Research output per year
Research output per year
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Dive into the research topics where Ellen Thomas 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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GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements
NIHR BioResource & Genomics England Research Consortium Collaborators, Dec 2022, In: Nature Communications. 13, 1, 4840.Research output: Contribution to journal › Article › peer-review
Open Access21 Citations (Scopus) -
Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma
Genomics England Research Consortium, Dec 2021, In: Scientific Reports. 11, 1, 3962.Research output: Contribution to journal › Article › peer-review
Open Access36 Citations (Scopus) -
Whole-genome sequencing of patients with rare diseases in a national health system
NIHR BioResource for the 100,000 Genomes Project, Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., Stephens, J., Mapeta, R., Burren, O. S., Downes, K., Haimel, M., Tuna, S., Deevi, S. V. V., Aitman, T. J. & Bennett, D. L. & 31 others, , 2 Jul 2020, In: Nature. 583, 7814, p. 96-102 7 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile332 Citations (Scopus)1979 Downloads (Pure) -
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, Simpson, M. A., Prigmore, E., Jones, P., Armstrong, R., Bennett, C., Berg, J., Bernhard, B., Cooper, N., Cox, H., Flinter, F., Fry, A., Gill, H., Gray, E., Harrison, V., Irving, M., Josifova, D. & Langman, C. & 44 others, , 2 May 2019, In: American Journal of Human Genetics. 104, 5, p. 948-956 9 p.Research output: Contribution to journal › Article › peer-review
46 Citations (Scopus) -
Evaluation of the 100,000 Genomes Project Consent Process and Participant Materials
Benjamin, C. M., Boudioni, M., Ward, H., Marston, E., Lindenmeyer, A., Bangee, M., Lucas, J. C., Leavey, R., Caulfield, M., Fowler, T., Lucassen, A., Rennie, F., Riley, L., Parker, M., Parry, V., Thomas, E., Patch, C., Cranage, A. & Dinh, L., Oct 2018, In: European Journal of Human Genetics. 26, p. 51-52Research output: Contribution to journal › Meeting Abstract › peer-review