| Pluripotency of mesenchymal stem cells derived from adult marrow Y Jiang, BN Jahagirdar, RL Reinhardt, RE Schwartz, CD Keene, ... Nature 418 (6893), 41, 2002 | 8682 | 2002 |
| Circadian clock proteins regulate neuronal redox homeostasis and neurodegeneration ES Musiek, MM Lim, G Yang, AQ Bauer, L Qi, Y Lee, JH Roh, ... The Journal of clinical investigation 123 (12), 5389, 2013 | 463 | 2013 |
| KCNQ2 encephalopathy Features, mutational hot spots, and ezogabine treatment of 11 patients JJ Millichap, KL Park, T Tsuchida, B Ben-Zeev, L Carmant, R Flamini, ... Neurology Genetics 2 (5), e96, 2016 | 205 | 2016 |
| An acid sensing ion channel (ASIC) localizes to small primary afferent neurons in rats TH Olson, MS Riedl, L Vulchanova, XR Ortiz-Gonzalez, R Elde Neuroreport 9 (6), 1109-1113, 1998 | 175 | 1998 |
| Thymidine analogs are transferred from prelabeled donor to host cells in the central nervous system after transplantation: a word of caution TC Burns, XR Ortiz‐González, M Gutiérrez‐Pérez, CD Keene, R Sharda, ... Stem cells 24 (4), 1121-1127, 2006 | 174 | 2006 |
| Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss AJ Tanaka, MT Cho, F Millan, J Juusola, K Retterer, C Joshi, D Niyazov, ... The American Journal of Human Genetics 97 (3), 457-464, 2015 | 173 | 2015 |
| GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers D Li, H Yuan, XR Ortiz-Gonzalez, ED Marsh, L Tian, EM McCormick, ... The American Journal of Human Genetics 99 (4), 802-816, 2016 | 156 | 2016 |
| Neural differentiation and incorporation of bone marrow-derived multipotent adult progenitor cells after single cell transplantation into blastocyst stage mouse embryos CD Keene, XR Ortiz-Gonzalez, Y Jiang, DA Largaespada, CM Verfaillie, ... Cell transplantation 12 (3), 201-213, 2003 | 153 | 2003 |
| Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup KA Strauss, L DuBiner, M Simon, M Zaragoza, PP Sengupta, P Li, ... Proceedings of the National Academy of Sciences 110 (9), 3453-3458, 2013 | 107 | 2013 |
| De novo GABRG2 mutations associated with epileptic encephalopathies D Shen, CC Hernandez, W Shen, N Hu, A Poduri, B Shiedley, ... Brain 140 (1), 49-67, 2016 | 98 | 2016 |
| Neural induction of adult bone marrow and umbilical cord stem cells XR Ortiz-Gonzalez, CD Keene, CM Verfaillie, WC Low Current neurovascular research 1 (3), 207-213, 2004 | 96 | 2004 |
| Modeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1A FL Cardenas-Diaz, C Osorio-Quintero, MA Diaz-Miranda, S Kishore, ... Cell stem cell 25 (2), 273-289. e5, 2019 | 72 | 2019 |
| De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder LS Blok, SM Hiatt, KM Bowling, JW Prokop, KL Engel, JN Cochran, ... Human genetics, 1-14, 2018 | 65 | 2018 |
| Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development MC Whitman, C Andrews, WM Chan, MA Tischfield, SF Stasheff, ... American Journal of Medical Genetics Part A 170 (2), 297-305, 2016 | 65 | 2016 |
| IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients C Mignot, AC McMahon, C Bar, PM Campeau, C Davidson, J Buratti, ... Genetics in Medicine, 1, 2018 | 57 | 2018 |
| Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome YA Zarate, CL Smith‐Hicks, C Greene, MA Abbott, VM Siu, ... American Journal of Medical Genetics Part A 176 (4), 925-935, 2018 | 57 | 2018 |
| Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila J Straub, EDH Konrad, J Grüner, A Toutain, LA Bok, MT Cho, ... The American Journal of Human Genetics, 2017 | 57 | 2017 |
| βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy CC Wang, XR Ortiz-González, SW Yum, SM Gill, A White, E Kelter, ... The American Journal of Human Genetics, 2018 | 56 | 2018 |
| Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy JX Chong, V Caputo, IG Phelps, L Stella, L Worgan, JC Dempsey, ... The American Journal of Human Genetics 98 (4), 772-781, 2016 | 55 | 2016 |
| NIPBL+/− haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states JA Mills, PS Herrera, M Kaur, L Leo, D McEldrew, JA Tintos-Hernandez, ... Scientific reports 8 (1), 1056, 2018 | 37 | 2018 |
C. Dirk Keene, MD, PhDNancy and Buster Alvord Endowed Chair and Director of Neuropathology, University of WashingtonVahvistettu sähköpostiosoite verkkotunnuksessa uw.edu
