Smith, Joshua D.

Biological, clinical and population relevance of 95 loci for blood lipids

Teslovich, T. M., Musunuru, K., Smith, A. V., Edmondson, A. C., Stylianou, I. M., Koseki, M., Pirruccello, J. P., Ripatti, S., Chasman, D. I., Willer, C. J., et al. (2010) · Nature

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

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The contribution of de novo coding mutations to autism spectrum disorder

Iossifov, I., O’Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., et al. (2014) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Mapping and sequencing of structural variation from eight human genomes

Kidd, J. M., Cooper, G. M., Donahue, W. F., Hayden, H. S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., et al. (2008) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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The genetic architecture of type 2 diabetes

Fuchsberger, C., Flannick, J., Teslovich, T. M., Mahajan, A., Agarwala, V., Gaulton, K. J., Ma, C., Fontanillas, P., Moutsianas, L., McCarthy, D. J., et al. (2016) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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Genomic data in the all of us research program

The All of Us Research Program Genomics Investigators, Manuscript Writing Group, Bick, A. G., Metcalf, G. A., Mayo, K. R., Lichtenstein, L., Rura, S., Carroll, R. J., Musick, A., Linder, J. E., et al. (2024) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

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De novo rates and selection of large copy number variation

Itsara, A., Wu, H., Smith, J. D., Nickerson, D. A., Romieu, I., London, S. J., & Eichler, E. E. (2010) · Genome Research

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

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A statin-dependent QTL for GATM expression is associated with statin-induced myopathy

Mangravite, L. M., Engelhardt, B. E., Medina, M. W., Smith, J. D., Brown, C. D., Chasman, D. I., Mecham, B. H., Howie, B., Shim, H., Naidoo, D., et al. (2013) · Nature

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

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Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

Santos-Cortez, R. L. P., Lee, K., Giese, A. P., Ansar, M., Amin-Ud-Din, M., Rehn, K., Wang, X., Aziz, A., Chiu, I., Hussain Ali, R., et al. (2014) · Human Molecular Genetics

Hearing, Cochlea, Tinnitus, GeneticsCongenital Ear and Nasal Anomalies

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