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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.

  • 6 Similar Profiles
Mutation Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
Lactic Acidosis Medicine & Life Sciences
Adenosylhomocysteinase Chemical Compounds
Functional assessment Chemical Compounds
I-kappa B Kinase Medicine & Life Sciences
Incontinentia Pigmenti Medicine & Life Sciences

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Research Output 1997 2019

  • 405 Citations
  • 6 h-Index
  • 13 Article

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

Intellectual Disability
Single Nucleotide Polymorphism
Chromosomes, Human, Pair 13
2 Citations (Scopus)

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
Functional assessment
Inborn Errors Metabolism
24 Citations (Scopus)

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

DNA-Binding Proteins
Intellectual Disability
Adenosine Triphosphate
4 Citations (Scopus)

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

Mitochondrial Diseases
Mitochondrial DNA
Lactic Acidosis
16 Citations (Scopus)

Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency

Stender, S., Chakrabarti, R. S., Xing, C., Gotway, G., Cohen, J. C. & Hobbs, H. H., Sep 8 2015, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Liver Diseases
Hepatocellular Carcinoma