Associated Papers
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
Sharo AG et al.
Genome Medicine, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Zastrow DB et al.
Human Mutation, 2018
13C-phenylalanine breath test and serum biopterin in schizophrenia, bipolar disorder and major depressive disorder.
Teraishi T et al.
Journal of Psychiatric Research, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples.
Talkowski ME et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2009
Investigation of the phenylalanine hydroxylase gene and tardive dyskinesia.
Richardson MA et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2006
PAHdb 2003: what a locus-specific knowledgebase can do.
Scriver CR et al.
Human Mutation, 2003
How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression.
Waters PJ
Human Mutation, 2003
Phenylalanine hydroxylase gene in psychiatric patients: screening and functional assay of mutations.
Richardson MA et al.
Biological Psychiatry, 2003
Aromatic amino acid hydroxylase genes and schizophrenia.
Chao HM et al.
American Journal of Medical Genetics, 2002
A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.
Gjetting T et al.
Molecular Genetics and Metabolism, 2001
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
Acosta A et al.
Human Mutation, 2001
Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
Acosta AX et al.
Human Mutation, 2001
Identical SRY mutations with different phenotypic effects.
Mittwoch U
American Journal of Human Genetics, 1993