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Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
MacKenzie KC, de Graaf BM, Syrimis A, Zhao Y, Brosens E, Mancini GMS, Schot R, Halley D, Wilke M, Vøllo A, Flinter F, Green A, Mansour S, Pilch J, Stark Z, Zamba-Papanicolaou E, Christophidou-Anastasiadou V, Hofstra RMW, Jongbloed JDH, Nicolaou N, Tanteles GA, Brooks AS, Alves MM. MacKenzie KC, et al. Hum Mutat. 2020 Nov;41(11):1906-1917. doi: 10.1002/humu.24097. Epub 2020 Sep 16. Hum Mutat. 2020. PMID: 32939943 Free PMC article.
Do RET somatic mutations play a role in Hirschsprung disease?
Brosens E, MacKenzie KC, Alves MM, Hofstra RMW. Brosens E, et al. Among authors: mackenzie kc. Genet Med. 2018 Nov;20(11):1477-1478. doi: 10.1038/gim.2018.6. Genet Med. 2018. PMID: 29493586 Free article. No abstract available.
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
Kuil LE, MacKenzie KC, Tang CS, Windster JD, Le TL, Karim A, de Graaf BM, van der Helm R, van Bever Y, Sloots CEJ, Meeussen C, Tibboel D, de Klein A, Wijnen RMH, Amiel J, Lyonnet S, Garcia-Barcelo MM, Tam PKH, Alves MM, Brooks AS, Hofstra RMW, Brosens E. Kuil LE, et al. Among authors: mackenzie kc. PLoS Genet. 2021 Aug 6;17(8):e1009698. doi: 10.1371/journal.pgen.1009698. eCollection 2021 Aug. PLoS Genet. 2021. PMID: 34358225 Free PMC article.
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.
MacKenzie KC, Garritsen R, Chauhan RK, Sribudiani Y, de Graaf BM, Rugenbrink T, Brouwer R, van Ijcken WFJ, de Blaauw I, Brooks AS, Sloots CEJ, Meeuwsen CJHM, Wijnen RM, Newgreen DF, Burns AJ, Hofstra RMW, Alves MM, Brosens E. MacKenzie KC, et al. Int J Mol Sci. 2021 Nov 16;22(22):12354. doi: 10.3390/ijms222212354. Int J Mol Sci. 2021. PMID: 34830235 Free PMC article.
The effect of maternal obesity on the offspring.
Williams CB, Mackenzie KC, Gahagan S. Williams CB, et al. Among authors: mackenzie kc. Clin Obstet Gynecol. 2014 Sep;57(3):508-15. doi: 10.1097/GRF.0000000000000043. Clin Obstet Gynecol. 2014. PMID: 24936914 Free PMC article. Review.