The Human Phenome Project

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Molecular classification of cancer: class discovery and class prediction by gene expression monitoring

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Classification And Regression Trees

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Density Estimation for Statistics and Data Analysis

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Minimum information about a microarray experiment (MIAME)-toward standards for microarray data

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A probabilistic atlas and reference system for the human brain: International Consortium for Brain Mapping (ICBM)

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A Registration and Deep Learning Approach to Automated Landmark Detection for Geometric Morphometrics

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The Rat Genome Database (RGD): developments towards a phenome database

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Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid

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Genome-wide pleiotropy of osteoporosis-related phenotypes: The framingham study

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High-Content Screening with siRNA Optimizes a Cell Biological Approach to Drug Discovery: Defining the Role of P53 Activation in the Cellular Response to Anticancer Drugs

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Challenges in phenotype definition in the whole-genome era: multivariate models of memory and intelligence

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Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery

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Analysis and validation of automated skull stripping tools: A validation study based on 296 MR images from the Honolulu Asia aging study

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Phenotypes and Disease Characterization in Chronic Obstructive Pulmonary Disease. Toward the Extinction of Phenotypes?

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Genetic and physiological insights into the metabolic syndrome

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dRiskKB: a large-scale disease-disease risk relationship knowledge base constructed from biomedical text

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DNA, diseases and databases: disastrously deficient

Patrinos, G. P., & BROOKES, A. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.04.004 · Cited by 54

A simple developmental model recapitulates complex insect wing venation patterns

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Why genetic investigation of psychiatric disorders is so difficult

Bearden, C. E., Reus, V. I., & Freimer, N. B. (2004) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2004.04.005 · Cited by 53

Mouse Phenome Project: understanding human biology through mouse genetics and genomics

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Case-control studies in the genomic era: a clinician's guide

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Mining phenotypes for gene function prediction

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Opportunities and Challenges in the Genetics of COPD 2010: An International COPD Genetics Conference Report

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After the genome—the phenome?

Scriver, C. R. (2004) · Journal of Inherited Metabolic Disease · doi:10.1023/b:boli.0000031100.26546.6e · Cited by 51

Phenomics: Expanding the Role of Clinical Evaluation in Genomic Studies

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The digital revolution in phenotyping

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Phenomics: conceptualization and importance for plant physiology

Zavafer, A., Bates, H., Mancilla, C., & Ralph, P. J. (2023) · Trends in Plant Science · doi:10.1016/j.tplants.2023.03.023 · Cited by 49

The synergy of artificial intelligence and personalized medicine for the enhanced diagnosis, treatment, and prevention of disease

Zahra, M. A., Al-Taher, A. Y., Alquhaidan, M., Hussain, T., Ismail, I., Raya, I., & Kandeel, M. K. (2024) · Drug Metabolism and Personalized Therapy · doi:10.1515/dmpt-2024-0003 · Cited by 51

Physiogenomic resources for rat models of heart, lung and blood disorders

Malek, R. L., Wang, H.-Y., Kwitek, A. E., Greene, A. S., BHAGABATI, N. K., Borchardt, G. J., Cahill, L., Currier, T., Frank, B. C., Fu, X., et al. (2006) · Nature Genetics · doi:10.1038/ng1693 · Cited by 47

A phenome-guided drug repositioning through a latent variable model

Bişğin, H., Liu, Z., Fang, H., Kelly, R. J., Xu, X., & Tong, W. (2014) · BMC Bioinformatics · doi:10.1186/1471-2105-15-267 · Cited by 50

Avoiding confusion in COPD: from risk factors to phenotypes to measures of disease characterisation: Table 1–

Agustí, A. G. N., & Celli, B. R. (2011) · European Respiratory Journal · doi:10.1183/09031936.00062211 · Cited by 48

Sequencing strategies and characterization of 721 vervet monkey genomes for future genetic analyses of medically relevant traits

Huang, Y. S., Ramensky, V., Service, S. K., Jasinska, A. J., Jung, Y., Choi, O.-W., Cantor, R. M., Juretic, N., Wasserscheid, J., Kaplan, J. R., et al. (2015) · BMC Biology · doi:10.1186/s12915-015-0152-2 · Cited by 47

Phenotype ontologies for mouse and man: bridging the semantic gap

Schofield, P. N., Gkoutos, G. V., Gruenberger, M., Sundberg, J. P., & Hancock, J. M. (2010) · Disease Models & Mechanisms · doi:10.1242/dmm.002790 · Cited by 46

The Ultimate Model Organism

Butte, A. J. (2008) · Science · doi:10.1126/science.1158343 · Cited by 46

The Analytic Information Warehouse (AIW): A platform for analytics using electronic health record data

Post, A. R., Kurç, T., Cholleti, S. R., Gao, J., Lin, X., Bornstein, W. A., Cantrell, D., Levine, D., Hohmann, S., & Saltz, J. H. (2013) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2013.01.005 · Cited by 47

Network-based Phenome-Genome Association Prediction by Bi-Random Walk

Xie, M., Xu, Y., Zhang, Y., Hwang, T., & Kuang, R. (2015) · PLoS ONE · doi:10.1371/journal.pone.0125138 · Cited by 46

Genotype–phenotype correlations in laminopathies: how does fate translate?

Scharner, J., Gnocchi, V. F., Ellis, J. A., & Zammit, P. S. (2010) · Biochemical Society Transactions · doi:10.1042/bst0380257 · Cited by 46

Real Time QTL of complex phenotypes in tomato interspecific introgression lines

Gur, A., Semel, Y., Cahaner, A., & Zamir, D. (2004) · Trends in Plant Science · doi:10.1016/j.tplants.2004.01.003 · Cited by 46

A cognitive phenotype for a polymorphism in the nicotinic receptor gene CHRNA4

Greenwood, P. M., Parasuraman, R., & Espeseth, T. (2012) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2012.02.010 · Cited by 50

The Biological Coherence of Human Phenome Databases

Oti, M., Huynen, M. A., & Brunner, H. G. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.10.026 · Cited by 45

Development and significance of automated history‐taking software for clinical medicine, clinical research and basic medical science

Zakim, D. (2016) · Journal of Internal Medicine · doi:10.1111/joim.12509 · Cited by 43

Phenomics of Cardiac Chloride Channels

Duan, D. D. (2013) · Comprehensive physiology · doi:10.1002/cphy.c110014 · Cited by 49

Quartet protein reference materials and datasets for multi-platform assessment of label-free proteomics

Tian, S., Zhan, D., Yu, Y., Wang, Y., Liu, M., Tan, S., Li, Y., Song, L., Qin, Z., Li, X., et al. (2023) · Genome Biology · doi:10.1186/s13059-023-03048-y · Cited by 43

Evaluating endophenotypes for bipolar disorder

Guglielmo, R., Miskowiak, K. W., & Hasler, G. (2021) · International Journal of Bipolar Disorders · doi:10.1186/s40345-021-00220-w · Cited by 46

Selection of extreme phenotypes: the role of clinical observation in translational research

Perez‐Gracia, J. L., Gúrpide, A., Ruiz-Ilundáin, M. G., Alegría, C. A., Colomer, R., García‐Foncillas, J., & Melero, I. (2010) · Clinical & Translational Oncology · doi:10.1007/s12094-010-0487-7 · Cited by 45

Contribution of Serotonin Transporter Gene Polymorphisms to Pediatric Migraine

Szilágyi, Á., Boór, K., Orosz, I., Szántai, E., Székely, A., Kalász, H., Sasvári‐Székely, M., & Farkas, V. (2006) · Headache The Journal of Head and Face Pain · doi:10.1111/j.1526-4610.2006.00379.x · Cited by 43

The Future of Genetics and Genomics

MacRae, C. A., & Vasan, R. S. (2016) · Circulation · doi:10.1161/circulationaha.116.022547 · Cited by 42

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort

Galván‐Femenía, I., Obón‐Santacana, M., Piñeyro, D., Guindo-Martínez, M., Duran, X., Carreras, A., Pluvinet, R., Velasco, J., Ramos, L., Aussó, S., et al. (2018) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105437 · Cited by 43

Revealing Complex Traits with Small Molecules and Naturally Recombinant Yeast Strains

Perlstein, E. O., Ruderfer, D. M., Ramachandran, G., Haggarty, S. J., Kruglyak, L., & Schreiber, S. L. (2006) · Chemistry & Biology · doi:10.1016/j.chembiol.2006.01.010 · Cited by 42

BN phenome: detailed characterization of the cardiovascular, renal, and pulmonary systems of the sequenced rat

Kwitek, A. E., Jacob, H. J., Baker, J. E., Dwinell, M. R., Forster, H. V., Greene, A. S., Kunert, M. P., Lombard, J. H., Mattson, D. L., Pritchard, K. A., et al. (2006) · Physiological Genomics · doi:10.1152/physiolgenomics.00288.2005 · Cited by 42

Detecting multiple associations in genome-wide studies

Dudbridge, F., Gusnanto, A., & Koeleman, B. P. C. (2006) · Human Genomics · doi:10.1186/1479-7364-2-5-310 · Cited by 42

Transfer learning across ontologies for phenome–genome association prediction

Petegrosso, R., Park, S., Hwang, T. H., & Kuang, R. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw649 · Cited by 41

Developments of geriatric autopsy database and Internet-based database of Japanese single nucleotide polymorphisms for geriatric research (JG-SNP)

Sawabe, M., Arai, T., Kasahara, I., Esaki, Y., Nakahara, K., Hosoi, T., Orimo, H., Takubo, K., Murayama, S., & Tanaka, N. (2004) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2004.06.005 · Cited by 41

Translating pharmacogenetics and pharmacogenomics into drug development for clinical pediatrics and beyond

Leeder, J. S. (2004) · Drug Discovery Today · doi:10.1016/s1359-6446(04)03129-0 · Cited by 41

Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia–hyperammonemia–homocitrullinuria syndrome, a urea cycle disorder

Camacho, J. A., Rioseco‐Camacho, N., Andrade, D., Porter, J., & Kong, J. (2003) · Molecular Genetics and Metabolism · doi:10.1016/s1096-7192(03)00105-7 · Cited by 40

Methods of high-throughput plant phenotyping for large-scale breeding and genetic experiments

Afonnikov, D. A., Александрович, Г. М., Doroshkov, A. V., Komyshev, E. G., & Пшеничникова, Т. А. (2016) · Russian Journal of Genetics · doi:10.1134/s1022795416070024 · Cited by 40

Genetic architecture of quantitative traits and complex diseases

Fu, W., O’Connor, T. D., & Akey, J. M. (2013) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.10.008 · Cited by 40

The search for genenotype/phenotype associations and the phenome scan

Jones, R. W., Pembrey, M. E., Golding, J., & Herrick, D. (2005) · Paediatric and Perinatal Epidemiology · doi:10.1111/j.1365-3016.2005.00664.x · Cited by 38

New Frontiers for Organismal Biology

Kültz, D., Clayton, D. F., Robinson, G. E., Albertson, R. C., Carey, H. V., Cummings, M. E., Dewar, K., Edwards, S. V., Hofmann, H. A., Gross, L. J., et al. (2013) · BioScience · doi:10.1525/bio.2013.63.6.8 · Cited by 39

Phenomics, Lipodystrophy, and the Metabolic Syndrome

Hegele, R. A. (2004) · Trends in Cardiovascular Medicine · doi:10.1016/j.tcm.2004.02.001 · Cited by 36

Expression genetics and the phenotype revolution

Williams, R. W. (2006) · Mammalian Genome · doi:10.1007/s00335-006-0006-x · Cited by 37

Limits to growth: why neuroscience needs large-scale science

Insel, T. R., Volkow, N. D., Landis, S. C., Li, T., Battey, J. F., & Sieving, P. A. (2004) · Nature Neuroscience · doi:10.1038/nn0504-426 · Cited by 38

Three‐dimensional analysis of facial shape and symmetry in twins using laser surface scanning

Djordjevic, J., Jadallah, M., Zhurov, A. I., Toma, A. M., & Richmond, S. (2012) · Orthodontics and Craniofacial Research · doi:10.1111/ocr.12012 · Cited by 37

Fishing forward and reverse: Advances in zebrafish phenomics

Fuentes, R., Letelier, J., Tajer, B. J., Valdivia, L. E., & Mullins, M. C. (2018) · Mechanisms of Development · doi:10.1016/j.mod.2018.08.007 · Cited by 38

The Avon Longitudinal Study of Parents and Children (ALSPAC): a resource for genetic epidemiology

Pembrey, M. E. (2004) · European Journal of Endocrinology · doi:10.1530/eje.0.151u125 · Cited by 37

Multilevel models from biology to psychology: Mission impossible?

Bilder, R. M., Howe, A. G., & Sabb, F. W. (2013) · Journal of Abnormal Psychology · doi:10.1037/a0032263 · Cited by 37

The potential role for emergence in autism

Anderson, G. M. (2008) · Autism Research · doi:10.1002/aur.2 · Cited by 43

Finding genes in child psychology and psychiatry: When are we going to be there?

Plomin, R. J. (2005) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2005.01524.x · Cited by 36

Next-Generation Genome-Wide Association Studies

MacRae, C. A., & Vasan, R. S. (2011) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.111.960765 · Cited by 36

eRAM: encyclopedia of rare disease annotations for precision medicine

Jia, J., An, Z., Ming, Y., Guo, Y., Li, W., Liang, Y., Guo, D., Li, X., Tai, J., Chen, G., et al. (2018) · Nucleic Acids Research · doi:10.1093/nar/gkx1062 · Cited by 35

The investigation of asthma phenotypes

Siroux, V., & García‐Aymerich, J. (2011) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0b013e32834a955a · Cited by 37

Discriminative and Distinct Phenotyping by Constrained Tensor Factorization

Kim, Y., El-Kareh, R. E., Sun, J., Yu, H., & Jiang, X. (2017) · Scientific Reports · doi:10.1038/s41598-017-01139-y · Cited by 36

Longitudinal big biological data in the AI era

Mardinoğlu, A., Türkez, H., Shong, M., Srinivasulu, V. P., Nielsen, J., Palsson, B. Ø., Hood, L., & Uhlén, M. (2025) · Molecular Systems Biology · doi:10.1038/s44320-025-00134-0 · Cited by 36

Potential roles for pharmacists in pharmacogenetics

El‐Ibiary, S. Y., Cheng, C. M., & Alldredge, B. K. (2008) · Journal of the American Pharmacists Association · doi:10.1331/japha.2008.07050 · Cited by 34

The zebrafish:scalable in vivo modeling for systems biology

Deo, R. C., & MacRae, C. A. (2010) · WIREs Systems Biology and Medicine · doi:10.1002/wsbm.117 · Cited by 34

Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations

Biesecker, L. (2005) · Clinical Genetics · doi:10.1111/j.1399-0004.2005.00509.x · Cited by 34

Genome-wide association studies on IgE regulation: are genetics of IgE also genetics of atopic disease?

Weidinger, S., Baurecht, H., Naumann, A., & Novak, N. (2010) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0b013e32833d7d2d · Cited by 34

Digital Phenotyping in Clinical Neurology

Gupta, A. S. (2022) · Seminars in Neurology · doi:10.1055/s-0041-1741495 · Cited by 32

Ontological phenotype standards for neurogenetics

Köhler, S., Doelken, S. C., Rath, A., Aymé, S., & Robinson, P. N. (2012) · Human Mutation · doi:10.1002/humu.22112 · Cited by 31

Measuring phenotype-phenotype similarity through the interactome

Peng, J., Hui, W., & Shang, X. (2018) · BMC Bioinformatics · doi:10.1186/s12859-018-2102-9 · Cited by 31

Saturation of the Human Phenome

Samuels, M. E. (2010) · Current Genomics · doi:10.2174/138920210793175886 · Cited by 32

Linking gene expression to phenotypes via pathway information

Papatheodorou, I., Oellrich, A., & Smedley, D. P. (2015) · Journal of Biomedical Semantics · doi:10.1186/s13326-015-0013-5 · Cited by 30

Functional Allele Validation by Gene Editing to Leverage the Wealth of Genetic Resources for Crop Improvement

Thomson, M. J., Biswas, S., Τσακιρπάλογλου, Ν., & Septiningsih, E. M. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23126565 · Cited by 30

Bringing prevention in geriatrics: Evidences from cardiovascular medicine supporting the new challenge

Scuteri, A., & Lakatta, E. G. (2012) · Experimental Gerontology · doi:10.1016/j.exger.2012.02.009 · Cited by 32

The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males

Rosenberg, S., Templeton, A. R., Feigin, P. D., Lancet, D., Beckmann, J. S., Selig, S., Hamer, D. H., & Skorecki, K. L. (2006) · Human Genetics · doi:10.1007/s00439-006-0198-x · Cited by 29

Subfertility Linked to Combined Luteal Insufficiency and Uterine Progesterone Resistance

Konno, T., Graham, A. R., Rempel, L. A., Ho-Chen, J. K., Alam, S. M. K., Bu, P., Rumi, M. A. K., & Soares, M. J. (2010) · Endocrinology · doi:10.1210/en.2010-0440 · Cited by 28

Phenotypes of Cardiovascular Diseases: Current Status and Future Perspectives

Zhang, H., Hua, X., & Song, J. (2021) · Phenomics · doi:10.1007/s43657-021-00022-1 · Cited by 28

Bioinformatics methods for identifying candidate disease genes

van Driel, M. A., & Brunner, H. G. (2006) · Human Genomics · doi:10.1186/1479-7364-2-6-429 · Cited by 27

A quick assessment tool for human‐directed aggression in pet dogs

Klausz, B., Kis, A., Persa, E., Miklósi, Á., & Gácsi, M. (2013) · Aggressive Behavior · doi:10.1002/ab.21501 · Cited by 27

TERMINOLOGICAL MAPPING FOR HIGH THROUGHPUT COMPARATIVE BIOLOGY OF PHENOTYPES

Lussier, Y. A., & LI, J. (2003) · Pacific Symposium on Biocomputing (PSB) · doi:10.1142/9789812704856_0020 · Cited by 27

Automated multidimensional phenotypic profiling using large public microarray repositories

Xu, M., Li, W., James, G. M., Mehan, M. R., & Zhou, X. J. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0900883106 · Cited by 26

Fenotipos clínicos de la EPOC

Sobradillo, P., García‐Aymerich, J., & Agustí, A. G. N. (2010) · Archivos de Bronconeumología · doi:10.1016/s0300-2896(10)70056-9 · Cited by 25

The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges

Landis, B. J., & Ware, S. M. (2016) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2016.00022 · Cited by 25

Genomic Comparisons of Humans and Chimpanzees

Varki, A. P., & Nelson, D. L. (2007) · Annual Review of Anthropology · doi:10.1146/annurev.anthro.36.081406.094339 · Cited by 25

Ontologizing health systems data at scale: making translational discovery a reality

Callahan, T. J., Stefanski, A. L., Wyrwa, J. M., Zeng, C., Ostropolets, A., Banda, J. M., Baumgartner, W. A., Boyce, R. D., Casiraghi, E., Coleman, B., et al. (2023) · npj Digital Medicine · doi:10.1038/s41746-023-00830-x · Cited by 29

How pleiotropic genetics of the musculoskeletal system can inform genomics and phenomics of aging

Karasik, D. (2010) · AGE · doi:10.1007/s11357-010-9159-3 · Cited by 24

Comparative Genomics for Detecting Human Disease Genes

Moreno, C., Lazar, J., Jacob, H. J., & Kwitek, A. E. (2008) · Advances in genetics · doi:10.1016/s0065-2660(07)00423-3 · Cited by 23

Phenomics and lamins: From disease to therapy

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Neurocognitive Phenotypes and Genetic Dissection of Disorders of Brain and Behavior

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