| 1 | GOSHS, KIFBP
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| KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
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| Drévillon L, Megarbane A, Demeer B, Matar C, Benit P, Briand-Suleau A, Bodereau V, Ghoumid J, Nasser M, Decrouy X, Doco-Fenzy M, Rustin P, Gaillard D, Goossens M, Giurgea I.
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| Hum Mol Genet 22(12):2387-99. doi: 10.1093/hmg/ddt083. Epub 2013 Feb 19. 2013
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| 2 | GOSHS, KIFBP, STMN2
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| KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.
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| Alves MM, Burzynski G, Delalande JM, Osinga J, van der Goot A, Dolga AM, de Graaff E, Brooks AS, Metzger M, Eisel UL, Shepherd I, Eggen BJ, Hofstra RM.
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| Hum Mol Genet 19(18):3642-51. Epub 2010 Jul 9.PMID: 20621975 2010
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| 3 | CCHS1, CCHS3, CHH, GOSHS, HSCR1, HSCR2, HSCR3, HSCR4, HSCR5, MOWS, PCWH, WS4B, WS4A
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| Hirschsprung disease, associated syndromes and genetics: a review.
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| 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.
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| J Med Genet 45(1):1-14. Epub 2007 Oct 26. Review. 2008
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| 4 | DEL1P36, DEL21QT, DEL4Q, DEL6QD, DUP2PD, EOMES, GOSHS, KIFBP, MPAC, RAB3GAP1, WARBM1
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| Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
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| Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG.
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| Am J Med Genet A 146A(13):1637-54. 2008
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| 5 | GOSHS, KIFBP
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| KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome.
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| Lyons DA, Naylor SG, Mercurio S, Dominguez C, Talbot WS.
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| Development 135(3):599-608.PMID: 18192286 2008
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| 6 | GOSHS, KIFBP
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| Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
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| Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM.
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| Am J Hum Genet 77(1):120-6. Epub 2005 May 9. 2005
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