Associated Papers
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.
Kingsmore SF et al.
American Journal of Human Genetics, 2024
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
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
Bravo-Alonso I et al.
Human Mutation, 2017
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