Thakuria, Joseph V

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

Drmanac, R., Sparks, A. B., Callow, M. J., Halpern, A. L., Burns, N. L., Kermani, B. G., Carnevali, P., Nazarenko, I., Nilsen, G. B., Yeung, G., et al. (2010) · Science

Advanced biosensing and bioanalysis techniquesGenomics and Phylogenetic Studies

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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

Cited by 674

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Miller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 427

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M.-A., et al. (2017) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 334

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

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

Lalani, S. R., Thakuria, J. V., Cox, G. F., Wang, X., Bi, W., Bray, M. S., Shaw, C., Cheung, S. W., Chinault, A. C., Boggs, B. A., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesCardiac Arrhythmias and Treatments

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