Urban, Alexander E.

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

Abyzov, A., Urban, A. E., Snyder, M., & Gerstein, M. (2011) · Genome Research

Genomic variations and chromosomal abnormalitiesGenomics and Phylogenetic Studies

Cited by 1,658

Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome

Korbel, J. O., Urban, A. E., Affourtit, J. P., Godwin, B., Grubert, F., Simons, J. F., Kim, P. M., Palejev, D., Carriero, N. J., Du, L., et al. (2007) · Science

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,163

Mapping copy number variation by population-scale genome sequencing

1000 Genomes Project, Mills, R. E., Walter, K., Stewart, C., Handsaker, R. E., Chen, K., Alkan, C., Abyzov, A., Yoon, S. C., Ye, K., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,140

The NASA Twins Study: A multidimensional analysis of a year-long human spaceflight

Garrett-Bakelman, F. E., Darshi, M., Green, S. J., Gur, R. C., Lin, L., Macias, B. R., McKenna, M. J., Meydan, C., Mishra, T., Nasrini, J., et al. (2019) · Science

Spaceflight effects on biologySpace exploration and regulation

Cited by 1,128

Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals

Battle, A., Mostafavi, S., Zhu, X., Potash, J. B., Weissman, M. M., McCormick, C., Haudenschild, C. D., Beckman, K. B., Shi, J., Mei, R., et al. (2014) · Genome Research

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 547

The genetic architecture of down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Korbel, J. O., Tirosh-Wagner, T., Urban, A. E., Chen, X.-N., Kasowski, M., Dai, L., Grubert, F., Erdman, C., Gao, M. C., Lange, K., et al. (2009) · Proceedings of the National Academy of Sciences

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

Cited by 399

A comprehensive map of mobile element insertion polymorphisms in humans

Stewart, C., Kural, D., Strömberg, M. P., Walker, J. A., Konkel, M. K., Stütz, A. M., Urban, A. E., Grubert, F., Lam, H. Y. K., Lee, W.-P., et al. (2011) · PLoS Genetics

Chromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities

Cited by 307

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

McConnell, M. J., Moran, J. V., Abyzov, A., Akbarian, S., Bae, T., Cortes-Ciriano, I., Erwin, J. A., Fasching, L., Flasch, D. A., Freed, D., et al. (2017) · Science

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 262

Type I interferon signaling genes in recurrent major depression: increased expression detected by whole-blood RNA sequencing

Mostafavi, S., Battle, A., Zhu, X., Potash, J. B., Weissman, M. M., Shi, J., Beckman, K., Haudenschild, C., McCormick, C., Mei, R., et al. (2014) · Molecular Psychiatry

Tryptophan and brain disordersTreatment of Major Depression

Cited by 187

Integrated systems analysis reveals a molecular network underlying autism spectrum disorders

Li, J., Shi, M., Ma, Z., Zhao, S., Euskirchen, G., Ziskin, J., Urban, A., Hallmayer, J., & Snyder, M. (2014) · Molecular Systems Biology

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 132

Genome amplification and cellular senescence are hallmarks of human placenta development

Velicky, P., Meinhardt, G., Plessl, K., Vondra, S., Weiss, T., Haslinger, P., Lendl, T., Aumayr, K., Mairhofer, M., Zhu, X., et al. (2018) · PLOS Genetics

Telomeres, Telomerase, and SenescencePregnancy and preeclampsia studies

Cited by 102

Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage

Zhang, X., Hong, D., Ma, S., Ward, T., Ho, M., Pattni, R., Duren, Z., Stankov, A., Bade Shrestha, S., Hallmayer, J., et al. (2020) · Proceedings of the National Academy of Sciences

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders

Cited by 101

Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2

Zhou, B., Ho, S. S., Greer, S. U., Spies, N., Bell, J. M., Zhang, X., Zhu, X., Arthur, J. G., Byeon, S., Pattni, R., et al. (2019) · Nucleic Acids Research

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

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