Ashleigh E. Schaffer, Ph.D. - Publications

2010 Biological Sciences - Ph.D. University of California, Irvine, Irvine, CA 
Human Development, Genetics, Cell Biology

12 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2015 Baek ST, Copeland B, Yun EJ, Kwon SK, Guemez-Gamboa A, Schaffer AE, Kim S, Kang HC, Song S, Mathern GW, Gleeson JG. An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development. Nature Medicine. PMID 26523971 DOI: 10.1038/nm.3982  0.44
2015 Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, et al. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genetics. 47: 528-34. PMID 25848753 DOI: 10.1038/ng.3256  0.44
2014 Mishra-Gorur K, Ça?layan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümü? GT, Nishimura S, Han W, Tu S, Baran B, Gümü? H, Dilber C, Zaki MS, Hossni HA, et al. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron. 84: 1226-39. PMID 25521378 DOI: 10.1016/j.neuron.2014.12.014  0.44
2014 Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K, Rosti RO, Abdellateef M, Caglar C, Kasher PR, Cazemier JL, et al. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell. 157: 651-63. PMID 24766810 DOI: 10.1016/j.cell.2014.03.049  0.44
2014 Ismail S, Schaffer AE, Rosti RO, Gleeson JG, Zaki MS. Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. Gene. 539: 279-82. PMID 24530477 DOI: 10.1016/j.gene.2014.01.070  0.44
2013 Schaffer AE, Taylor BL, Benthuysen JR, Liu J, Thorel F, Yuan W, Jiao Y, Kaestner KH, Herrera PL, Magnuson MA, May CL, Sander M. Nkx6.1 controls a gene regulatory network required for establishing and maintaining pancreatic Beta cell identity. Plos Genetics. 9: e1003274. PMID 23382704 DOI: 10.1371/journal.pgen.1003274  0.44
2012 Abdel-Salam GM, Schaffer AE, Zaki MS, Dixon-Salazar T, Mostafa IS, Afifi HH, Gleeson JG. A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). American Journal of Medical Genetics. Part A. 158: 2788-96. PMID 22991235 DOI: 10.1002/ajmg.a.35583  0.44
2012 Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, et al. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 4: 138ra78. PMID 22700954 DOI: 10.1126/scitranslmed.3003544  0.44
2011 Schaffer AE, Yang AJ, Thorel F, Herrera PL, Sander M. Transgenic overexpression of the transcription factor Nkx6.1 in β-cells of mice does not increase β-cell proliferation, β-cell mass, or improve glucose clearance. Molecular Endocrinology (Baltimore, Md.). 25: 1904-14. PMID 21964593 DOI: 10.1210/me.2011-1010  0.44
2011 Kopp JL, Dubois CL, Schaffer AE, Hao E, Shih HP, Seymour PA, Ma J, Sander M. Sox9+ ductal cells are multipotent progenitors throughout development but do not produce new endocrine cells in the normal or injured adult pancreas. Development (Cambridge, England). 138: 653-65. PMID 21266405 DOI: 10.1242/dev.056499  0.44
2010 Schaffer AE, Freude KK, Nelson SB, Sander M. Nkx6 transcription factors and Ptf1a function as antagonistic lineage determinants in multipotent pancreatic progenitors. Developmental Cell. 18: 1022-9. PMID 20627083 DOI: 10.1016/j.devcel.2010.05.015  0.44
2007 Nelson SB, Schaffer AE, Sander M. The transcription factors Nkx6.1 and Nkx6.2 possess equivalent activities in promoting beta-cell fate specification in Pdx1+ pancreatic progenitor cells. Development (Cambridge, England). 134: 2491-500. PMID 17537793 DOI: 10.1242/dev.002691  0.44
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