Ashleigh E. Schaffer, Ph.D.
Affiliations: | 2010 | Biological Sciences - Ph.D. | University of California, Irvine, Irvine, CA |
Area:
Human Development, Genetics, Cell BiologyGoogle:
"Ashleigh Schaffer"Parents
Sign in to add mentor| Maike Sander | grad student | 2010 | UC Irvine | |
| (Mechanisms of pancreas cell type specification.) | ||||
| Joseph G. Gleeson | post-doc | 2011-2017 | UCSD (Neurotree) | |
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Publications
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| Werren EA, LaForce GR, Srivastava A, et al. (2024) TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature Communications. 15: 1640 |
| Werren E, LaForce G, Srivast A, et al. (2023) Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome. Research Square |
| Rasheed A, Gumus E, Zaki M, et al. (2020) Bi-allelic variants cause delayed developmental milestones and intellectual disability. Journal of Medical Genetics |
| Schaffer AE, Pinkard O, Coller JM. (2019) tRNA Metabolism and Neurodevelopmental Disorders. Annual Review of Genomics and Human Genetics |
| Schaffer AE, Breuss MW, Caglayan AO, et al. (2018) Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nature Genetics |
| Rha J, Jones SK, Fidler J, et al. (2017) The RNA-binding Protein, ZC3H14, is Required for Proper Poly(A) Tail Length Control, Expression of Synaptic Proteins, and Brain Function in Mice. Human Molecular Genetics |
| Lardelli RM, Schaffer AE, Eggens VR, et al. (2017) Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics |
| Mishra-Gorur K, Çağlayan AO, Schaffer AE, et al. (2015) Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron. 85: 228 |
| Baek ST, Copeland B, Yun EJ, et al. (2015) An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development. Nature Medicine |
| Akizu N, Cantagrel V, Zaki MS, et al. (2015) Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nature Genetics. 47: 528-34 |