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Page 1
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
DeSpenza T Jr, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina ML, Desmet N, Dang HQ, Fields J, Nelson-Williams C, Zhang J, Mekbib KY, Dennis E, Mehta NH, Duy PQ, Shimelis H, Walsh LK, Marlier A, Deniz E, Lake EMR, Constable RT, Hoffman EJ, Lifton RP, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper SL, Jin SC, Kahle KT, Luikart BW. DeSpenza T Jr, et al. Among authors: kiziltug e. Proc Natl Acad Sci U S A. 2024 Jul 2;121(27):e2314702121. doi: 10.1073/pnas.2314702121. Epub 2024 Jun 25. Proc Natl Acad Sci U S A. 2024. PMID: 38916997
Utility of cortical tissue analysis in normal pressure hydrocephalus.
Greenberg ABW, Mekbib KY, Mehta NH, Kiziltug E, Duy PQ, Smith HR, Junkkari A, Leinonen V, Hyman BT, Chan D, Curry WT Jr, Arnold SE, Barker Ii FG, Frosch MP, Kahle KT. Greenberg ABW, et al. Among authors: kiziltug e. Cereb Cortex. 2024 Jan 31;34(2):bhae001. doi: 10.1093/cercor/bhae001. Cereb Cortex. 2024. PMID: 38275188
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Singh AK, Allington G, Viviano S, McGee S, Kiziltug E, Ma S, Zhao S, Mekbib KY, Shohfi JP, Duy PQ, DeSpenza T Jr, Furey CG, Reeves BC, Smith H, Sousa AMM, Cherskov A, Allocco A, Nelson-Williams C, Haider S, Rizvi SRA, Alper SL, Sestan N, Shimelis H, Walsh LK, Lifton RP, Moreno-De-Luca A, Jin SC, Kruszka P, Deniz E, Kahle KT. Singh AK, et al. Among authors: kiziltug e. Brain. 2024 Apr 4;147(4):1553-1570. doi: 10.1093/brain/awad405. Brain. 2024. PMID: 38128548
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
Zhao S, Mekbib KY, van der Ent MA, Allington G, Prendergast A, Chau JE, Smith H, Shohfi J, Ocken J, Duran D, Furey CG, Hao LT, Duy PQ, Reeves BC, Zhang J, Nelson-Williams C, Chen D, Li B, Nottoli T, Bai S, Rolle M, Zeng X, Dong W, Fu PY, Wang YC, Mane S, Piwowarczyk P, Fehnel KP, See AP, Iskandar BJ, Aagaard-Kienitz B, Moyer QJ, Dennis E, Kiziltug E, Kundishora AJ, DeSpenza T Jr, Greenberg ABW, Kidanemariam SM, Hale AT, Johnston JM, Jackson EM, Storm PB, Lang SS, Butler WE, Carter BS, Chapman P, Stapleton CJ, Patel AB, Rodesch G, Smajda S, Berenstein A, Barak T, Erson-Omay EZ, Zhao H, Moreno-De-Luca A, Proctor MR, Smith ER, Orbach DB, Alper SL, Nicoli S, Boggon TJ, Lifton RP, Gunel M, King PD, Jin SC, Kahle KT. Zhao S, et al. Among authors: kiziltug e. Nat Commun. 2023 Nov 17;14(1):7452. doi: 10.1038/s41467-023-43062-z. Nat Commun. 2023. PMID: 37978175 Free PMC article.
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.
Khoshkhoo S, Wang Y, Chahine Y, Erson-Omay EZ, Robert SM, Kiziltug E, Damisah EC, Nelson-Williams C, Zhu G, Kong W, Huang AY, Stronge E, Phillips HW, Chhouk BH, Bizzotto S, Chen MH, Adikari TN, Ye Z, Witkowski T, Lai D, Lee N, Lokan J, Scheffer IE, Berkovic SF, Haider S, Hildebrand MS, Yang E, Gunel M, Lifton RP, Richardson RM, Blümcke I, Alexandrescu S, Huttner A, Heinzen EL, Zhu J, Poduri A, DeLanerolle N, Spencer DD, Lee EA, Walsh CA, Kahle KT. Khoshkhoo S, et al. Among authors: kiziltug e. JAMA Neurol. 2023 Jun 1;80(6):578-587. doi: 10.1001/jamaneurol.2023.0473. JAMA Neurol. 2023. PMID: 37126322 Free PMC article.
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
Timberlake AT, McGee S, Allington G, Kiziltug E, Wolfe EM, Stiegler AL, Boggon TJ, Sanyoura M, Morrow M, Wenger TL, Fernandes EM, Caluseriu O, Persing JA, Jin SC, Lifton RP, Kahle KT, Kruszka P. Timberlake AT, et al. Among authors: kiziltug e. Am J Hum Genet. 2023 May 4;110(5):846-862. doi: 10.1016/j.ajhg.2023.03.017. Epub 2023 Apr 21. Am J Hum Genet. 2023. PMID: 37086723 Free PMC article.
A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.
Singh AK, Viviano S, Allington G, McGee S, Kiziltug E, Mekbib KY, Shohfi JP, Duy PQ, DeSpenza T, Furey CG, Reeves BC, Smith H, Ma S, Sousa AMM, Cherskov A, Allocco A, Nelson-Williams C, Haider S, Rizvi SRA, Alper SL, Sestan N, Shimelis H, Walsh LK, Lifton RP, Moreno-De-Luca A, Jin SC, Kruszka P, Deniz E, Kahle KT. Singh AK, et al. Among authors: kiziltug e. medRxiv [Preprint]. 2023 Mar 20:2023.03.19.23287455. doi: 10.1101/2023.03.19.23287455. medRxiv. 2023. Update in: Brain. 2024 Apr 4;147(4):1553-1570. doi: 10.1093/brain/awad405 PMID: 36993720 Free PMC article. Updated. Preprint.
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.
Kundishora AJ, Allington G, McGee S, Mekbib KY, Gainullin V, Timberlake AT, Nelson-Williams C, Kiziltug E, Smith H, Ocken J, Shohfi J, Allocco A, Duy PQ, Elsamadicy AA, Dong W, Zhao S, Wang YC, Qureshi HM, DiLuna ML, Mane S, Tikhonova IR, Fu PY, Castaldi C, López-Giráldez F, Knight JR, Furey CG, Carter BS, Haider S, Moreno-De-Luca A, Alper SL, Gunel M, Millan F, Lifton RP, Torene RI, Jin SC, Kahle KT. Kundishora AJ, et al. Among authors: kiziltug e. Nat Med. 2023 Mar;29(3):667-678. doi: 10.1038/s41591-023-02238-2. Epub 2023 Mar 6. Nat Med. 2023. PMID: 36879130
19 results