Korvatska, Olena

Functional impact of global rare copy number variation in autism spectrum disorders

Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Glessner, J. T., Wang, K., Cai, G., Korvatska, O., Kim, C. E., Wood, S., Zhang, H., Estes, A., Brune, C. W., Bradfield, J. P., et al. (2009) · Nature

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 1,421

Common genetic variants on 5p14.1 associate with autism spectrum disorders

Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., Salyakina, D., Imielinski, M., Bradfield, J. P., Sleiman, P. M. A., et al. (2009) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 989

A genome-wide scan for common alleles affecting risk for autism

Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., Sykes, N., Pagnamenta, A. T., et al. (2010) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 593

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

IMGSAC, Maestrini, E., Pagnamenta, A. T., Lamb, J. A., Bacchelli, E., Sykes, N. H., Sousa, I., Toma, C., Barnby, G., Butler, H., et al. (2010) · Molecular Psychiatry

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)

Korvatska, O., Strand, N. S., Berndt, J. D., Strovas, T., Chen, D.-H., Leverenz, J. B., Kiianitsa, K., Mata, I. F., Karakoc, E., Greenup, J. L., et al. (2013) · Human Molecular Genetics

Parkinson's Disease Mechanisms and TreatmentsRNA Research and Splicing

Cited by 140

R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study

Korvatska, O., Leverenz, J. B., Jayadev, S., McMillan, P., Kurtz, I., Guo, X., Rumbaugh, M., Matsushita, M., Girirajan, S., Dorschner, M. O., et al. (2015) · JAMA Neurology

Alzheimer's disease research and treatmentsNeuroinflammation and Neurodegeneration Mechanisms

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Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation

Filipello, F., You, S.-F., Mirfakhar, F. S., Mahali, S., Bollman, B., Acquarone, M., Korvatska, O., Marsh, J. A., Sivaraman, A., Martinez, R., et al. (2023) · Acta Neuropathologica

Neuroinflammation and Neurodegeneration MechanismsLysosomal Storage Disorders Research

Cited by 81