
- Bloom’s Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition. Cunniff, C., Bassetti, J.A., Ellis, N.A. Molecular Syndromology 8:4-23, 2016.
- Bloom syndrome patients and mice display accelerated epigenetic aging. Jamie Lee, Joshua Zhang, Maeve Flanagan, Julian A. Martinez, Christopher Cunniff, Nicole Kucine, Ake T. Lu, Amin Haghani, Juozas Gordevičius, Steve Horvath, Vivian Y. Chang. First published: 18 August 2023 https://doi.org/10.1111/acel.13964
- Bloom syndrome DNA helicase deficiency is associated with oxidative stress and mitochondrial network changes, Veena Subramanian, Brian Rodemoyer, Vivek Shastri, Lene J. Rasmussen, Claus Desler & Kristina H. Schmidt Scientific Reports volume 11, Article number: 2157 (2021): https://www.nature.com/articles/s41598-021-81075-0.
- Immunodeficiency in Bloom’s Syndrome. Schoenaker, M.H.D., Henriet, S.S., Zonderland, J.,van Deuren, M., Pan-Hammarström, Q., Posthumus-van Sluijs, S.J., Pico-Knijnenburg, I.,Weemaes, C.M.R., IJspeer, H. Journal of Clinical Immunology 10.1007/s10875-017-0454-y, 2017.
- Bloom syndrome does not always present with sun-sensitive facial erythema. Bouman, A., van Koningsbruggen, S., Karakullukcu, M.B., Schreuder, W.H., Lakeman, P. European Journal of Medical Genetics pii: S1769-7212 (17)30478-0, 2017.