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Fingerprint Dive into the research topics where Garrett K Gotway is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

  • 411 Citations
  • 6 h-Index
  • 13 Article
  • 1 Letter

Clinical exome studies have inconsistent coverage

Gotway, G., Crossley, E., Kozlitina, J., Xing, C., Fan, J., Hornbuckle, C., Thies, J., Michel, D., Quinn, C., Scheuerle, A. E., Umana, L. A., Uhles, C. L. & Park, J. Y., Jan 1 2020, In : Clinical chemistry. 66, 1, p. 199-206 8 p.

Research output: Contribution to journalArticle

  • 1 Scopus citations

    A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay

    Paulraj, P., Bosworth, M., Longhurst, M., Hornbuckle, C., Gotway, G. K., Lamb, A. N. & Andersen, E. F., Jan 1 2019, (Accepted/In press) In : Cytogenetic and Genome Research.

    Research output: Contribution to journalArticle

  • Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans

    Ni, M., Solmonson, A., Pan, C., Yang, C., Li, D., Notzon, A., Cai, L., Guevara, G., Zacharias, L. G., Faubert, B., Vu, H. S., Jiang, L., Ko, B., Morales, N. M., Pei, J., Vale, G., Rakheja, D., Grishin, N. V., McDonald, J. G., Gotway, G. K. & 3 others, McNutt, M. C., Pascual, J. M. & DeBerardinis, R. J., Apr 30 2019, In : Cell Reports. 27, 5, p. 1376-1386.e6

    Research output: Contribution to journalArticle

    Open Access
  • 2 Scopus citations

    De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

    Weiss, K., Terhal, P. A., Cohen, L., Bruccoleri, M., Irving, M., Martinez, A. F., Rosenfeld, J. A., Machol, K., Yang, Y., Liu, P., Walkiewicz, M., Beuten, J., Gomez-Ospina, N., Haude, K., Fong, C. T., Enns, G. M., Bernstein, J. A., Fan, J., Gotway, G., Ghorbani, M. & 7 others, van Gassen, K., Monroe, G. R., van Haaften, G., Basel-Vanagaite, L., Yang, X. J., Campeau, P. M. & Muenke, M., Oct 6 2016, In : American Journal of Human Genetics. 99, 4, p. 934-941 8 p.

    Research output: Contribution to journalArticle

  • 26 Scopus citations

    FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome

    Dai, H., Zhang, V. W., El-Hattab, A. W., Ficicioglu, C., Shinawi, M., Lines, M., Schulze, A., Mcnutt, M., Gotway, G., Tian, X., Chen, S., Wang, J., Craigen, W. J. & Wong, L. J., 2016, (Accepted/In press) In : Clinical Genetics.

    Research output: Contribution to journalArticle

  • 4 Scopus citations