Hirschsprung Publications

1. Jiang Q, Turner T, Sosa MX, Rakha A, Arnold S, Chakravarti A: Rapid and efficient human mutation detection using a bench-top next generation DNA sequencer. Human Mutation 33(1):281-289, 2012. PMID 21898659

2. Jiang Q, Ho YY, Hao L, Nichols Berrios C, Chakravarti A: Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease. PLoS One 6(6):e21219, 2011. PMID 21712996

3. Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borrego S, McCallion AS, Chakravarti A. Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. American Journal of Human Genetics 87(1):60-74, 2010. PMID 20598273

4. 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. Human Mutation. 30(5):771-775, 2009. PMID 19306335

5. Grice EA, Rochelle ES, Green ED, Chakravarti A, McCallion AS. Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer. Human Molecular Genetics. Dec 15;14(24):3837-45, 2005. PMID 16269442

6. Kashuk CS, Stone EA, Grice EA, Portnoy ME, Green ED, Sidow A, Chakravarti A, McCallion A: Genotype : Phenotype correlation in Hirschsprung disease illuminated by comparative RET protein sequence analysis. Proceedings of the National Academy of Science (USA) 102:8949-8954, 2005. PMID 15956201

7. Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, Lin S, Portnoy ME, NISC Comparative Sequencing Program, Cutler DJ, GreenED, Chakravarti A: A common, sex-dependent mutation in a putative RET enhancer underlies Hirschsprung disease susceptibility. Nature 434:857-863, 2005. PMID 15829955

8. 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 Harbor Symposium on Quantitative Biology LXVIII 373-381, 2003. PMID 15338639

9. 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. Proceedings of the National Academy of Science (USA) 100:1826-1831, 2003. PMID 12574515

10. 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. Nature Genetics 32:237-244, 2002. PMID 12355085

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

12. 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. Nature Genetics 31:89-93, 2002. PMID 1195374

13. Weese-Mayer DE, Bolk S, Silvestri JM, Chakravarti A: Idiopathic Congenital Central Hypoventilation Syndrome: Evaluation of Brain-Derived Neurotrophic Factor Genomic DNA Sequence Variation. American Journal of Medical Genetics 107:306-310, 2002. PMID 11840487

14. Bolk S, Pelet A, Hofstra R, Angrist M, Salomon R, Croaker D, Buys C, Lyonnet S, Chakravarti A: A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proceedings of the National Academy of Science (USA) 97:268-273, 2000. PMID 10618407

15. Southard-Smith E, Angrist M, Ellison J, Agarwala R, Baxevanis A, Chakravarti A, Pavan W: The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Research 9: 215-225, 1999. PMID 10077527

16. Angrist M, Bolk S, Bentley K, Nallasamy S, Halushka M, Chakravarti A: Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10 and evaluation of its role in Hirschsprung disease. Oncogene 17:3065-3070, 1998. PMID 9881709

17. Angrist M, Jing S, Bolk St, Bentley K, Nallasamy S, Halushka M, Fox G, Chakravarti A: Human GFRA1: Cloning, mapping, genomic structure and evaluation as a candidate gene for Hirschsprung disease susceptibility. Genomics 48: 354-362, 1998. PMID 9545641

18. Angrist M, Bolk S, Halushka M, Lapchak P, and Chakravarti A: Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nature Genetics 14: 341-344, 1996. PMID 8896568

19. Bolk S, Xie J, Angrist M, Silvestri JM, Weese-Mayer DE, Yanagisawa M, Chakravarti A: Endothelin-3 (EDN3) mutation in a patient with Congenital Central Hypoventilation Syndrome. Nature Genetics 13:395-396, 1996. PMID 8696331

20. Hofstra RMW, Osinga J, Tan-Sindhunata G, Wu y, Kamsteeg EJ, Stulp RP, van Ravenswaaji-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CHM: A homozygous mutation in the human endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype. Nature Genetics 12:445-447, 1996. PMID 8630503

21. Bolk S, Angrist M, Schwartz S, Silvestri JM, Weese-Mayer DE, Chakravarti A: Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET. American Journal of Medical Genetics 63:603-609, 1996. PMID 8826440

22. Chakravarti A: Endothelin receptor-mediated signaling in Hirschsprung disease. Human Molecular Genetics 5:303-307, 1996. PMID 8852653

23. 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. Human Molecular Genetics 4:821-830, 1995. PMID 7633441

24. 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

25. 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. Human Molecular Genetics 3:1217-1225, 1994. PMID 7987295

26. 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. Nature Genetics 4:351-356, 1993. PMID 8401581

27. Badner JA, Sieber W, Garver KL, Chakravarti A: A genetic study of Hirschsprung disease. American Journal of Human Genetics 46:568-580, 1990. PMID 2309705

28. Badner JA, Chakravarti A: Waardenburg syndrome and Hirschsprung disease: Evidence for pleiotropic effects of a single dominant gene. American Journal of Medical Genetics 35:100-104, 1990. PMID 2301458