Miller, Neil A.

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

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

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

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

A diploid assembly-based benchmark for variants in the major histocompatibility complex

Chin, C.-S., Wagner, J., Zeng, Q., Garrison, E., Garg, S., Fungtammasan, A., Rautiainen, M., Aganezov, S., Kirsche, M., Zarate, S., et al. (2020) · Nature Communications

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 82