| Year |
Citation |
Score |
| 2024 |
Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, ... ... Schaffer AE, et al. TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature Communications. 15: 1640. PMID 38388531 DOI: 10.1038/s41467-024-45948-y |
0.693 |
|
| 2023 |
Werren E, LaForce G, Srivast A, Perillo D, Johnson K, Berger B, Regan S, Pfennig C, Baris S, de Munnik S, Pfundt R, Hebbar M, Heredia RJ, Karakoc-Aydiner E, Ozen A, ... ... Schaffer A, et al. Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome. Research Square. PMID 37720017 DOI: 10.21203/rs.3.rs-2126145/v1 |
0.693 |
|
| 2020 |
Rasheed A, Gumus E, Zaki M, Johnson K, Manzoor H, LaForce G, Ross D, McEvoy-Venneri J, Stanley V, Lee S, Virani A, Ben-Omran T, Gleeson JG, Naz S, Schaffer A. Bi-allelic variants cause delayed developmental milestones and intellectual disability. Journal of Medical Genetics. PMID 32439809 DOI: 10.1136/Jmedgenet-2020-106849 |
0.718 |
|
| 2019 |
Schaffer AE, Pinkard O, Coller JM. tRNA Metabolism and Neurodevelopmental Disorders. Annual Review of Genomics and Human Genetics. PMID 31082281 DOI: 10.1146/Annurev-Genom-083118-015334 |
0.428 |
|
| 2018 |
Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakçalan H, Yılmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, et al. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nature Genetics. PMID 30013181 DOI: 10.1038/S41588-018-0166-0 |
0.749 |
|
| 2017 |
Rha J, Jones SK, Fidler J, Banerjee A, Leung SW, Morris KJ, Wong JC, Inglis GAS, Shapiro L, Deng Q, Cutler AA, Hanif AM, Pardue MT, Schaffer A, Seyfried NT, et al. 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. PMID 28666327 DOI: 10.1093/Hmg/Ddx248 |
0.384 |
|
| 2017 |
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nature Genetics. PMID 28092684 DOI: 10.1038/Ng.3762 |
0.701 |
|
| 2015 |
Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HAA, et al. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron. 85: 228. PMID 29654772 DOI: 10.1016/J.Neuron.2014.12.046 |
0.595 |
|
| 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 |
0.761 |
|
| 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 |
0.753 |
|
| 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 |
0.655 |
|
| 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 |
0.775 |
|
| 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 |
0.634 |
|
| 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 |
0.589 |
|
| 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 |
0.645 |
|
| 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 |
0.696 |
|
| 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 |
0.561 |
|
| 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 |
0.589 |
|
| 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 |
0.594 |
|
| 2010 |
Fergestad T, Sale H, Bostwick B, Schaffer A, Ho L, Robertson GA, Ganetzky B. A Drosophila behavioral mutant, down and out (dao), is defective in an essential regulator of Erg potassium channels. Proceedings of the National Academy of Sciences of the United States of America. 107: 5617-21. PMID 20212103 DOI: 10.1073/Pnas.1001494107 |
0.329 |
|
| 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 |
0.587 |
|
| 2005 |
Holzschuh J, Wada N, Wada C, Schaffer A, Javidan Y, Tallafuss A, Bally-Cuif L, Schilling TF. Requirements for endoderm and BMP signaling in sensory neurogenesis in zebrafish. Development (Cambridge, England). 132: 3731-42. PMID 16077092 DOI: 10.1242/Dev.01936 |
0.311 |
|
| Show low-probability matches. |