Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.
Bayrak H et al.
Metabolic Brain Disease, 2021
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.s004.xlsx › Sheet1
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Westemeyer M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32366966 (PubMed )
Supplement: 41436_2020_807_MOESM1_ESM.docx
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy.
Radha Rama Devi A et al.
Journal of Pediatric Genetics, 2018
Using whole-exome sequencing to identify inherited causes of autism.
Yu TW et al.
Neuron, 2013
Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan.
Chien YH et al.
Journal of Child Neurology, 2004
Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.
de los Reyes E et al.
Journal of Child Neurology, 2004
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).
Toone JR et al.
Molecular Genetics and Metabolism, 2003
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