If you made any changes in Pure, your changes will be visible here soon.

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.

  • 4 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

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1997 2019

  • 394 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
Genes
Chromosomes, Human, Pair 13
Mutation
1 Citation (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., Dias do 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
Metabolomics
Genomics
Metabolism
21 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
Chromatin
Adenosine Triphosphate
Mutation
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
Milk
Mutation
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

Adenosylhomocysteinase
Liver
Liver Diseases
Hepatocellular Carcinoma
Transaminases