Stacey Bolk

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. (2000)

Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, ...

Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance...

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

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...

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22 (1994)

G.Puffenberger, Erik, R.Kauffman, Erick, Bolk, Stacey, C.Matise, Tara, S.Washington, Sarah, Angrist, Misha, ...

Hirschsprung disease (HSCR) is a congenital disorder of unknown etiology characterized by the absence of enteric ganglia In the distal colon. We have ascertained a large, inbred, Mennonite kindred...

SBE-TAGS: An array-based method for efficient single-nucleotide polymorphism genotyping

Hirschhorn, Joel N., Sklar, Pamela, Lindblad-Toh, Kerstin, Lim, Yin-Mei, Ruiz-Gutierrez, Melisa, Bolk, Stacey, ...

Generating human single-nucleotide polymorphisms (SNPs) is no longer a rate-limiting step for genetic studies of disease. The number of SNPs in public databases already exceeds 200,000, and the total...

A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, ...

Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance...

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

SBE-TAGS: An array-based method for efficient single-nucleotide polymorphism genotyping

Hirschhorn, Joel N., Sklar, Pamela, Lindblad-Toh, Kerstin, Lim, Yin-Mei, Ruiz-Gutierrez, Melisa, Bolk, Stacey, ...

Generating human single-nucleotide polymorphisms (SNPs) is no longer a rate-limiting step for genetic studies of disease. The number of SNPs in public databases already exceeds 200,000, and the total...

A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

Bolk, Stacey, Pelet, Anna, Hofstra, Robert M. W., Angrist, Misha, Salomon, Remi, Croaker, David, ...

Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance...

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