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A novel intergenic ETnII-β insertion mutation causes multiple malformations in polypodia mice.
Lehoczky JA, Thomas PE, Patrie KM, Owens KM, Villarreal LM, Galbraith K, Washburn J, Johnson CN, Gavino B, Borowsky AD, Millen KJ, Wakenight P, Law W, Van Keuren ML, Gavrilina G, Hughes ED, Saunders TL, Brihn L, Nadeau JH, Innis JW. Lehoczky JA, et al. Among authors: millen kj. PLoS Genet. 2013;9(12):e1003967. doi: 10.1371/journal.pgen.1003967. Epub 2013 Dec 5. PLoS Genet. 2013. PMID: 24339789 Free PMC article.
Development and malformations of the cerebellum in mice.
Chizhikov V, Millen KJ. Chizhikov V, et al. Among authors: millen kj. Mol Genet Metab. 2003 Sep-Oct;80(1-2):54-65. doi: 10.1016/j.ymgme.2003.08.019. Mol Genet Metab. 2003. PMID: 14567957 Review.
The ZIC gene family in development and disease.
Grinberg I, Millen KJ. Grinberg I, et al. Among authors: millen kj. Clin Genet. 2005 Apr;67(4):290-6. doi: 10.1111/j.1399-0004.2005.00418.x. Clin Genet. 2005. PMID: 15733262 Review.
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
Wei AD, Wakenight P, Zwingman TA, Bard AM, Sahai N, Willemsen MH, Schelhaas HJ, Stegmann APA, Verhoeven JS, de Man SA, Wessels MW, Kleefstra T, Shinde DN, Helbig KL, Basinger A, Wagner VF, Rodriguez-Buritica D, Bryant E, Millichap JJ, Millen KJ, Dobyns WB, Ramirez JM, Kalume FK. Wei AD, et al. Among authors: millen kj. J Neurophysiol. 2022 Jul 1;128(1):40-61. doi: 10.1152/jn.00509.2021. Epub 2022 May 18. J Neurophysiol. 2022. PMID: 35583973 Free PMC article.
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns WB, Sherr EH. Sajan SA, et al. Among authors: millen kj. PLoS Genet. 2013;9(10):e1003823. doi: 10.1371/journal.pgen.1003823. Epub 2013 Oct 3. PLoS Genet. 2013. PMID: 24098143 Free PMC article.
108 results