Associated Papers
Proteogenomic characterization of skull-base chordoma.
Zhang Q et al.
Nature Communications, 2024
39333076 (PubMed )
Supplement: 41467_2024_52285_MOESM5_ESM.xlsx › Supplementary_Data_2A
Clinical and genetic analysis of nonketotic hyperglycinemia: A case report.
Ning JJ et al.
World Journal of Clinical Cases, 2022
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
[A case of classic nonketotic hyperglycinemia caused by compound heterozygous mutation of GLDC gene].
Ning JJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
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
A comprehensive global genotype-phenotype database for rare diseases.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2017
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
Kure S et al.
Human Mutation, 2006
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