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A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, Lin S, Portnoy ME, Cutler DJ, Green ED, Chakravarti A. Emison ES, et al. Nature. 2005 Apr 14;434(7035):857-63. doi: 10.1038/nature03467. Nature. 2005. PMID: 15829955

Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence.

Kashuk CS, Stone EA, Grice EA, Portnoy ME, Green ED, Sidow A, Chakravarti A, McCallion AS. Kashuk CS, et al. Proc Natl Acad Sci U S A. 2005 Jun 21;102(25):8949-54. doi: 10.1073/pnas.0503259102. Epub 2005 Jun 13. Proc Natl Acad Sci U S A. 2005. PMID: 15956201 Free PMC article.

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