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Page 1
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: erson omay ez. Nat Commun. 2023 Nov 17;14(1):7452. doi: 10.1038/s41467-023-43062-z. Nat Commun. 2023. PMID: 37978175 Free PMC article.
PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.
Barak T, Ristori E, Ercan-Sencicek AG, Miyagishima DF, Nelson-Williams C, Dong W, Jin SC, Prendergast A, Armero W, Henegariu O, Erson-Omay EZ, Harmancı AS, Guy M, Gültekin B, Kilic D, Rai DK, Goc N, Aguilera SM, Gülez B, Altinok S, Ozcan K, Yarman Y, Coskun S, Sempou E, Deniz E, Hintzen J, Cox A, Fomchenko E, Jung SW, Ozturk AK, Louvi A, Bilgüvar K, Connolly ES Jr, Khokha MK, Kahle KT, Yasuno K, Lifton RP, Mishra-Gorur K, Nicoli S, Günel M. Barak T, et al. Nat Med. 2021 Dec;27(12):2165-2175. doi: 10.1038/s41591-021-01572-7. Epub 2021 Dec 9. Nat Med. 2021. PMID: 34887573 Free PMC article.
De novo MYH9 mutation in congenital scalp hemangioma.
Fomchenko EI, Duran D, Jin SC, Dong W, Erson-Omay EZ, Antwi P, Allocco A, Gaillard JR, Huttner A, Gunel M, DiLuna ML, Kahle KT. Fomchenko EI, et al. Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a002998. doi: 10.1101/mcs.a002998. Print 2018 Aug. Cold Spring Harb Mol Case Stud. 2018. PMID: 29903892 Free PMC article.
Novel EWSR1-VGLL1 fusion in a pediatric neuroepithelial neoplasm.
Kundishora AJ, Reeves BC, Nelson-Williams C, Hong CS, Gopal PP, Snuderl M, Kahle KT, Erson-Omay EZ. Kundishora AJ, et al. Clin Genet. 2020 May;97(5):791-792. doi: 10.1111/cge.13703. Epub 2020 Jan 16. Clin Genet. 2020. PMID: 31925773 No abstract available.
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: erson omay ez. JAMA Neurol. 2023 Jun 1;80(6):578-587. doi: 10.1001/jamaneurol.2023.0473. JAMA Neurol. 2023. PMID: 37126322 Free PMC article.
Dual activating FGFR1 mutations in pediatric pilomyxoid astrocytoma.
Fomchenko EI, Reeves BC, Sullivan W, Marks AM, Huttner A, Kahle KT, Erson-Omay EZ. Fomchenko EI, et al. Mol Genet Genomic Med. 2021 Feb;9(2):e1597. doi: 10.1002/mgg3.1597. Epub 2021 Jan 14. Mol Genet Genomic Med. 2021. PMID: 33448156 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33579976
Integrated genomic analyses of de novo pathways underlying atypical meningiomas.
Harmancı AS, Youngblood MW, Clark VE, Coşkun S, Henegariu O, Duran D, Erson-Omay EZ, Kaulen LD, Lee TI, Abraham BJ, Simon M, Krischek B, Timmer M, Goldbrunner R, Omay SB, Baranoski J, Baran B, Carrión-Grant G, Bai H, Mishra-Gorur K, Schramm J, Moliterno J, Vortmeyer AO, Bilgüvar K, Yasuno K, Young RA, Günel M. Harmancı AS, et al. Nat Commun. 2017 Feb 14;8:14433. doi: 10.1038/ncomms14433. Nat Commun. 2017. PMID: 28195122 Free PMC article.
61 results