Research output per year
Research output per year
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Dive into the research topics where Carol-Anne Martin is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Research output
- 7 Article
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Heterozygous Lamin B1 and Lamin B2 Variants cause Primary Microcephaly and Define a Novel Laminopathy
Genomics England Research Consortium, Blyth, M., Cox, H., Donnelly, D. E., Greenhalgh, L., Greville-Heygate, S., Harrison, V., Lachlan, K., McKenna, C., Quigley, A., Rea, G., Robertson, L., Suri, M. & Jackson, A. P., 9 Oct 2020, (E-pub ahead of print) In: Genetics in Medicine. 23, 2, p. 408–414Research output: Contribution to journal › Article › peer-review
Open AccessFile -
Clinical and molecular characterization of familial exudative vitreoretinopathy associated with microcephaly
Hull, S., Arno, G., Ostergaard, P., Pontikos, N., Robson, A. G., Webster, A. R., Hogg, C. R., Wright, G. A., Henderson, R. H. H., Martin, C-A., Jackson, A. P., Mansour, S., Moore, A. T. & Michaelides, M., 8 May 2019, (E-pub ahead of print) In: American Journal of Ophthalmology.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of polycomb-regulated regions
Heyn, P., Logan, C. V., Fluteau, A., Challis, R. C., Auchynnikava, T., Martin, C-A., Marsh, J. A., Taglini, F., Kilanowski, F., Parry, D., Cormier-Daire, V., Fong, C-T., Gibson, K., Hwa, V., Ibanez, L., Robertson, S. P., Sebastiani, G., Rappsilber, J., Allshire, R. C., Reijns, M. A. M., & 3 others, Jan 2019, In: Nature Genetics. 51, 1, p. 96–105 10 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
GOSgene, Martin, C-A., Sarlós, K., Logan, C. V., Thakur, R. S., Parry, D. A., Bizard, A. H., Leitch, A., Cleal, L., Ali, N. S., Al-Owain, M. A., Allen, W., Altmüller, J., Aza-Carmona, M., Barakat, B. A. Y., Barraza-García, J., Begtrup, A., Bogliolo, M., Cho, M. T., Cruz-Rojo, J., & 31 others, 2 Aug 2018, In: American Journal of Human Genetics.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
cGAS surveillance of micronuclei links genome instability to innate immunity
Mackenzie, K. J., Carroll, P., Martin, C-A., Murina, O., Fluteau, A., Simpson, D. J., Olova, N., Sutcliffe, H., Rainger, J. K., Leitch, A., Osborn, R. T., Wheeler, A. P., Nowotny, M., Gilbert, N., Chandra, T., Reijns, M. A. M. & Jackson, A. P., 24 Aug 2017, In: Nature. 548, 7668, p. 461–465 5 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile