Kingsmore, Stephen F.

Alternative isoform regulation in human tissue transcriptomes

Wang, E. T., Sandberg, R., Luo, S., Khrebtukova, I., Zhang, L., Mayr, C., Kingsmore, S. F., Schroth, G. P., & Burge, C. B. (2008) · Nature

RNA Research and SplicingRNA regulation and disease

Cited by 5,181

Comprehensive human genome amplification using multiple displacement amplification

Dean, F. B., Hosono, S., Fang, L., Wu, X., Faruqi, A. F., Bray-Ward, P., Sun, Z., Zong, Q., Du, Y., Du, J., et al. (2002) · Proceedings of the National Academy of Sciences

Molecular Biology Techniques and ApplicationsGenomics and Phylogenetic Studies

Cited by 1,467

Carrier testing for severe childhood recessive diseases by next-generation sequencing

Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Ganusova, E. E., Mudge, J., Langley, R. J., Zhang, L., Lee, C. C., Schilkey, F. D., et al. (2011) · Science Translational Medicine

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

Cited by 706

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

Clark, M. M., Stark, Z., Farnaes, L., Tan, T. Y., White, S. M., Dimmock, D., & Kingsmore, S. F. (2018) · npj Genomic Medicine

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

Cited by 619

Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis

Baranzini, S. E., Mudge, J., van Velkinburgh, J. C., Khankhanian, P., Khrebtukova, I., Miller, N. A., Zhang, L., Farmer, A. D., Bell, C. J., Kim, R. W., et al. (2010) · Nature

Multiple Sclerosis Research StudiesGenetic Associations and Epidemiology

Cited by 476

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

Farnaes, L., Hildreth, A., Sweeney, N. M., Clark, M. M., Chowdhury, S., Nahas, S., Cakici, J. A., Benson, W., Kaplan, R. H., Kronick, R., et al. (2018) · npj Genomic Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 445

A highly annotated whole-genome sequence of a Korean individual

Kim, J.-I., Ju, Y. S., Park, H., Kim, S., Lee, S., Yi, J.-H., Mudge, J., Miller, N. A., Hong, D., Bell, C. J., et al. (2009) · Nature

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 330

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.

Petrikin, J. E., Cakici, J. A., Clark, M. M., Willig, L. K., Sweeney, N. M., Farrow, E. G., Saunders, C. J., Thiffault, I., Miller, N. A., Zellmer, L., et al. (2018) · npj Genomic Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 229

Paternally inherited cis-regulatory structural variants are associated with autism

Brandler, W. M., Antaki, D., Gujral, M., Kleiber, M. L., Whitney, J., Maile, M. S., Hong, O., Chapman, T. R., Tan, S., Tandon, P., et al. (2018) · Science

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 209

Genomic organization of the selectin family of leukocyte adhesion molecules on human and mouse chromosome 1.

Watson, M. L., Kingsmore, S. F., Johnston, G. I., Siegelman, M. H., Le Beau, M. M., Lemons, R. S., Bora, N. S., Howard, T. A., Weissman, I. L., & McEver, R. P. (1990) · The Journal of experimental medicine

Cell Adhesion Molecules ResearchChemokine receptors and signaling

Cited by 157

Transcriptome sequencing of malignant pleural mesothelioma tumors

Sugarbaker, D. J., Richards, W. G., Gordon, G. J., Dong, L., De Rienzo, A., Maulik, G., Glickman, J. N., Chirieac, L. R., Hartman, M.-L., Taillon, B. E., et al. (2008) · Proceedings of the National Academy of Sciences

Occupational and environmental lung diseasesCancer Genomics and Diagnostics

Cited by 155

Rapid whole genome sequencing has clinical utility in children in the PICU

Sanford, E. F., Clark, M. M., Farnaes, L., Williams, M. R., Perry, J. C., Ingulli, E. G., Sweeney, N. M., Doshi, A., Gold, J. J., Briggs, B., et al. (2019) · Pediatric Critical Care Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 150

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

Owen, M. J., Niemi, A.-K., Dimmock, D. P., Speziale, M., Nespeca, M., Chau, K. K., Van Der Kraan, L., Wright, M. S., Hansen, C., Veeraraghavan, N., et al. (2021) · New England Journal of Medicine

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 73

Gene Expression-Based Classifiers Identify Staphylococcus aureus Infection in Mice and Humans

Ahn, S. H., Tsalik, E. L., Cyr, D. D., Zhang, Y., van Velkinburgh, J. C., Langley, R. J., Glickman, S. W., Cairns, C. B., Zaas, A. K., Rivers, E. P., et al. (2013) · PLoS ONE

Antimicrobial Resistance in StaphylococcusGene expression and cancer classification

Cited by 61