GPT2

Publications

Ouyang Q et al. GPT2 mutations in autosomal recessive developmental disability: Extending the clinical phenotype and population prevalence estimates. Hum Genet. 2019;138(10):1183-1200. PMID: 31471722.

Kaymakcalan H et al. Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia. Am J Med Genet A. 2018;176(2):421-5.  PMID: 29226631.

Hengel H et al. GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. Clin Genet. 2018;94(3-4):356-61.  PMID: 29882329.

Lobo-Prada T et al. A homozygous mutation in GPT2 associated with nonsyndromic intellectual disability in a consanguineous family from Costa Rica. JIMD Rep. 2017;36:59-66.  PMID: 28130718.

Ouyang Q et al. Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. Proc Natl Acad Sci U S A 2016;113(38):E5598-607.  PMID: 27601654.

Pagnamenta AT et al. Exome sequencing in a cohort of patients with microcephaly and related conditions – identification of known and novel disease genes and the lessons learned. 65th Annual Meeting of The American Society for Human Genetics. 2015;Abstract/Program No. 1046.

Celis K et al. Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. J Inherit Metab Dis. 2015;38(5):941-8.  PMID: 25758935.

Harripaul R et al. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. Mol Psychiatry. 2018;23(4):973-84.  PMID: 28397838.

Iglesias A et al. The usefulness of whole-exome sequencing in routine clinical practice. Genet Med. 2014;16(12):922-31.  PMID: 24901346.