Volfovsky, Natalia

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

Zhou, X., Feliciano, P., Shu, C., Wang, T., Astrovskaya, I., Hall, J. B., Obiajulu, J. U., Wright, J. R., Murali, S. C., Xu, S. X., et al. (2022) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 453

Initial sequence and comparative analysis of the cat genome

Pontius, J. U., Mullikin, J. C., Smith, D. R., Agencourt Sequencing Team, Lindblad-Toh, K., Gnerre, S., Clamp, M., Chang, J., Stephens, R., Neelam, B., et al. (2007) · Genome Research

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 368

Computational discovery of internal micro-exons

Volfovsky, N., Haas, B. J., & Salzberg, S. L. (2003) · Genome Research

Genomics and Phylogenetic StudiesRNA Research and Splicing

Cited by 87

Damaging de novo mutations diminish motor skills in children on the autism spectrum

Buja, A., Volfovsky, N., Krieger, A. M., Lord, C., Lash, A. E., Wigler, M., & Iossifov, I. (2018) · Proceedings of the National Academy of Sciences

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 64

Guanine holes are prominent targets for mutation in cancer and inherited disease

Bacolla, A., Temiz, N. A., Yi, M., Ivanic, J., Cer, R. Z., Donohue, D. E., Ball, E. V., Mudunuri, U. S., Wang, G., Jain, A., et al. (2013) · PLoS Genetics

Cancer Genomics and DiagnosticsDNA Repair Mechanisms

Cited by 40