| Sox9+ ductal cells are multipotent progenitors throughout development but do not produce new endocrine cells in the normal or injured adult pancreas JL Kopp, CL Dubois, AE Schaffer, E Hao, HP Shih, PA Seymour, J Ma, ... Development 138 (4), 653-665, 2011 | 534 | 2011 |
| Nkx6 transcription factors and Ptf1a function as antagonistic lineage determinants in multipotent pancreatic progenitors AE Schaffer, KK Freude, SB Nelson, M Sander Developmental cell 18 (6), 1022-1029, 2010 | 335 | 2010 |
| Exome sequencing can improve diagnosis and alter patient management TJ Dixon-Salazar, JL Silhavy, N Udpa, J Schroth, S Bielas, AE Schaffer, ... Science translational medicine 4 (138), 138ra78-138ra78, 2012 | 293 | 2012 |
| Nkx6. 1 controls a gene regulatory network required for establishing and maintaining pancreatic Beta cell identity AE Schaffer, BL Taylor, JR Benthuysen, J Liu, F Thorel, W Yuan, Y Jiao, ... PLoS genetics 9 (1), e1003274, 2013 | 283 | 2013 |
| CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter, E Scott, NG Coufal, ... Cell 157 (3), 651-663, 2014 | 277 | 2014 |
| The transcription factors Nkx6.1 and Nkx6.2 possess equivalent activities in promoting beta-cell fate specification in Pdx1+ pancreatic progenitor cells SB Nelson, AE Schaffer, M Sander Development 134 (13), 2491-2500, 2007 | 140 | 2007 |
| Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction N Akizu, V Cantagrel, MS Zaki, L Al-Gazali, X Wang, RO Rosti, E Dikoglu, ... Nature genetics 47 (5), 528-534, 2015 | 139 | 2015 |
| Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors K Mishra-Gorur, AO Çağlayan, AE Schaffer, C Chabu, O Henegariu, ... Neuron 84 (6), 1226-1239, 2014 | 117 | 2014 |
| An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development ST Baek, B Copeland, EJ Yun, SK Kwon, A Guemez-Gamboa, ... Nature medicine 21 (12), 1445-1454, 2015 | 116 | 2015 |
| Requirements for endoderm and BMP signaling in sensory neurogenesis in zebrafish J Holzschuh, N Wada, C Wada, A Schaffer, Y Javidan, A Tallafuß, ... Oxford University Press for The Company of Biologists Limited 132 (16), 3731 …, 2005 | 98 | 2005 |
| Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing RM Lardelli, AE Schaffer, VRC Eggens, MS Zaki, S Grainger, S Sathe, ... Nature genetics 49 (3), 457-464, 2017 | 87 | 2017 |
| tRNA metabolism and neurodevelopmental disorders AE Schaffer, O Pinkard, JM Coller Annual review of genomics and human genetics 20, 359-387, 2019 | 73 | 2019 |
| Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration AE Schaffer, MW Breuss, AO Caglayan, N Al-Sanaa, HY Al-Abdulwahed, ... Nature genetics 50 (8), 1093-1101, 2018 | 70 | 2018 |
| A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS) GMH Abdel‐Salam, AE Schaffer, MS Zaki, T Dixon‐Salazar, IS Mostafa, ... American journal of medical genetics Part A 158 (11), 2788-2796, 2012 | 47 | 2012 |
| The RNA-binding protein, ZC3H14, is required for proper poly (A) tail length control, expression of synaptic proteins, and brain function in mice J Rha, SK Jones, J Fidler, A Banerjee, SW Leung, KJ Morris, JC Wong, ... Human Molecular Genetics 26 (19), 3663-3681, 2017 | 39 | 2017 |
| Adaptation to chronic ER stress enforces pancreatic β-cell plasticity CW Chen, BJ Guan, MR Alzahrani, Z Gao, L Gao, S Bracey, J Wu, ... Nature communications 13 (1), 4621, 2022 | 37 | 2022 |
| 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 AE Schaffer, AJ Yang, F Thorel, PL Herrera, M Sander Molecular Endocrinology 25 (11), 1904-1914, 2011 | 30 | 2011 |
| A Drosophila behavioral mutant, down and out (dao), is defective in an essential regulator of Erg potassium channels T Fergestad, H Sale, B Bostwick, A Schaffer, L Ho, GA Robertson, ... Proceedings of the National Academy of Sciences 107 (12), 5617-5621, 2010 | 13 | 2010 |
| Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration GR LaForce, JS Farr, J Liu, C Akesson, E Gumus, O Pinkard, HC Miranda, ... Neuron 110 (8), 1340-1357. e7, 2022 | 12 | 2022 |
| Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly S Ismail, AE Schaffer, RO Rosti, JG Gleeson, MS Zaki Gene 539 (2), 279-282, 2014 | 8 | 2014 |
