| Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data I Tachmazidou, K Hatzikotoulas, L Southam, J Esparza-Gordillo, ... Nature genetics 51 (2), 230-236, 2019 | 411 | 2019 |
| Mapping the proteo-genomic convergence of human diseases M Pietzner, E Wheeler, J Carrasco-Zanini, A Cortes, M Koprulu, ... Science 374 (6569), eabj1541, 2021 | 199 | 2021 |
| Synergistic insights into human health from aptamer-and antibody-based proteomic profiling M Pietzner, E Wheeler, J Carrasco-Zanini, ND Kerrison, E Oerton, ... Nature communications 12 (1), 6822, 2021 | 105 | 2021 |
| GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health Y Zhao, S Stankovic, M Koprulu, E Wheeler, FR Day, H Lango Allen, ... Nature Communications 12 (1), 4178, 2021 | 27 | 2021 |
| Detection and characterization of male sex chromosome abnormalities in the UK Biobank study Y Zhao, EJ Gardner, MA Tuke, H Zhang, M Pietzner, M Koprulu, RY Jia, ... Genetics in medicine 24 (9), 1909-1919, 2022 | 17 | 2022 |
| Identification of rare loss-of-function genetic variation regulating body fat distribution M Koprulu, Y Zhao, E Wheeler, L Dong, N Rocha, C Li, JD Griffin, S Patel, ... The Journal of Clinical Endocrinology & Metabolism 107 (4), 1065-1077, 2022 | 15 | 2022 |
| Cross-platform proteomics to advance genetic prioritisation strategies M Pietzner, E Wheeler, J Carrasco-Zanini, ND Kerrison, E Oerton, ... BioRxiv, 2021.03. 18.435919, 2021 | 13 | 2021 |
| CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies M Koprulu, RMK Shabbir, Q Zaman, G Nalbant, S Malik, A Tolun European Journal of Medical Genetics 64 (4), 104181, 2021 | 11 | 2021 |
| Proteogenomic links to human metabolic diseases M Koprulu, J Carrasco-Zanini, E Wheeler, S Lockhart, ND Kerrison, ... Nature metabolism 5 (3), 516-528, 2023 | 9 | 2023 |
| Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism MJ Iglesias, L Sanchez-Rivera, M Ibrahim-Kosta, C Naudin, G Munsch, ... nature communications 14 (1), 3280, 2023 | 6 | 2023 |
| The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1 M Koprulu, A Kumare, A Bibi, S Malik, A Tolun American Journal of Medical Genetics Part A 185 (6), 1858-1863, 2021 | 5 | 2021 |
| KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies M Koprulu, M Naeem, G Nalbant, RMK Shabbir, T Mahmood, Z Huma, ... European Journal of Human Genetics 30 (11), 1292-1296, 2022 | 4 | 2022 |
| Trans-ancestry meta-analysis improves performance of genetic scores for multiple adiposity-related traits in East Asian populations Z Fairhurst-Hunter, K Lin, IY Millwood, A Pozarickij, TT Chen, JM Torres, ... medRxiv, 2022.07. 05.22277254, 2022 | 3 | 2022 |
| Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism Q Zahra, Ç Çakmak, M Koprulu, M Shuaib, N Sobreira, L Kalsner, ... Journal of Human Genetics 65 (12), 1115-1123, 2020 | 3 | 2020 |
| Genome-wide association and functional analyses identify CASC20 and KIF26B as target loci in heterotopic ossification K Hatzikotoulas, GAE Pickering, MJ Clark, F Felix-Ilemhenbhio, K Kocsy, ... bioRxiv, 845958, 2019 | 2 | 2019 |
| Identifying proteomic risk factors for overall, aggressive and early onset prostate cancer using Mendelian randomization and tumor spatial transcriptomics TA Desai, ÅK Hedman, M Dimitriou, M Koprulu, S Figiel, W Yin, ... medRxiv, 2023 | 1 | 2023 |
| Genetic architecture and shared mechanisms of common′ neglected′ diseases M Pietzner, S Denaxas, Y Summaira, M Wörheide, HE Schmidt, B Uluvar, ... medRxiv, 2023.05. 23.23290408, 2023 | 1 | 2023 |
| From genome to phenome via the proteome: broad capture, antibody-based proteomics to explore disease mechanisms M Koprulu, J Carrasco-Zanini, E Wheeler, S Lockhart, ND Kerrison, ... medRxiv, 2022.08. 19.22278984, 2022 | 1 | 2022 |
| Similar and different: systematic investigation of proteogenomic variation between sexes and its relevance for human diseases M Koprulu, E Wheeler, ND Kerrison, S Denaxas, J Carrasco-Zanini, ... medRxiv, 2024.02. 16.24302936, 2024 | | 2024 |
| Focus: Big Data: Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias M Koprulu, RMK Shabbir, S Mumtaz, A Tolun, S Malik The Yale Journal of Biology and Medicine 96 (3), 367, 2023 | | 2023 |
