Why mutation analysis does not always predict clinical consequences: Explanations in the era of genomics

Initial sequencing and analysis of the human genome

2001 • 23,520 citations

The Sequence of the Human Genome

2001 • 13,500 citations

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

The large-scale organization of metabolic networks

2000 • 4,250 citations

From molecular to modular cell biology

1999 • 3,617 citations

Nothing in Biology Makes Sense except in the Light of Evolution

1973 • 2,991 citations

Integrated Genomic and Proteomic Analyses of a Systematically Perturbed Metabolic Network

2001 • 2,058 citations

Robustness in simple biochemical networks

1997 • 1,531 citations

Allostasis : a new paradigm to explain arousal pathology

1988 • 1,160 citations

THE MOLECULAR BASIS OF DOMINANCE

1981 • 1,033 citations

Synaptotagmin I functions as a calcium regulator of release probability

2001 • 964 citations

It’s a noisy business! Genetic regulation at the nanomolar scale

1999 • 873 citations

Principles for the Buffering of Genetic Variation

2001 • 708 citations

Principles for the Buffering of Genetic Variation

2001 • 686 citations

Handbook of Life Stress, Cognition and Health

1988 • 515 citations

Monogenic traits are not simple: lessons from phenylketonuria

1999 • 428 citations

Phenotypes of Patients with “Simple” Mendelian Disorders Are Complex Traits: Thresholds, Modifiers, and Systems Dynamics

2000 • 418 citations

Human disease genes

2001 • 383 citations

A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

1998 • 335 citations

Modifier Genes Convert “Simple” Mendelian Disorders to Complex Traits

2000 • 252 citations

Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations

1997 • 193 citations

From Molecules to Mind

2001 • 178 citations

Molecular “Vitalism”

2000 • 173 citations

A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients

1999 • 103 citations

Consequences of Complexity within Biological Networks: Robustness and Health, or Vulnerability and Disease

2001 • 101 citations

Evolving Genomic Metaphors: A New Look at the Language of DNA

2001 • 94 citations

Laws of form revisited

2001 • 81 citations

Phenotypic diversity, allelic series and modifier genes

1994 • 76 citations

Blood—Brain Barrier Phenylalanine Transport and Individual Vulnerability in Phenylketonuria

1998 • 73 citations

Comparison of genotype and intellectual phenotype in untreated PKU patients.

1993 • 51 citations

Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases

1996 • 50 citations

Degradation of Mutant Proteins, Underlying "Loss of Function" Phenotypes, Plays a Major Role in Genetic Disease

2001 • 46 citations

In vivo NMR spectroscopy in patients with phenylketonuria: Clinical significance of interindividual differences in brain phenylalanine concentrations

1998 • 41 citations

Heterozygosity: An Expanding Role in Proteomics

2001 • 30 citations

In vivo disposal of phenylalanine in phenylketonuria: A study of two siblings

1995 • 30 citations

Garrod's foresight; our hindsight

2001 • 26 citations

Hershey heaven and Caenorhabditis elegans

1999 • 14 citations

Mutation analysis in metabolic (and other genetic) disease: how soon, how useful

2000 • 11 citations

Does hereditary metabolic disease modulate senescence and ageing?

2002 • 11 citations

Phenylketonuria – a problem in eugenics

1998 • 10 citations

Deleted Work

1955 • 0 citations