| Pub ID | Title | Author(s) | Year | Journal |
|---|
| 12040 | A deep catalogue of protein-coding variation in 983,578 individuals | Gonçalo Abecasis (+262) | 2024 | Nature |
| 8351 | A large meta-analysis identifies genes associated with anterior uveitis | Sahar Gelfman (+21) | 2023 | Nature Communications |
| 13953 | A phase 1/2 safety and efficacy study of TAK-754 gene therapy: The challenge of achieving durable factor VIII expression in haemophilia A clinical trials | John Chapin (+13) | 2024 | Haemophilia |
| 8127 | A stacking ensemble machine learning model to predict alpha-1 antitrypsin deficiency-associated liver disease clinical outcomes based on UK Biobank data | Linxi Meng (+3) | 2022 | Scientific Reports |
| 10534 | ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma | Goncalo R. Abecasis (+75) | 2022 | Communications Biology |
| 11267 | Adeno-associated virus 2 infection in children with non-A-E hepatitis | Antonia Ho (+55) | 2023 | Nature |
| 15310 | Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases | Jonathan Mitchell (+33) | 2025 | Nature Communications |
| 11498 | Assessing the potential of polygenic scores to strengthen medical risk prediction models of COVID-19 | Aldo Córdova-Palomera (+5) | 2023 | PLOS ONE |
| 4238 | Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry | Margaret M. Parker (+21) | 2021 | Scientific Reports |
| 11678 | Blood protein assessment of leading incident diseases and mortality in the UK Biobank | Danni A. Gadd (+13) | 2024 | Nature Aging |
| 7565 | Cancer-driving mutations are enriched in genic regions intolerant to germline variation | Dimitrios Vitsios (+10) | 2022 | Science Advances |
| 8945 | Combining genotype with height-adjusted kidney length predicts rapid progression of ADPKD | Eugene W C Chen (+6) | 2024 | Nephrology Dialysis Transplantation |
| 16666 | Common Diseases in Clinical Cohorts - Not Always What They Seem | Fedik Rahimov (+14) | 2025 | The New England Journal of Medicine |
| 10729 | Common and rare variant associations with clonal haematopoiesis phenotypes | Michael D. Kessler (+42) | 2022 | Nature |
| 15270 | Common genetic modifiers influence cardiomyopathy susceptibility among the carriers of rare pathogenic variants | Samantha J. Klasfeld (+6) | 2025 | Human Genetics and Genomics Advances |
| 13503 | Disease prediction with multi-omics and biomarkers empowers case-control genetic discoveries in the UK Biobank | Manik Garg (+16) | 2024 | Nature Genetics |
| 10150 | Divergent role of Mitochondrial Amidoxime Reducing Component 1 (MARC1) in human and mouse | Eriks Smagris (+18) | 2024 | PLOS Genetics |
| 15567 | Diverse ancestral representation improves genetic intolerance metrics | Alexander L. Han (+12) | 2025 | Nature Communications |
| 8117 | Effects of lifestyle risk behaviour clustering on cardiovascular disease among UK adults: latent class analysis with distal outcomes | Teketo Kassaw Tegegne (+2) | 2022 | Scientific Reports |
| 11108 | Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank | Abhishek Nag (+14) | 2023 | American Journal of Human Genetics |
| 7287 | Estimating colocalization probability from limited summary statistics | Emily A. King (+3) | 2021 | BMC Bioinformatics |
| 4821 | Exome sequencing and analysis of 454,787 UK Biobank participants | Joshua D. Backman (+40) | 2021 | Nature |
| 4822 | Exome sequencing and characterization of 49,960 individuals in the UK Biobank | Cristopher V. Van Hout (+50) | 2020 | Nature |
| 9777 | GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms | Goncalo Abecasis (+48) | 2021 | Nature Communications |
| 7584 | Gene-SCOUT: identifying genes with similar continuous trait fingerprints from phenome-wide association analyses | Lawrence Middleton (+6) | 2022 | Nucleic Acids Research |
| 4880 | Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes | Goncalo Abecasis (+129) | 2021 | Scientific Reports |
| 7590 | Genetic associations of protein-coding variants in human disease | Benjamin B. Sun (+12) | 2022 | Nature |
| 8120 | Genetic map of regional sulcal morphology in the human brain from UK biobank data | Benjamin B. Sun (+17) | 2022 | Nature Communications |
| 13799 | Genetics plays a limited role in predicting chronic obstructive pulmonary disease treatment response and exacerbation | Louise Hosking (+10) | 2021 | Respiratory Medicine |
| 7571 | Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis | Siddhartha P. Kar (+13) | 2022 | Nature Genetics |
| 5010 | Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals | Chuan Gao (+16) | 2021 | Genetic Epidemiology |
| 9744 | Genome-wide survey of parent-of-origin-specific associations across clinical traits derived from electronic health records | Hye In Kim (+8) | 2021 | Human Genetics and Genomics Advances |
| 15982 | Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease | Thomas P Spargo (+26) | 2025 | Cell Reports |
| 7682 | Hepatic SREBP signaling requires SPRING to govern systemic lipid metabolism in mice and humans | Sebastian Hendrix (+15) | 2023 | Nature Communications |
| 10693 | Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes | Abhishek Nag (+28) | 2022 | Science Advances |
| 5162 | Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis | Ryan S. Dhindsa (+25) | 2021 | Communications Biology |
| 8686 | Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data | Ioanna Tachmazidou (+20) | 2019 | Nature Genetics |
| 15660 | Identification of plasma proteomic markers underlying polygenic risk of type 2 diabetes and related comorbidities | Douglas P. Loesch (+20) | 2025 | Nature Communications |
| 10417 | Integrated analyses of growth differentiation factor-15 concentration and cardiometabolic diseases in humans | Susanna Lemmelä (+18) | 2022 | eLife |
| 15949 | Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis | Meritxell Oliva (+20) | 2025 | Nature Communications |
| 13288 | Joint testing of rare variant burden scores using non-negative least squares | Andrey Ziyatdinov (+19) | 2024 | American Journal of Human Genetics |
| 10399 | LTA4H rs2660845 association with montelukast response in early and late-onset asthma | Cyrielle Maroteau (+17) | 2021 | PLOS ONE |
| 7680 | Machine learning reveals genetic modifiers of the immune microenvironment of cancer | Bridget Riley-Gillis (+10) | 2023 | iScience |
| 10830 | Mapping of UK Biobank clinical codes: Challenges and possible solutions | Oleg Stroganov (+10) | 2022 | PLOS ONE |
| 15812 | Mitochondrial metabolism sustains DNMT3A-R882-mutant clonal haematopoiesis | Malgorzata Gozdecka (+41) | 2025 | Nature |
| 13495 | NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke | Gonçalo Abecasis (+163) | 2024 | Nature Communications |
| 10511 | Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake | Magdalena Zimoń (+14) | 2021 | Nature Communications |
| 14316 | Plasma Protein Biomarkers of Spirometry Measures of Impaired Lung Function | Mohit Aggarwal (+11) | 2024 | CHEST Journal |
| 8254 | Plasma neurofilament light levels show elevation two years prior to diagnosis of amyotrophic lateral sclerosis in the UK Biobank | Erin N. Smith (+6) | 2023 | Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration |
| 13383 | Population-Based Study of Rare Coding Variants in NR5A1/SF-1 | Chrysanthi Kouri (+6) | 2024 | Journal of the Endocrine Society |
| 9968 | Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease | Yajie Zhao (+33) | 2024 | Nature Genetics |
| 10880 | Rare coding variants in DNA damage repair genes associated with timing of natural menopause | Lucas D. Ward (+6) | 2021 | Human Genetics and Genomics Advances |
| 7800 | Rare genetic variants impact muscle strength | Yunfeng Huang (+10) | 2023 | Nature Communications |
| 7369 | Rare loss of function variants in the hepatokine gene INHBE protect from abdominal obesity | Aimee M. Deaton (+16) | 2022 | Nature Communications |
| 15796 | Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration | Aaron M Holleman (+11) | 2025 | American Journal of Human Genetics |
| 9422 | Rare variant associations with plasma protein levels in the UK Biobank | Ryan S. Dhindsa (+24) | 2023 | Nature |
| 5647 | Rare variant contribution to human disease in 281,104 UK Biobank exomes | Quanli Wang (+18) | 2021 | Nature |
| 5775 | Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation from Genome Sequencing | Keren J. Carss (+26) | 2020 | Circulation Genomic and Precision Medicine |
| 13086 | Systematic discovery of gene-environment interactions underlying the human plasma proteome in UK Biobank | Robert F. Hillary (+10) | 2024 | Nature Communications |
| 12272 | Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes | Konrad J. Karczewski (+44) | 2022 | Cell Genomics |
| 12497 | The burden of rare protein-truncating genetic variants on human lifespan | Jimmy Z. Liu (+6) | 2022 | Nature Aging |
| 15653 | The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes | Alex Tokolyi (+31) | 2025 | Nature Genetics |
| 12748 | The influence of HLA genetic variation on plasma protein expression | Chirag Krishna (+11) | 2024 | Nature Communications |
| 9030 | Transcript-aware analysis of rare predicted loss-of-function variants in the UK Biobank elucidate new isoform-trait associations. | Rachel A Hoffing (+8) | 2024 | Biocomputing |
| 7591 | Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits | Bryce Rowland (+17) | 2022 | Human Molecular Genetics |
| 5922 | Transthyretin-stabilising mutation T119M is not associated with protection against vascular disease or death in the UK Biobank | Margaret M. Parker (+7) | 2020 | Amyloid |
| 12410 | Uncovering variable neoplasms between ATM protein-truncating and common missense variants using 394 694 UK Biobank exomes | Xiao Jiang (+6) | 2022 | Genes Chromosomes and Cancer |
| 13439 | Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank | Sheila M. Gaynor (+19) | 2024 | Nature Genetics |
