Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.

Angrist A, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys HCM, Chakravarti A: Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet 4:821-830, 1995. PMID 7633441.

A missense mutation of the Endothelin-B Receptor Gene in Multigenic Hirschsprung’s Disease.

Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravarti A: A missense mutation of the Endothelin-B Receptor Gene in Multigenic Hirschsprung’s Disease. Cell 79:1257-1266, 1994. PMID 8001158.

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

Puffenberger EG, Kauffman ER, Bolk S, Matise TC, Washington SS, Angrist M, Weissenbach J, Garver KL, Mascari M, Ladda R, Slaugenhaupt SA, Chakravarti A: Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet 3:1217-1225, 1994. PMID 7987295.

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

Angrist M, Kaufmann E, Slaugenhaupt SA, Matise TC, Puffenberger EG, Washington SS, Lipson A, Cass DT, Reyna T, Weeks DE, Sieber W, Chakravarti A: A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nat Genet 4:351-356, 1993. PMID 8401581.

Waardenburg syndrome and Hirschsprung disease: Evidence for pleiotropic effects of a single dominant gene.

Badner JA, Chakravarti A: Waardenburg syndrome and Hirschsprung disease: Evidence for pleiotropic effects of a single dominant gene. Am J Med Genet 35:100-104, 1990.  PMID 2301458.

A genetic study of Hirschsprung disease.

Badner JA, Sieber W, Garver KL, Chakravarti A: A genetic study of Hirschsprung disease. Am J Hum Genet 46:568-580, 1990. PMID 2309705. PMC1683643.