| Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus PQ Duy, SC Weise, C Marini, XJ Li, D Liang, PJ Dahl, S Ma, A Spajic, ... Nature neuroscience 25 (4), 458-473, 2022 | 74 | 2022 |
| The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus SM Robert, BC Reeves, E Kiziltug, PQ Duy, JK Karimy, MS Mansuri, ... Cell 186 (4), 764-785. e21, 2023 | 68 | 2023 |
| Contribution of somatic Ras/Raf/mitogen-activated protein kinase variants in the hippocampus in drug-resistant mesial temporal lobe epilepsy S Khoshkhoo, Y Wang, Y Chahine, EZ Erson-Omay, SM Robert, E Kiziltug, ... JAMA neurology 80 (6), 578-587, 2023 | 48 | 2023 |
| Exome sequencing implicates impaired GABA signaling and neuronal ion transport in trigeminal neuralgia W Dong, SC Jin, A Allocco, X Zeng, AH Sheth, S Panchagnula, ... IScience 23 (10), 2020 | 37 | 2020 |
| Inflammatory hydrocephalus SM Robert, BC Reeves, A Marlier, PQ Duy, T DeSpenza, A Kundishora, ... Child's Nervous System 37 (11), 3341-3353, 2021 | 23 | 2021 |
| EGFR signaling termination via numb trafficking in ependymal progenitors controls postnatal neurogenic niche differentiation K Abdi, G Neves, J Pyun, E Kiziltug, A Ahrens, CT Kuo Cell reports 28 (8), 2012-2022. e4, 2019 | 22 | 2019 |
| Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations S Zhao, KY Mekbib, MA van der Ent, G Allington, A Prendergast, JE Chau, ... Nature communications 14 (1), 7452, 2023 | 16 | 2023 |
| High-throughput combined voltage-clamp/current-clamp analysis of freshly isolated neurons MR Ghovanloo, S Tyagi, P Zhao, E Kiziltug, M Estacion, SD Dib-Hajj, ... Cell Reports Methods 3 (1), 2023 | 16 | 2023 |
| De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis AT Timberlake, E Kiziltug, SC Jin, C Nelson-Williams, E Loring, ... Human Genetics 142 (1), 21-32, 2023 | 15 | 2023 |
| De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis AT Timberlake, S McGee, G Allington, E Kiziltug, EM Wolfe, AL Stiegler, ... The American Journal of Human Genetics 110 (5), 846-862, 2023 | 14 | 2023 |
| Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus G Allington, PQ Duy, J Ryou, A Singh, E Kiziltug, SM Robert, ... Journal of Neurosurgery: Pediatrics 29 (2), 168-177, 2021 | 12 | 2021 |
| Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts AJ Kundishora, G Allington, S McGee, KY Mekbib, V Gainullin, ... Nature medicine 29 (3), 667-678, 2023 | 10 | 2023 |
| Rare pathogenic variants in WNK3 cause X-linked intellectual disability S Küry, J Zhang, T Besnard, A Caro-Llopis, X Zeng, SM Robert, SS Josiah, ... Genetics in Medicine 24 (9), 1941-1951, 2022 | 9 | 2022 |
| A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus AK Singh, G Allington, S Viviano, S McGee, E Kiziltug, S Ma, S Zhao, ... Brain 147 (4), 1553-1570, 2024 | 6 | 2024 |
| Concurrent impact of de novo mutations on cranial and cortical development in nonsyndromic craniosynostosis E Kiziltug, PQ Duy, G Allington, AT Timberlake, R Kawaguchi, AS Long, ... Journal of Neurosurgery: Pediatrics 33 (1), 59-72, 2023 | 5 | 2023 |
| Utility of cortical tissue analysis in normal pressure hydrocephalus ABW Greenberg, KY Mekbib, NH Mehta, E Kiziltug, PQ Duy, HR Smith, ... Cerebral Cortex 34 (2), bhae001, 2024 | 4 | 2024 |
| Cases of familial idiopathic normal pressure hydrocephalus implicate genetic factors in disease pathogenesis ABW Greenberg, NH Mehta, KY Mekbib, E Kiziltug, HR Smith, BT Hyman, ... Cerebral Cortex 33 (23), 11400-11407, 2023 | 4 | 2023 |
| Somatic Ras/Raf/MAPK variants enriched in the Hippocampus in drug-resistant mesial temporal lobe epilepsy S Khoshkhoo, Y Wang, Y Chahine, EZ Erson-Omay, S Robert, E Kiziltug, ... medRxiv, 2022.12. 23.22283854, 2022 | 4 | 2022 |
| Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics T DeSpenza Jr, A Singh, G Allington, S Zhao, J Lee, E Kiziltug, ML Prina, ... Proceedings of the National Academy of Sciences 121 (27), e2314702121, 2024 | 2 | 2024 |
| A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus AK Singh, S Viviano, G Allington, S McGee, E Kiziltug, KY Mekbib, ... medRxiv, 2023 | 1 | 2023 |
