Associated Papers
Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2024
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
Sharo AG et al.
Genome Medicine, 2023
37443081 (PubMed )
Supplement: 13073_2023_1199_MOESM7_ESM.xlsx › HGMD
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_6
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_PAH
Next generation sequence analysis for mitochondrial disorders.
Vasta V et al.
Genome Medicine, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
Yang Y et al.
Human Mutation, 2001
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