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

This publication has 45 references indexed in Scilit:

• Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease
  American Journal of Human Genetics, 2000
• Novel twelve-generation kindred of fatal familial insomnia from Germany representing the entire spectrum of disease expression
  American Journal of Medical Genetics, 1999
• Clinical and Molecular Genetic Analysis of 19 Wolfram Syndrome Kindreds Demonstrating a Wide Spectrum of Mutations in WFS1
  American Journal of Human Genetics, 1999
• Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment
  The Journal of Steroid Biochemistry and Molecular Biology, 1999
• A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype
  American Journal of Human Genetics, 1998
• Thalassemia in the Next Millennium: Keynote Address^a
  Annals of the New York Academy of Sciences, 1998
• The Long QT Syndrome: Ion Channel Diseases of the Heart
  Mayo Clinic Proceedings, 1998
• Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations
  American Journal of Human Genetics, 1997
• Regulation and Control in Complex, Dynamic Metabolic Systems: Experimental Application of the Top-Down Approaches of Metabolic Control Analysis to Fatty Acid Oxidation and Ketogenesis
  Journal of Theoretical Biology, 1996
• An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype.
  Journal of Clinical Investigation, 1993