Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

(2018) Leslie G Biesecker et al.   GENETICS IN MEDICINE

ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data

(2018) Alex Henrie et al.   HUMAN MUTATION

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU

(2016) Roberta Trunzo et al.   GENE

Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation

(2016) Nan Shen et al.   MOLECULAR GENETICS AND METABOLISM

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

(2014)   GENETICS IN MEDICINE

Phenylketonuria Scientific Review Conference: State of the science and future research needs

(2014) Kathryn M. Camp et al.   MOLECULAR GENETICS AND METABOLISM

A systematic approach to assessing the clinical significance of genetic variants

(2013) H Duzkale et al.   CLINICAL GENETICS

Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography–electrospray ionization tandem mass spectrometry

(2012) Caroline Heintz et al.   MOLECULAR GENETICS AND METABOLISM