Erik G. Puffenberger

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5 (2007)

Puffenberger, Erik G., Strauss, Kevin A., Ramsey, Keri E., Craig, David W., Stephan, Dietrich A., Robinson, Donna L., ...

We used single nucleotide polymorphism (SNP) microarrays to investigate the cause of a symptomatic epilepsy syndrome in a group of seven distantly related Old Order Mennonite children. Autozygosity...

Identification of disease causing loci using an array-based genotyping approach on pooled DNA (2005)

Craig, David W, Huentelman, Matthew J, Hu-Lince, Diane, Zismann, Victoria L, Kruer, Michael C, Lee, Anne M, ...

Abstract Background Pooling genomic DNA samples within clinical classes of disease followed by genotyping on whole-genome SNP microarrays, allows for rapid and inexpensive genome-wide association...

BMC Genomics BioMed Central Methodology article (2005)

David W Craig, Matthew J Huentelman, Diane Hu-lince, Victoria L Zismann, Michael C Kruer, Anne M Lee, ...

Identification of disease causing loci using an array-based genotyping approach on pooled DNA

Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. (1999)

Bolk, Stacey, Puffenberger, Erik G., Hudson, Jim, Morton, D. Holmes, Chakravarti, Aravinda

Allele Frequency Distributions in Pooled DNA Samples: Applications to Mapping Complex Disease Genes (1998)

Shaw, Sarah H., Carrasquillo, Minerva M., Kashuk, Carl, Puffenberger, Erik G., Chakravarti, Aravinda

Mapping susceptibility loci for Hirschsprung disease in a genetic isolate / (1996)

Puffenberger, Erik G.

Thesis (Ph. D.)--Case Western Reserve University, 1996.

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease (1995)

Angrist, Misha, Bolk, Stacey, Thiel, Bonnie, Puffenberger, Erik G., Hofstra, Robert M., ...

Hirschsprung disease (HSCR), or congenital agangiionic megacolon, is the most common cause of congenital bowel obstruction with an incidence of 1 in 5000 live births. Recently, linkage of an...

Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function

Puffenberger, Erik G., Hu-Lince, Diane, Parod, Jennifer M., Craig, David W., Dobrin, Seth E., Conway, Andrew R., ...

We have identified a lethal phenotype characterized by sudden infant death (from cardiac and respiratory arrest) with dysgenesis of the testes in males [Online Mendelian Inheritance in Man (OMIM)...

Identification of disease causing loci using an array-based genotyping approach on pooled DNA

Craig, David W, Huentelman, Matthew J, Hu-Lince, Diane, Zismann, Victoria L, Kruer, Michael C, Lee, Anne M, ...

Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites

Bolk, Stacey, Puffenberger, Erik G., Hudson, Jim, Morton, D. Holmes, Chakravarti, Aravinda

Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function

Puffenberger, Erik G., Hu-Lince, Diane, Parod, Jennifer M., Craig, David W., Dobrin, Seth E., Conway, Andrew R., ...

We have identified a lethal phenotype characterized by sudden infant death (from cardiac and respiratory arrest) with dysgenesis of the testes in males [Online Mendelian Inheritance in Man (OMIM)...

Identification of C7orf11 (TTDN1) Gene Mutations and Genetic Heterogeneity in Nonphotosensitive Trichothiodystrophy

Nakabayashi, Kazuhiko, Amann, Daniela, Ren, Yan, Saarialho-Kere, Ulpu, Avidan, Nili, Gentles, Simone, ...

We have identified C7orf11, which localizes to the nucleus and is expressed in fetal hair follicles, as the first disease gene for nonphotosensitive trichothiodystrophy (TTD). C7orf11 maps to...

Identification of disease causing loci using an array-based genotyping approach on pooled DNA

Craig, David W, Huentelman, Matthew J, Hu-Lince, Diane, Zismann, Victoria L, Kruer, Michael C, Lee, Anne M, ...

Elevated Frequency and Allelic Heterogeneity of Congenital Nephrotic Syndrome, Finnish Type, in the Old Order Mennonites

Bolk, Stacey, Puffenberger, Erik G., Hudson, Jim, Morton, D. Holmes, Chakravarti, Aravinda

Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10

Sherman, Eric A., Strauss, Kevin A., Tortorelli, Silvia, Bennett, Michael J., Knerr, Ina, Morton, D. Holmes, ...

While screening Old Order Amish children for glutaric aciduria type 1 (GA1) between 1989 and 1993, we found three healthy children who excreted abnormal quantities of glutaric acid but low...

A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems

Lahiry, Piya, Wang, Jian, Robinson, John F., Turowec, Jacob P., Litchfield, David W., Lanktree, Matthew B., ...

Six infants in an Old Order Amish pedigree were observed to be affected with endocrine-cerebro-osteodysplasia (ECO). ECO is a previously unidentified neonatal lethal recessive disorder with multiple...