Published in Trends Genet on July 01, 1999
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet (2000) 4.12
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet (2002) 2.49
Modifier genes in Mendelian disorders: the example of cystic fibrosis. Ann N Y Acad Sci (2010) 1.87
Single-gene disorders: what role could moonlighting enzymes play? Am J Hum Genet (2005) 1.52
Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases. PLoS One (2011) 1.51
Tilting at quixotic trait loci (QTL): an evolutionary perspective on genetic causation. Genetics (2008) 1.33
Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations. Proc Natl Acad Sci U S A (2004) 1.28
Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease. Mol Cell Neurosci (2007) 1.24
Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases. Am J Hum Genet (2007) 1.24
Chapter 4: Protein interactions and disease. PLoS Comput Biol (2012) 1.10
Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause? J Inherit Metab Dis (2009) 1.10
Saturation of the human phenome. Curr Genomics (2010) 1.09
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. Hum Genet (2005) 1.04
Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008. J Inherit Metab Dis (2008) 1.02
Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. Am J Hum Genet (2008) 1.02
Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders. J Inherit Metab Dis (2000) 1.00
Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine. Am J Hum Genet (2001) 0.95
What are genes "for" or where are traits "from"? What is the question? Bioessays (2009) 0.94
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. Am J Hum Genet (2001) 0.93
Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency. Hum Genet (2005) 0.93
Dominant versus recessive: molecular mechanisms in metabolic disease. J Inherit Metab Dis (2008) 0.92
CFTR mutation analysis and haplotype associations in CF patients. Mol Genet Metab (2011) 0.89
Hypogonadotropic hypogonadism in subjects with DAX1 mutations. Mol Cell Endocrinol (2011) 0.89
Gene preference in maple syrup urine disease. Am J Hum Genet (2000) 0.89
Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases. J Inherit Metab Dis (2008) 0.89
Multiple sclerosis, vitamin D, and HLA-DRB1*15. Neurology (2010) 0.88
Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria. Hum Gene Ther (2010) 0.88
Protein variation in Adh and Adh-related in Drosophila pseudoobscura. Linkage disequilibrium between single nucleotide polymorphisms and protein alleles. Genetics (2001) 0.87
Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila. Hum Mol Genet (2015) 0.87
5-Hydroxytryptophan during critical postnatal period improves cognitive performances and promotes dendritic spine maturation in genetic mouse model of phenylketonuria. Int J Neuropsychopharmacol (2010) 0.86
Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria. Eur J Hum Genet (2014) 0.86
Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes. Mol Genet Metab (2009) 0.86
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. Hum Mol Genet (2015) 0.84
Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test. J Inherit Metab Dis (2009) 0.83
Concordance rates of Wilson's disease phenotype among siblings. J Inherit Metab Dis (2013) 0.83
Firing up the nature/nurture controversy: bioethics and genetic determinism. J Med Ethics (2005) 0.81
Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S. JIMD Rep (2012) 0.79
Clinical utility gene card for: Phenylketonuria. Eur J Hum Genet (2011) 0.78
An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin. PLoS One (2013) 0.78
Garrod's foresight; our hindsight. J Inherit Metab Dis (2001) 0.77
Predicting functional and regulatory divergence of a drug resistance transporter gene in the human malaria parasite. BMC Genomics (2015) 0.77
Modelling the phenylalanine blood level response during treatment of phenylketonuria. J Inherit Metab Dis (2001) 0.77
Outcomes of phenylketonuria with relevance to follow-up. JIMD Rep (2011) 0.77
Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary. Wien Klin Wochenschr (2010) 0.76
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response? JIMD Rep (2011) 0.76
A Next Generation Multiscale View of Inborn Errors of Metabolism. Cell Metab (2015) 0.76
Causal drift, robust signaling, and complex disease. PLoS One (2015) 0.75
Neuropsychiatric Symptoms in Inborn Errors of Metabolism: Incorporation of Genomic and Metabolomic Analysis into Therapeutics and Prevention. Curr Genet Med Rep (2013) 0.75
2001 ASHG Award for Excellence in Education. Introductory speech for Charles Scriver. Am J Hum Genet (2002) 0.75
Phenotypic expression of the p.Leu1077Pro CFTR mutation in Sicilian cystic fibrosis patients. BMC Res Notes (2013) 0.75
Early-onset behavioral and neurochemical deficits in the genetic mouse model of phenylketonuria. PLoS One (2017) 0.75
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency. Eur J Pediatr (2017) 0.75
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am J Hum Genet (1997) 1.25
PAHdb: a locus-specific knowledgebase. Hum Mutat (2000) 1.11
Sialic acid and cardiovascular mortality. BMJ (1991) 1.01
Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study. Pediatr Res (1997) 0.95
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy. J Inherit Metab Dis (2004) 0.93
Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI. Neuropediatrics (2008) 0.82
Intracranial calcification after cord blood neonatal transplantation for krabbe disease. Neuropediatrics (2010) 0.80
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience. Eur J Hum Genet (1998) 0.76
Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy. Neuropediatrics (2007) 0.75