Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome – Hirschsprung disease association.

Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, Ceccherini I, Lyonnet S, Sherman S, Chakravarti A: Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome – Hirschsprung disease association. Hum Mutat 30(5):771-775, 2009. PMID 19306335. PMC2779545.

Hirschsprung disease: associated syndromes and genetics.

Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R; Hirschsprung Disease Consortium: Hirschsprung disease: associated syndromes and genetics. J Med Genet 45:1-14, 2008. PMID 17965226.

Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer.

Grice E, Rochelle ES, Green ED, Chakravarti A, McCallion AS: Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer. Hum Mol Genet 14:3837-3845, 2005. PMID 16269442.

Genotype-Phenotype correlation in Hirschsprung disease illuminated by comparative RET protein sequence analysis.

Kashuk CS, Stone EA, Grice EA, Portnoy ME, Green ED, Sidow A, Chakravarti A, McCallion AS: Genotype-Phenotype correlation in Hirschsprung disease illuminated by comparative RET protein sequence analysis. P Natl Acad Sci USA 102:8949-8954, 2005. PMID 15956201. PMC1157046.

A common, sex-dependent mutation in a putative 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: A common, sex-dependent mutation in a putative RET enhancer underlies Hirschsprung disease risk. Nature 434:857-863, 2005. PMID 15829955.

Genomic variation in multigenic traits: Hirschsprung disease.

McCallion AS, Sproat-Emison EE, Kashuk CS, Bush RT, Kenton M, Carrasquillo MM, Jones KW, Kennedy GC, Portnoy M, Green E, Chakravarti A: Genomic variation in multigenic traits: Hirschsprung disease. Cold Spring Harb Sym LXVIII 373-381, 2003. PMID 15338639.

Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between Ret and Ednrb.

McCallion AS, Stames E, Conlon RA, Chakravarti A: Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between Ret and Ednrb. P Natl Acad Sci USA 100:1826-1831, 2003. PMID 12574515. PMC149918.

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease.

Carrasquillo MM, McCallion AS, Puffenberger EG, Kashuk CS, Nouri N, Chakravarti A: Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 32:237-244, 2002. PMID 12355085.

Chronic constipation due to Hirschsprung’s disease and desmosis coli in a single family.

Marshall DG, Meier-Ruge WA, Chakravarti A, Langer JC: Chronic constipation due to Hirschsprung’s disease and desmosis coli in a single family. Pediatr Surg Int 18:110-114, 2002. PMID 11956774.

Splitting a multigenic disease: segregation at three loci explains sibling recurrence risk in Hirschsprung disease.

Bolk Gabriel S, Salomon R, Pelet A, Angrist M, Amiel J, Attie-Bitach T, Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, Chakravarti A: Splitting a multigenic disease: segregation at three loci explains sibling recurrence risk in Hirschsprung disease. Nat Genet 31:89-93, 2002. PMID 1195374.