Associated Papers
Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.
Farris J et al.
Plos Genetics, 2021
33524012 (PubMed )
Supplement: pgen.1009307.s001.xlsx › Sheet1
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.
Farris J et al.
Plos Computational Biology, 2020
32421718 (PubMed )
Supplement: pcbi.1007871.s006.xlsx › S_T3_ddG
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
31832098 (PubMed )
Supplement: 13039_2019_459_MOESM4_ESM.xlsx › Sheet1
A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia.
Kose E et al.
Neurosciences (riyadh, Saudi Arabia), 2017
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
Kure S et al.
Human Mutation, 2006
Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia.
Nakai T et al.
The Embo Journal, 2005
Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).
Toone JR et al.
Molecular Genetics and Metabolism, 2002
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