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
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
36556183 (PubMed )
Supplement: jpm-12-01962-s001.zip › jpm-1983119-supplementary.pdf
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants
Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.
Zou H et al.
Nucleic Acids Research, 2022
35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1
Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later.
Tramontana TF et al.
Jimd Reports, 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.s001.xlsx › Sheet1
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing.
Deng J et al.
Frontiers in Genetics, 2019
30833958 (PubMed )
Supplement: Table_1.XLSX › susceptibility_genes
Systematic genomic and translational efficiency studies of uveal melanoma.
Johnson CP et al.
Plos One, 2017
28594900 (PubMed )
Supplement: pone.0178189.s004.xls › Sheet1
Valproate-induced chorea and encephalopathy in atypical nonketotic hyperglycinemia.
Morrison PF et al.
Pediatric Neurology, 2006
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
Kure S et al.
Human Mutation, 2006
Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.
Dinopoulos A et al.
Neurology, 2005
Atypical variants of nonketotic hyperglycinemia.
Dinopoulos A et al.
Molecular Genetics and Metabolism, 0
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