The Genotype-Tissue Expression (GTEx) Project

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

The GTEx Consortium, Ardlie, K. G., Deluca, D. S., Segrè, A. V., Sullivan, T. J., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Maller, J. B., Tukiainen, T., et al. (2015) · Science · doi:10.1126/science.1262110 · Cited by 5,062

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

Carithers, L. J., Ardlie, K., Barcus, M., Branton, P. A., Britton, A., Buia, S. A., Compton, C. C., DeLuca, D. S., Peter-Demchok, J., Gelfand, E. T., et al. (2015) · Biopreservation and Biobanking · doi:10.1089/bio.2015.0032 · Cited by 833

Family decision maker perspectives on the return of genetic results in biobanking research

Siminoff, L. A., Traino, H. M., Mosavel, M., Barker, L. K., Gudger, G., & Undale, A. H. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.38 · Cited by 36

Times Are Changing: 35 Years of Human Biospecimen Procurements for the National Disease Research Interchange

Bell, T. J., & Leinweber, B. (2015) · Biopreservation and Biobanking · doi:10.1089/bio.2015.29032.tjb · Cited by 6

The gasdermins, a protein family executing cell death and inflammation

Broz, P., Pelegrín, P., & Shao, F. (2020) · Nature Reviews Immunology · doi:10.1038/s41577-019-0228-2 · Cited by 1,641

Cytochrome P450 oxidoreductase contributes to phospholipid peroxidation in ferroptosis

Zou, Y., Li, H., Graham, E. T., Deik, A., Eaton, J. K., Wang, W., Sandoval-Gomez, G., Clish, C. B., Doench, J. G., & Schreiber, S. L. (2020) · Nature Chemical Biology · doi:10.1038/s41589-020-0472-6 · Cited by 753

New functionalities in the TCGAbiolinks package for the study and integration of cancer data from GDC and GTEx

Mounir, M., Lucchetta, M., Silva, T. C., Olsen, C., Bontempi, G., Chen, X., Noushmehr, H., Colaprico, A., & Papaleo, E. (2019) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1006701 · Cited by 535

Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data

arcOGEN Consortium, Tachmazidou, I., Hatzikotoulas, K., Southam, L., Esparza-Gordillo, J., Haberland, V., Zheng, J., Johnson, T., Koprulu, M., Zengini, E., et al. (2019) · Nature Genetics · doi:10.1038/s41588-018-0327-1 · Cited by 516

Determinants of telomere length across human tissues

Demanelis, K., Jasmine, F., Chen, L. S., Chernoff, M., Tong, L., Delgado, D., Zhang, C., Shinkle, J., Sabarinathan, M., Lin, H., et al. (2020) · Science · doi:10.1126/science.aaz6876 · Cited by 515

Misuse of RPKM or TPM normalization when comparing across samples and sequencing protocols

Zhao, S., Ye, Z., & Stanton, R. V. (2020) · RNA · doi:10.1261/rna.074922.120 · Cited by 455

SR-B1: A Unique Multifunctional Receptor for Cholesterol Influx and Efflux

Shen, W., Azhar, S., & Kraemer, F. B. (2017) · Annual Review of Physiology · doi:10.1146/annurev-physiol-021317-121550 · Cited by 421

Camostat mesylate inhibits SARS-CoV-2 activation by TMPRSS2-related proteases and its metabolite GBPA exerts antiviral activity

Hoffmann, M., Hofmann-Winkler, H., Smith, J. C., Krüger, N., Arora, P., Sørensen, L. K., Søgaard, O. S., Hasselstrøm, J. B., Winkler, M., Hempel, T., et al. (2021) · EBioMedicine · doi:10.1016/j.ebiom.2021.103255 · Cited by 397

Contribution of genetics to visceral adiposity and its relation to cardiovascular and metabolic disease

Karlsson, T., Rask‐Andersen, M., Pan, G., Höglund, J., Wadelius, C., Ek, W. E., & Johansson, Å. (2019) · Nature Medicine · doi:10.1038/s41591-019-0563-7 · Cited by 325

HCCDB: A Database of Hepatocellular Carcinoma Expression Atlas

Lian, Q., Wang, S., Zhang, G., Wang, D., Luo, G., Tang, J. P., Chen, L., & Gu, J. (2018) · Genomics Proteomics & Bioinformatics · doi:10.1016/j.gpb.2018.07.003 · Cited by 290

Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History

Liu, S., Huang, S., Chen, F., Zhao, L., Yuan, Y., Francis, S. S., Fang, L., Li, Z., Lin, L., Liu, R., et al. (2018) · Cell · doi:10.1016/j.cell.2018.08.016 · Cited by 279

Artificial intelligence for precision medicine in neurodevelopmental disorders

Uddin, M. J., Wang, Y., & Woodbury‐Smith, M. (2019) · npj Digital Medicine · doi:10.1038/s41746-019-0191-0 · Cited by 261

Initial whole-genome sequencing and analysis of the host genetic contribution to COVID-19 severity and susceptibility

Wang, F., Huang, S., Gao, R., Zhou, Y., Lai, C., Li, Z., Xian, W., Qian, X., Li, Z., Huang, Y., et al. (2020) · Cell Discovery · doi:10.1038/s41421-020-00231-4 · Cited by 228

Defining the Functional Role of NaV1.7 in Human Nociception

McDermott, L., Weir, G. A., Themistocleous, A. C., Segerdahl, A. R., Blesneac, I., Baskozos, G., Clark, A. J., Millar, V., Peck, L. J., Ebner, D. V., et al. (2019) · Neuron · doi:10.1016/j.neuron.2019.01.047 · Cited by 215

Sex differences in genetic architecture in the UK Biobank

Bernabeu, E., Canela-Xandri, O., Rawlik, K., Talenti, A., Prendergast, J., & Tenesa, A. (2021) · Nature Genetics · doi:10.1038/s41588-021-00912-0 · Cited by 157

Genomic Epidemiology of SARS-CoV-2 in the United Arab Emirates Reveals Novel Insights into the Virus Mutation, Co-Infection and Host-Dependent RNA Editing

Liu, R., Wu, P., Ogrodzki, P., Mahmoud, S., Liang, K., Liu, P., Francis, S. S., Khalak, H. G., Liu, D., Li, J., et al. (2020) · Scientific Reports · doi:10.1038/s41598-021-92851-3 · Cited by 204

Eicosanoid signalling blockade protects middle-aged mice from severe COVID-19

Wong, L.-Y. R., Zheng, J., Wilhelmsen, K., Li, K., Ortiz, M. E., Schnicker, N. J., Thurman, A., Pezzulo, A. A., Szachowicz, P. J., Li, P., et al. (2022) · Nature · doi:10.1038/s41586-022-04630-3 · Cited by 178

Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema

Johansson, Å., Rask‐Andersen, M., Karlsson, T., & Ek, W. E. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz175 · Cited by 155

Pharmacogenomics of GLP-1 receptor agonists: a genome-wide analysis of observational data and large randomised controlled trials

Dawed, A. Y., Mari, A., Brown, A. A., McDonald, T. J., Li, L., Wang, S., Hong, M., Sharma, S., Robertson, N. R., Mahajan, A., et al. (2022) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(22)00340-0 · Cited by 147

LncSEA: a platform for long non-coding RNA related sets and enrichment analysis

Chen, J., Zhang, J., Gao, Y., Li, Y., Feng, C., Song, C., Ning, Z., Zhou, X., Zhao, J., Feng, M., et al. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa806 · Cited by 132

A practical view of fine-mapping and gene prioritization in the post-genome-wide association era

Broekema, R., Bakker, O. B., & Jonkers, I. H. (2020) · Open Biology · doi:10.1098/rsob.190221 · Cited by 141

A comprehensive investigation of the mRNA and protein level of ACE2, the putative receptor of SARS-CoV-2, in human tissues and blood cells

Wang, Y., Wang, Y., Luo, W., Huang, L., Xiao, J., Li, F., Qin, S., Song, X., Wu, Y., Zeng, Q., et al. (2020) · International Journal of Medical Sciences · doi:10.7150/ijms.46695 · Cited by 134

A comprehensive proteogenomic pipeline for neoantigen discovery to advance personalized cancer immunotherapy

Huber, F., Arnaud, M., Stevenson, B. J., Michaux, J., Benedetti, F., Thévenet, J., Bobisse, S., Chiffelle, J., Gehert, T., Müller, M., et al. (2024) · Nature Biotechnology · doi:10.1038/s41587-024-02420-y · Cited by 145

Promoter-interacting expression quantitative trait loci are enriched for functional genetic variants

Chandra, V., Bhattacharyya, S., Schmiedel, B. J., Madrigal, A., Gonzalez-Colin, C., Fotsing, S., Crinklaw, A., Seumois, G., Mohammadi, P., Kronenberg, M., et al. (2021) · Nature Genetics · doi:10.1038/s41588-020-00745-3 · Cited by 122

Leveraging Multilayered “Omics” Data for Atopic Dermatitis: A Road Map to Precision Medicine

Ghosh, D., Bernstein, J. A., Hershey, G. K. K., Rothenberg, M. E., & Baye, T. M. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.02727 · Cited by 122

Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes

Pazoki, R., Vujković, M., Elliott, J., Εvangelou, Ε., Gill, D., Ghanbari, M., van der Most, P. J., Pinto, R. C., Wielscher, M., Farlik, M., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-22338-2 · Cited by 116

TissGDB: tissue-specific gene database in cancer

Kim, P., Park, A., Han, G., Sun, H., Jia, P., & Zhao, Z. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx850 · Cited by 102

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

Justice, A. E., Karaderi, T., Highland, H. M., Young, K. L., Graff, M., Lu, Y., Turcot, V., Auer, P. L., Fine, R. S., Guo, X., et al. (2019) · Nature Genetics · doi:10.1038/s41588-018-0334-2 · Cited by 101

Global Spread of SARS-CoV-2 Subtype with Spike Protein Mutation D614G is Shaped by Human Genomic Variations that Regulate Expression of TMPRSS2 and MX1 GenesPreprint

Bhattacharyya, C., Das, C., Ghosh, A., Singh, A. K., Mukherjee, S., Majumder, P. P., Basu, A., & Biswas, N. K. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.05.04.075911 · Cited by 106

Association of angiotensin-converting enzyme 2 gene polymorphism and enzymatic activity with essential hypertension in different gender

Zhang, Q., Cong, M., Wang, N., Li, X., Zhang, H., Zhang, K., Jin, M., Wu, N., Qiu, C., & Li, J. (2018) · Medicine · doi:10.1097/md.0000000000012917 · Cited by 96

Genome-wide Association Study of Estradiol Levels and the Causal Effect of Estradiol on Bone Mineral Density

Schmitz, D., Ek, W. E., Berggren, E., Höglund, J., Karlsson, T., & Johansson, Å. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab507 · Cited by 94

Statistical methods for SNP heritability estimation and partition: A review

Zhu, H., & Zhou, X. (2020) · Computational and Structural Biotechnology Journal · doi:10.1016/j.csbj.2020.06.011 · Cited by 103

Cancer biology as revealed by the research autopsy

Iacobuzio–Donahue, C. A., Michael, C., Baez, P., Kappagantula, R. L., Hooper, J. E., & Hollman, T. J. (2019) · Nature reviews. Cancer · doi:10.1038/s41568-019-0199-4 · Cited by 89

HKDC1 Is a Novel Hexokinase Involved in Whole-Body Glucose Use

Ludvik, A. E., Pusec, C. M., Priyadarshini, M., Angueira, A. R., Guo, C., Lo, A., Hershenhouse, K. S., Yang, G., Ding, X., Reddy, T. E., et al. (2016) · Endocrinology · doi:10.1210/en.2016-1288 · Cited by 86

Molecular and phenotypic analysis of rodent models reveals conserved and species-specific modulators of human sarcopenia

Börsch, A., Ham, D. J., Mittal, N., Tintignac, L. A., Migliavacca, E., Feige, J. N., Rüegg, M. A., & Zavolan, M. (2021) · Communications Biology · doi:10.1038/s42003-021-01723-z · Cited by 85

Comprehensive palmitoyl‐proteomic analysis identifies distinct protein signatures for large and small cancer‐derived extracellular vesicles

Mariscal, J., Vagner, T., Kim, M., Zhou, B. O., Chin, A. R., Zandian, M., Freeman, M. R., You, S., Zijlstra, A., Yang, W., et al. (2020) · Journal of Extracellular Vesicles · doi:10.1080/20013078.2020.1764192 · Cited by 85

Highly Accurate Estimation of Cell Type Abundance in Bulk Tissues Based on Single‐Cell Reference and Domain Adaptive Matching

Guo, X., Huang, Z., Ju, F., Zhao, C., & Yu, L. (2023) · Advanced Science · doi:10.1002/advs.202306329 · Cited by 82

Knowledge synthesis of 100 million biomedical documents augments the deep expression profiling of coronavirus receptors

Venkatakrishnan, A., Puranik, A., Anand, A., Zemmour, D., Yao, X., Wu, X., Chilaka, R., Murakowski, D. K., Standish, K., Raghunathan, B., et al. (2020) · eLife · doi:10.7554/elife.58040 · Cited by 80

Structure of Furin Protease Binding to SARS-CoV-2 Spike Glycoprotein and Implications for Potential Targets and Virulence

Vankadari, N. (2020) · The Journal of Physical Chemistry Letters · doi:10.1021/acs.jpclett.0c01698 · Cited by 78

Bioinformatics for precision oncology

Singer, J., Irmisch, A., Ruscheweyh, H., Singer, F., Toussaint, N. C., Levesque, M. P., Stekhoven, D. J., & Beerenwinkel, N. (2017) · Briefings in Bioinformatics · doi:10.1093/bib/bbx143 · Cited by 81

TMEM16A controls EGF-induced calcium signaling implicated in pancreatic cancer prognosis

Crottès, D., Lin, Y.-H. T., Peters, C. J., Gilchrist, J. M., Wiita, A. P., Jan, Y. N., & Jan, L. Y. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1900703116 · Cited by 75

The Clinical Kinase Index: A Method to Prioritize Understudied Kinases as Drug Targets for the Treatment of Cancer

Essegian, D. J., Khurana, R., Stathias, V., & Schürer, S. C. (2020) · Cell Reports Medicine · doi:10.1016/j.xcrm.2020.100128 · Cited by 74

Drug repurposing for viral cancers: A paradigm of machine learning, deep learning, and virtual screening‐based approaches

Ahmed, F., Kang, I. S., Kim, K. H., Asif, A., Rahim, C. S. A., Samantasinghar, A., Memon, F. H., & Choi, K. H. (2023) · Journal of Medical Virology · doi:10.1002/jmv.28693 · Cited by 75

Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome

Mitz, A. R., Philyaw, T. J., Boccuto, L., Shcheglovitov, A., Sarasua, S. M., Kaufmann, W. E., & Thurm, A. E. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-017-0042-x · Cited by 72

Clinically Relevant Circulating Protein Biomarkers for Type 1 Diabetes: Evidence From a Two-Sample Mendelian Randomization Study

Yazdanpanah, N., Yazdanpanah, M., Wang, Y., Forgetta, V., Pollak, M., Polychronakos, C., Richards, J. B., & Manousaki, D. (2021) · Diabetes Care · doi:10.2337/dc21-1049 · Cited by 67

Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans

Zhao, G., Li, K., Li, B., Wang, Z., Fang, Z., Wang, X., Zhang, Y., Luo, T., Zhou, Q., Wang, L., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz923 · Cited by 64

ATACdb: a comprehensive human chromatin accessibility database

Wang, F., Bai, X., Wang, Y., Jiang, Y., Ai, B., Zhang, Y., Liu, Y., Xu, M., Wang, Q., Han, X., et al. (2020) · Nucleic Acids Research · doi:10.1093/nar/gkaa943 · Cited by 66

Integration of metabolomics, genomics, and immune phenotypes reveals the causal roles of metabolites in disease

Chu, X., Jaeger, M., Beumer, J., Bakker, O. B., Aguirre‐Gamboa, R., Oosting, M., Smeekens, S. P., Moorlag, S. J. C. F. M., Mourits, V. P., Koeken, V. A. C. M., et al. (2021) · Genome biology · doi:10.1186/s13059-021-02413-z · Cited by 64

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

Wang, J., Rousseau, J., Kim, E., Ehresmann, S., Cheng, Y.-T., Duraine, L., Zuo, Z., Park, Y.-J., Li‐Kroeger, D., Bi, W., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.11.002 · Cited by 63

Genetic variants underlying differences in facial morphology in East Asian and European populations

Zhang, M., Wu, S., Du, S., Qian, W., Chen, J., Qiao, L., Yang, Y., Tan, J., Yuan, Z., Peng, Q., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01038-7 · Cited by 67

Combined analysis of keratinocyte cancers identifies novel genome-wide loci

Liyanage, U. E., Law, M. H., Han, X., An, J., Ong, J., Gharahkhani, P., Gordon, S. D., Neale, R. Ε., Olsen, C. M., MacGregor, S., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz121 · Cited by 63

Germline Features Associated with Immune Infiltration in Solid Tumors

Shahamatdar, S., He, M. X., Reyna, M. A., Gusev, A., AlDubayan, S. H., Allen, E. M. V., & Ramachandran, S. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.02.039 · Cited by 61

Genome-wide association analysis of pain severity in dysmenorrhea identifies association at chromosome 1p13.2, near the nerve growth factor locus

Jones, A. V., Hockley, J. R. F., Hyde, C. L., Gorman, D. N., Sredic-Rhodes, A., Bilsland, J., McMurray, G., Furlotte, N. A., Hu, Y., Hinds, D. A., et al. (2016) · Pain · doi:10.1097/j.pain.0000000000000678 · Cited by 65

A New Era for Space Life Science: International Standards for Space Omics Processing

Rutter, L. A., Barker, R. J., Bezdan, D., Cope, H., Costes, S. V., Degoricija, L., Fisch, K. M., Gabitto, M. I., Gebre, S., Giacomello, S., et al. (2020) · Patterns · doi:10.1016/j.patter.2020.100148 · Cited by 69

Pyroptosis of syncytia formed by fusion of SARS-CoV-2 spike and ACE2-expressing cells

Ma, H., Zhu, Z., Lin, H., Wang, S., Zhang, P., Li, Y., Li, L., Wang, J., Zhao, Y., & Han, J. (2021) · Cell Discovery · doi:10.1038/s41421-021-00310-0 · Cited by 61

The Biology and Genomics of Human Hair Follicles: A Focus on Androgenetic Alopecia

Durán, R. C., Martínez-Ledesma, E., Garcia-Garcia, M., Gauzin, D. B., Sarro-Ramírez, A., Gonzalez-Carrillo, C., Rodríguez-Sardin, D., Fuentes, A., & Cárdenas-Lopez, A. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25052542 · Cited by 65

A role forTENM1mutations in congenital general anosmia

Alkelai, A., Olender, T., Haffner‐Krausz, R., Tsoory, M., Boyko, V., Tatarskyy, P., Gross‐Isseroff, R., Milgrom, R., Shushan, S., Blau, I., et al. (2016) · Clinical Genetics · doi:10.1111/cge.12782 · Cited by 60

Systematic Mendelian randomization framework elucidates hundreds of CpG sites which may mediate the influence of genetic variants on disease

Richardson, T. G., Haycock, P., Zheng, J., Timpson, N. J., Gaunt, T. R., Smith, G. D., Relton, C. L., & Hemani, G. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy210 · Cited by 57

Aldehyde dehydrogenase 1 (ALDH1) isoform expression and potential clinical implications in hepatocellular carcinoma

Yang, C., Wang, X., Liao, X., Han, C., Yu, T., Qin, W., Zhu, G., Su, H., Yu, L., Liu, X., et al. (2017) · PLoS ONE · doi:10.1371/journal.pone.0182208 · Cited by 60

Genome-Wide Pharmacogenomic Study on Methadone Maintenance Treatment Identifies SNP rs17180299 and Multiple Haplotypes on CYP2B6, SPON1, and GSG1L Associated with Plasma Concentrations of Methadone R- and S-enantiomers in Heroin-Dependent Patients

Yang, H., Chu, S., Huang, C.-L., Kuo, H., Wang, S.-C., Liu, S.-W., Ho, I.-K., & Liu, Y. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1005910 · Cited by 55

A common missense variant of LILRB5 is associated with statin intolerance and myalgia

Siddiqui, M. K., Maroteau, C., Veluchamy, A., Tornio, A., Tavendale, R., Carr, F., Abelega, N.-U., Carr, D. F., Bloch, K. M., Hallberg, P., et al. (2017) · European Heart Journal · doi:10.1093/eurheartj/ehx467 · Cited by 56

Identifying noncoding risk variants using disease-relevant gene regulatory networks

Gao, L., Uzun, Y., Gao, P., He, B., Ma, X., Wang, J., Han, S., & Tan, K. (2018) · Nature Communications · doi:10.1038/s41467-018-03133-y · Cited by 55

A Scalable Bayesian Method for Integrating Functional Information in Genome-wide Association Studies

Yang, J., Fritsche, L. G., Zhou, X., & Abecasis, G. R. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.08.002 · Cited by 56

METTL14 Gene Polymorphisms Confer Neuroblastoma Susceptibility: An Eight-Center Case-Control Study

Zhuo, Z., Lu, H., Zhu, J., Hua, R., Li, Y., Yang, Z., Zhang, J., Cheng, J., Zhou, H., Li, S., et al. (2020) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2020.08.009 · Cited by 55

Genome-wide association study of obstructive sleep apnoea in the Million Veteran Program uncovers genetic heterogeneity by sex

Sofer, T., Kurniansyah, N., Murray, M., Ho, Y.-L. A., Abner, E., Esko, T., Metspalu, A., Milani, L. A., Esko, T., Mägi, R., et al. (2023) · EBioMedicine · doi:10.1016/j.ebiom.2023.104536 · Cited by 52

Variant rs8400 enhances ALKBH5 expression through disrupting miR-186 binding and promotes neuroblastoma progression

Guan, Q., Lin, H., Hua, W., Lin, L., Liu, J., Deng, L., Zhang, J., Cheng, J., Yang, Z., Li, Y., et al. (2023) · Chinese Journal of Cancer Research · doi:10.21147/j.issn.1000-9604.2023.02.05 · Cited by 53

Sex-specific genetic architecture of blood pressure

Yang, M., Xu, C., Gupte, T. P., Hoffmann, T. J., Iribarren, C., Zhou, X., & Ganesh, S. K. (2024) · Nature Medicine · doi:10.1038/s41591-024-02858-2 · Cited by 56

Common pitfalls in drug target Mendelian randomization and how to avoid them

Gill, D., Dib, M., Cronjé, H. T., Karhunen, V., Woolf, B. A. R., Gagnon, É., Daghlas, I., Nyberg, M., Drakeman, D. L., & Burgess, S. (2024) · BMC Medicine · doi:10.1186/s12916-024-03700-9 · Cited by 51

Pancancer transcriptomic profiling identifies key PANoptosis markers as therapeutic targets for oncology

Mall, R., Bynigeri, R. R., Karki, R., Malireddi, R. K. S., Sharma, B. R., & Kanneganti, T. (2022) · NAR Cancer · doi:10.1093/narcan/zcac033 · Cited by 55

Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders

Devanna, P., Chen, X., Ho, J., Gajewski, D., Smith, S. D., Gialluisi, A., Francks, C., Fisher, S. E., Newbury, D. F., & Vernes, S. C. (2017) · Molecular Psychiatry · doi:10.1038/mp.2017.30 · Cited by 52

Using genetic drug-target networks to develop new drug hypotheses for major depressive disorder

Gaspar, H. A., Gerring, Z. F., Hübel, C., Middeldorp, C. M., Derks, E. M., & Breen, G. D. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0451-4 · Cited by 50

Landscape of cancer diagnostic biomarkers from specifically expressed genes

Lv, Y., Lin, S., Hu, F., Ye, Z., Zhang, Q., Wang, Y., & Guo, A. (2019) · Briefings in Bioinformatics · doi:10.1093/bib/bbz131 · Cited by 52

GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits

Pazoki, R., Εvangelou, Ε., Mosén-Ansorena, D., Pinto, R. C., Karaman, İ., Blakeley, P., Gill, D., Zuber, V., Elliott, P., Tzoulaki, I., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-11451-y · Cited by 49

Developing targeted therapies for neuroblastoma by dissecting the effects of metabolic reprogramming on tumor microenvironments and progression

Jin, W., Zhang, Y., Zhao, Z., & Gao, M. (2024) · Theranostics · doi:10.7150/thno.93962 · Cited by 50

Generating and evaluating synthetic data in digital pathology through diffusion models

Pozzi, M., Noei, S., Robbi, E., Cima, L., Moroni, M., Munari, E., Torresani, E., & Jurman, G. (2024) · Scientific Reports · doi:10.1038/s41598-024-79602-w · Cited by 56

Mechanisms of immunogenicity in colorectal cancer

Sillo, T. O., Beggs, A. D., Morton, D. G., & Middleton, G. (2019) · British journal of surgery · doi:10.1002/bjs.11204 · Cited by 49

Multiple Expression Assessments of ACE2 and TMPRSS2 SARS-CoV-2 Entry Molecules in the Urinary Tract and Their Associations with Clinical Manifestations of COVID-19

Ren, X., Wei, X., Li, G., Ren, S., Chen, X., Zhang, T., Zhang, T., Lu, Z., Lü, Z., Wang, S., et al. (2020) · Infection and Drug Resistance · doi:10.2147/idr.s270543 · Cited by 46

Genetic variants at the 16p13 locus confer risk for eosinophilic esophagitis

Kottyan, L. C., Maddox, A., Braxton, J. R., Stucke, E. M., Mukkada, V. A., Putnam, P. E., Abonia, J. P., Chehade, M., Wood, R. A., Pesek, R., et al. (2018) · Genes and Immunity · doi:10.1038/s41435-018-0034-z · Cited by 45

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Wallace, A. D., Wendt, G. A., Barcellos, L. F., de Smith, A. J., Walsh, K. M., Metayer, C., Costello, J., Wiemels, J. L., & Francis, S. S. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00298 · Cited by 49

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Carithers, L. J., Agarwal, R., Guan, P., Odeh, H., Sachs, M. C., Engel, K. B., Greytak, S. R., Barcus, M. E., Soria, C. T., Lih, C., et al. (2019) · Archives of Pathology & Laboratory Medicine · doi:10.5858/arpa.2018-0172-oa · Cited by 45

DNMT1 maintains metabolic fitness of adipocytes through acting as an epigenetic safeguard of mitochondrial dynamics

Park, Y. J., Lee, S., Lim, S., Nahmgoong, H., Ji, Y., Huh, J. Y., Alfadda, A. A., Kim, S., & Kim, J. B. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2021073118 · Cited by 44

Recurrence- and Malignant Progression-Associated Biomarkers in Low-Grade Gliomas and Their Roles in Immunotherapy

Teng, C., Zhu, Y., Li, Y., Dai, L., Pan, Z., Wanggou, S., & Li, X. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.899710 · Cited by 43

Single-Cell Discovery and Multiomic Characterization of Therapeutic Targets in Multiple Myeloma

Yao, L., Wang, J. T., Jayasinghe, R. G., O’Neal, J., Tsai, C., Rettig, M. P., Song, Y., Liu, R., Zhao, Y., Ibrahim, O. M., et al. (2023) · Cancer Research · doi:10.1158/0008-5472.can-22-1769 · Cited by 41

The genetics revolution in rheumatology: large scale genomic arrays and genetic mapping

Eyre, S., Orozco, G., & Worthington, J. (2017) · Nature Reviews Rheumatology · doi:10.1038/nrrheum.2017.80 · Cited by 40

ASCancer Atlas: a comprehensive knowledgebase of alternative splicing in human cancers

Wu, S., Huang, Y., Zhang, M., Gong, Z., Wang, G., Zheng, X., Zong, W., Zhao, W., Xing, P., Li, R., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac955 · Cited by 41

Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity

Schmidt, A. F., Bourfiss, M., Alasiri, A., Anton, E. P., Chopade, S., van Vugt, M., van der Laan, S. W., Groß, C., Clarkson, C., Henry, A., et al. (2023) · Science Advances · doi:10.1126/sciadv.add4984 · Cited by 43

Distinct signatures of lung cancer types: aberrant mucin O-glycosylation and compromised immune response

Lucchetta, M., da Piedade, I., Mounir, M., Vabistsevits, M., Terkelsen, T., & Papaleo, E. (2019) · BMC Cancer · doi:10.1186/s12885-019-5965-x · Cited by 41

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Stevens, M. L., Zhang, Z., Johansson, E., Ray, S., Jagpal, A., Ruff, B. P., Kothari, A., He, H., Martin, L. J., Ji, H., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17895-x · Cited by 41

Dynamic changes in copper homeostasis and post-transcriptional regulation ofAtp7aduring myogenic differentiation

Vest, K. E., Paskavitz, A. L., Lee, J. B., & Padilla‐Benavides, T. (2018) · Metallomics · doi:10.1039/c7mt00324b · Cited by 40

Druggable genome in attention deficit/hyperactivity disorder and its co-morbid conditions. New avenues for treatment

Hegvik, T., Waløen, K., Pandey, S. K., Faraone, S. V., Haavik, J., & Zayats, T. (2019) · Molecular Psychiatry · doi:10.1038/s41380-019-0540-z · Cited by 39

Integrating Mendelian randomization and multiple-trait colocalization to uncover cell-specific inflammatory drivers of autoimmune and atopic disease

McGowan, L. M., Smith, G. D., Gaunt, T. R., & Richardson, T. G. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz155 · Cited by 40

Transcriptome profiling of the liver among the prenatal and postnatal stages in chickens

Xu, E., Zhang, L., Yang, H., Shen, L.-L., Feng, Y., Ren, M.-M., & Xiao, Y.-P. (2019) · Poultry Science · doi:10.3382/ps/pez434 · Cited by 33

Circular PVT1 regulates cell proliferation and invasion via miR-149-5p/FOXM1 axis in ovarian cancer

Li, M., Chi, C., Zhou, L., Chen, Y., & Tang, X. (2020) · Journal of Cancer · doi:10.7150/jca.52234 · Cited by 38

Multi-ethnic GWAS and fine-mapping of glycaemic traits identify novel loci in the PAGE Study

Downie, C. G., Dimos, S. F., Bien, S. A., Hu, Y., Darst, B. F., Polfus, L. M., Wang, Y., Wojcik, G. L., Tao, R., Raffield, L. M., et al. (2021) · Diabetologia · doi:10.1007/s00125-021-05635-9 · Cited by 39

Molecular Genetics of Abnormal Redox Homeostasis in Type 2 Diabetes Mellitus

Azarova, I. E., Polonikov, A., & Klyosova, E. Y. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24054738 · Cited by 39

Cystatin C is glucocorticoid responsive, directs recruitment of Trem2+ macrophages, and predicts failure of cancer immunotherapy

Kleeman, S. O., Thakir, T. M., Demestichas, B., Mourikis, N., Loiero, D., Ferrer, M., Bankier, S., Riazat-Kesh, Y. J. R. A., Lee, H., Chantzichristos, D., et al. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100347 · Cited by 37

Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect

Shaaban, S., MacKinnon, S. E., Andrews, C. V., Staffieri, S. E., Maconachie, G. D. E., Chan, W. M., Whitman, M. C., Morton, S. U., Yazar, S., MacGregor, S., et al. (2018) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.18-24082 · Cited by 36

Ribo-uORF: a comprehensive data resource of upstream open reading frames (uORFs) based on ribosome profiling

Liu, Q., Peng, X., Shen, M., Qian, Q., Xing, J., Li, C., & Gregory, R. I. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac1094 · Cited by 41

Genome-wide association study of hospitalized COVID-19 patients in the United Arab Emirates

Mousa, M., Vurivi, H., Kannout, H., Uddin, M., Kaabi, N. A., Mahboub, B. H., Tay, G. K., & AlSafar, H. S. (2021) · EBioMedicine · doi:10.1016/j.ebiom.2021.103695 · Cited by 37

Advances in Lung Cancer Driver Genes Associated With Brain Metastasis

Kang, Y., Jin, Y. T., Li, Q., & Yuan, X. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2020.606300 · Cited by 37

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Kwon, D. (2017) · Inside Precision Medicine · doi:10.1089/clinomi.04.06.19

Taking genomics research to the next level: The Genotype‐Tissue expression project

Wohlers, I., & Bertram, L. (2018) · Movement Disorders · doi:10.1002/mds.27445 · Cited by 2

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El código de la regulación genética

Ward, M. C. (2018) · Dialnet (Universidad de la Rioja) · Cited by 1

Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans

GTEx Consortium (2015) · Archive ouverte UNIGE (University of Geneva) · Cited by 3