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Page 1
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
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. Emison ES, et al. Among authors: kashuk c. Am J Hum Genet. 2010 Jul 9;87(1):60-74. doi: 10.1016/j.ajhg.2010.06.007. Am J Hum Genet. 2010. PMID: 20598273 Free PMC article.
Hirschsprung disease, associated syndromes and genetics: a review.
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. Amiel J, et al. Among authors: kashuk c. J Med Genet. 2008 Jan;45(1):1-14. doi: 10.1136/jmg.2007.053959. Epub 2007 Oct 26. J Med Genet. 2008. PMID: 17965226 Review.
Genomic variation in multigenic traits: Hirschsprung disease.
McCallion AS, Emison ES, Kashuk CS, Bush RT, Kenton M, Carrasquillo MM, Jones KW, Kennedy GC, Portnoy ME, Green ED, Chakravarti A. McCallion AS, et al. Among authors: kashuk cs. Cold Spring Harb Symp Quant Biol. 2003;68:373-81. doi: 10.1101/sqb.2003.68.373. Cold Spring Harb Symp Quant Biol. 2003. PMID: 15338639 No abstract available.
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.
Arking DE, Pfeufer A, Post W, Kao WH, Newton-Cheh C, Ikeda M, West K, Kashuk C, Akyol M, Perz S, Jalilzadeh S, Illig T, Gieger C, Guo CY, Larson MG, Wichmann HE, Marbán E, O'Donnell CJ, Hirschhorn JN, Kääb S, Spooner PM, Meitinger T, Chakravarti A. Arking DE, et al. Among authors: kashuk c. Nat Genet. 2006 Jun;38(6):644-51. doi: 10.1038/ng1790. Epub 2006 Apr 30. Nat Genet. 2006. PMID: 16648850
High-throughput variation detection and genotyping using microarrays.
Cutler DJ, Zwick ME, Carrasquillo MM, Yohn CT, Tobin KP, Kashuk C, Mathews DJ, Shah NA, Eichler EE, Warrington JA, Chakravarti A. Cutler DJ, et al. Among authors: kashuk c. Genome Res. 2001 Nov;11(11):1913-25. doi: 10.1101/gr.197201. Genome Res. 2001. PMID: 11691856 Free PMC article.
16 results