Genomes and Genes
E G Puffenberger
Affiliation: Clinic for Special Children
- A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorderErik 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...
- Genetic mapping and exome sequencing identify variants associated with five novel diseasesErik 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...
- Identification of disease causing loci using an array-based genotyping approach on pooled DNADavid W Craig
Neurogenomics Division, Translational Genomics Research Institute TGen, Phoenix, Arizona 85004, USA
BMC Genomics 6:138. 2005....
- Genetic heritage of the Old Order Mennonites of southeastern PennsylvaniaE 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...
- Elective liver transplantation for the treatment of classical maple syrup urine diseaseK 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...
- Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order MennonitesS Bolk
Am J Hum Genet 65:1785-90. 1999
- Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22E 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...
- A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's diseaseE 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...