E G Puffenberger

Summary

Affiliation: Clinic for Special Children
Country: USA

Publications

  1. ncbi A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder
    Erik G Puffenberger
    Clinic for Special Children, Strasburg, PA 17579, USA
    Hum Mutat 33:1639-46. 2012
  2. ncbi Genetic mapping and exome sequencing identify variants associated with five novel diseases
    Erik G Puffenberger
    Clinic for Special Children, Strasburg, Pennsylvania, United States of America
    PLoS ONE 7:e28936. 2012
  3. ncbi Identification of disease causing loci using an array-based genotyping approach on pooled DNA
    David W Craig
    Neurogenomics Division, Translational Genomics Research Institute TGen, Phoenix, Arizona 85004, USA
    BMC Genomics 6:138. 2005
  4. ncbi Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania
    E G Puffenberger
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Am J Med Genet C Semin Med Genet 121:18-31. 2003
  5. ncbi Elective liver transplantation for the treatment of classical maple syrup urine disease
    K A Strauss
    Clinic for Special Children, Strasburg, Pennsylvania, USA
    Am J Transplant 6:557-64. 2006
  6. ncbi Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites
    S Bolk
    Am J Hum Genet 65:1785-90. 1999
  7. ncbi Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22
    E G Puffenberger
    Department of Human Genetics, University of Pittsburgh, PA 15261
    Hum Mol Genet 3:1217-25. 1994
  8. ncbi A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
    E G Puffenberger
    Department of Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Ohio 44106 4955
    Cell 79:1257-66. 1994

Collaborators

Detail Information

Publications8

  1. ncbi A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder
    Erik G Puffenberger
    Clinic for Special Children, Strasburg, PA 17579, USA
    Hum Mutat 33:1639-46. 2012
    ..Hum Mutat 33:1639-1646, 2012. © 2012 Wiley Periodicals, Inc...
  2. ncbi Genetic mapping and exome sequencing identify variants associated with five novel diseases
    Erik G Puffenberger
    Clinic for Special Children, Strasburg, Pennsylvania, United States of America
    PLoS ONE 7:e28936. 2012
    ..Our results reveal the power of coupling new genotyping technologies to population-specific genetic knowledge and robust clinical data...
  3. ncbi Identification of disease causing loci using an array-based genotyping approach on pooled DNA
    David W Craig
    Neurogenomics Division, Translational Genomics Research Institute TGen, Phoenix, Arizona 85004, USA
    BMC Genomics 6:138. 2005
    ....
  4. ncbi Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania
    E G Puffenberger
    Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579, USA
    Am J Med Genet C Semin Med Genet 121:18-31. 2003
    ..Finally, data from microsatellite marker genotyping within the Old Order Mennonite population are provided that show a significant but modest decrease in genetic diversity and elevated levels of background linkage disequilibrium...
  5. ncbi Elective liver transplantation for the treatment of classical maple syrup urine disease
    K A Strauss
    Clinic for Special Children, Strasburg, Pennsylvania, USA
    Am J Transplant 6:557-64. 2006
    ..Costs and risks associated with surgery and immune suppression were similar to other pediatric liver transplant populations...
  6. ncbi Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites
    S Bolk
    Am J Hum Genet 65:1785-90. 1999
  7. ncbi Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22
    E G Puffenberger
    Department of Human Genetics, University of Pittsburgh, PA 15261
    Hum Mol Genet 3:1217-25. 1994
    ..Significant nonrandom association was detected with alleles at markers D13S162, D13S160, D13S170, and AFM240zg9. In addition, our studies reveal preliminary evidence for a genetic modifier of HSCR in this kindred on chromosome 21q22...
  8. ncbi A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
    E G Puffenberger
    Department of Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Ohio 44106 4955
    Cell 79:1257-66. 1994
    ..The mutation is dosage sensitive, in that W276C homozygotes and heterozygotes have a 74% and a 21% risk, respectively, of developing HSCR. Genotype analysis of patients in a Mennonite pedigree shows HSCR to be a multigenic disorder...