Publications

Transcriptome analysis reveals overlap in fusion genes in a phase I clinical cohort of TNBC and HGSOC patients treated with buparlisib and olaparib.

Eismann J, Heng YJ, Waldschmidt JM, et al. Transcriptome analysis reveals overlap in fusion genes in a phase I clinical cohort of TNBC and HGSOC patients treated with buparlisib and olaparib. J Cancer Res Clin Oncol. 2020;146(2):503-514. doi:10.1007/s00432-019-03078-9

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Bryen SJ, Ewans LJ, Pinner J, et al. Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Hum Mutat. 2020;41(2):403-411. doi:10.1002/humu.23938

Metabolomic profiles associated with all-cause mortality in the Women's Health Initiative.

Balasubramanian R, Paynter NP, Giulianini F, et al. Metabolomic profiles associated with all-cause mortality in the Women’s Health Initiative. Int J Epidemiol. 2020;49(1):289-300. doi:10.1093/ije/dyz211

Aggressive Subsets of Metastatic Triple Negative Breast Cancer.

Singh J, Asad S, Zhang Y, et al. Aggressive Subsets of Metastatic Triple Negative Breast Cancer. Clin Breast Cancer. 2020;20(1):e20-e26. doi:10.1016/j.clbc.2019.06.012

Gender-specific experiences of serious mental illness in rural Ethiopia: A qualitative study.

Ghebrehiwet S, Baul T, Restivo JL, et al. Gender-specific experiences of serious mental illness in rural Ethiopia: A qualitative study. Glob Public Health. 2020;15(2):185-199. doi:10.1080/17441692.2019.1680723

A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability.

Pravata VM, Gundogdu M, Bartual SG, et al. A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability. FEBS Lett. 2020;594(4):717-727. doi:10.1002/1873-3468.13640

Accelerating Medicines Partnership: Organizational Structure and Preliminary Data From the Phase 1 Studies of Lupus Nephritis.

Hoover P, Der E, Berthier CC, et al. Accelerating Medicines Partnership: Organizational Structure and Preliminary Data From the Phase 1 Studies of Lupus Nephritis. Arthritis Care Res (Hoboken). 2020;72(2):233-242. doi:10.1002/acr.24066

Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people.

Finer S, Martin HC, Khan A, et al. Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people. Int J Epidemiol. 2020;49(1):20-21i. doi:10.1093/ije/dyz174

Copy number variants in lipid metabolism genes are associated with gallstones disease in men.

Pérez-Palma E, Bustos BI, Lal D, et al. Copy number variants in lipid metabolism genes are associated with gallstones disease in men. Eur J Hum Genet. 2020;28(2):264-273. doi:10.1038/s41431-019-0501-7

The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.

Mandl KD, Glauser T, Krantz ID, et al. The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. Genet Med. 2020;22(2):371-380. doi:10.1038/s41436-019-0646-3

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Publications

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