Wheeler, Matthew T.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J.-P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., et al. (2019) · Nucleic Acids Research

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

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Clinical assessment incorporating a personal genome

Ashley, E. A., Butte, A. J., Wheeler, M. T., Chen, R., Klein, T. E., Dewey, F. E., Dudley, J. T., Ormond, K. E., Pavlovic, A., Morgan, A. A., et al. (2010) · The Lancet

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells

Lan, F., Lee, A. S., Liang, P., Sanchez-Freire, V., Nguyen, P. K., Wang, L., Han, L., Yen, M., Wang, Y., Sun, N., et al. (2013) · Cell Stem Cell

Cardiomyopathy and Myosin StudiesCardiac electrophysiology and arrhythmias

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Accuracy in Wrist-Worn, Sensor-Based Measurements of Heart Rate and Energy Expenditure in a Diverse Cohort

Shcherbina, A., Mattsson, C., Waggott, D., Salisbury, H., Christle, J., Hastie, T., Wheeler, M., & Ashley, E. (2017) · Journal of Personalized Medicine

Non-Invasive Vital Sign MonitoringContext-Aware Activity Recognition Systems

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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Splinter, K., Adams, D. R., Bacino, C. A., Bellen, H. J., Bernstein, J. A., Cheatle-Jarvela, A. M., Eng, C. M., Esteves, C., Gahl, W. A., Hamid, R., et al. (2018) · New England Journal of Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Undiagnosed Diseases Network, Frésard, L., Care4Rare Canada Consortium, Smail, C., Ferraro, N. M., Teran, N. A., Li, X., Smith, K. S., Bonner, D., Kernohan, K. D., et al. (2019) · Nature Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

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Biomni: A general-purpose biomedical ai agent

Huang, K., Zhang, S., Wang, H., Qu, Y., Lu, Y., Roohani, Y., Li, R., Qiu, L., Li, G., Zhang, J., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory)

Biomedical Text Mining and OntologiesArtificial Intelligence in Healthcare and Education

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Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study

Morales, A., Kinnamon, D. D., Jordan, E., Platt, J., Vatta, M., Dorschner, M. O., Starkey, C. A., Mead, J. O., Ai, T., Burke, W., et al. (2020) · Circulation: Genomic and Precision Medicine

Genomics and Rare DiseasesCardiomyopathy and Myosin Studies

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The effect of digital physical activity interventions on daily step count: A randomised controlled crossover substudy of the MyHeart Counts Cardiovascular Health Study

Shcherbina, A., Hershman, S. G., Lazzeroni, L., King, A. C., O'Sullivan, J. W., Hekler, E., Moayedi, Y., Pavlovic, A., Waggott, D., Sharma, A., et al. (2019) · The Lancet Digital Health

Mobile Health and mHealth ApplicationsPhysical Activity and Health

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Overexpression of γ-Sarcoglycan Induces Severe Muscular Dystrophy

Zhu, X., Hadhazy, M., Groh, M. E., Wheeler, M. T., Wollmann, R., & McNally, E. M. (2001) · Journal of Biological Chemistry

Muscle Physiology and DisordersCardiomyopathy and Myosin Studies

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“Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odyssey

Deuitch, N. T., Beckman, E., Halley, M. C., Young, J. L., Reuter, C. M., Kohler, J., Bernstein, J. A., Wheeler, M. T., Undiagnosed Diseases Network, Ormond, K. E., et al. (2021) · Journal of Genetic Counseling

Health Literacy and Information AccessibilitySocial Media in Health Education

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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

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