Associated Papers
Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
Adams AD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants.
Xiang J et al.
Human Mutation, 2020
Recessive gene disruptions in autism spectrum disorder.
Doan RN et al.
Nature Genetics, 2019
31209396 (PubMed )
Supplement: NIHMS1528530-supplement-1.pdf
Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.
Hogan GJ et al.
Clinical Chemistry, 2018
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
Danecka MK et al.
Journal of Medical Genetics, 2015
Molecular genetics and diagnosis of phenylketonuria: state of the art.
Blau N et al.
Expert Review of Molecular Diagnostics, 2014
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.
Ho G et al.
Jimd Reports, 2014
Detection limit of intragenic deletions with targeted array comparative genomic hybridization.
Askree SH et al.
Bmc Genetics, 2013
A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.
Bercovich D et al.
Annals of Human Genetics, 2008
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene.
Bercovich D et al.
Journal of Human Genetics, 2008
Automated splicing mutation analysis by information theory.
Nalla VK et al.
Human Mutation, 2005
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