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Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.
Jin SC, Dong W, Kundishora AJ, Panchagnula S, Moreno-De-Luca A, Furey CG, Allocco AA, Walker RL, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zeng X, Sierant MC, Knight JR, Sullivan W, Duy PQ, DeSpenza T, Reeves BC, Karimy JK, Marlier A, Castaldi C, Tikhonova IR, Li B, Peña HP, Broach JR, Kabachelor EM, Ssenyonga P, Hehnly C, Ge L, Keren B, Timberlake AT, Goto J, Mangano FT, Johnston JM, Butler WE, Warf BC, Smith ER, Schiff SJ, Limbrick DD Jr, Heuer G, Jackson EM, Iskandar BJ, Mane S, Haider S, Guclu B, Bayri Y, Sahin Y, Duncan CC, Apuzzo MLJ, DiLuna ML, Hoffman EJ, Sestan N, Ment LR, Alper SL, Bilguvar K, Geschwind DH, Günel M, Lifton RP, Kahle KT. Jin SC, et al. Among authors: reeves bc. Nat Med. 2020 Nov;26(11):1754-1765. doi: 10.1038/s41591-020-1090-2. Epub 2020 Oct 19. Nat Med. 2020. PMID: 33077954 Free PMC article.
Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3.
Allocco AA, Jin SC, Duy PQ, Furey CG, Zeng X, Dong W, Nelson-Williams C, Karimy JK, DeSpenza T, Hao LT, Reeves B, Haider S, Gunel M, Lifton RP, Kahle KT. Allocco AA, et al. Front Cell Neurosci. 2019 Sep 26;13:425. doi: 10.3389/fncel.2019.00425. eCollection 2019. Front Cell Neurosci. 2019. PMID: 31616254 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. Among authors: reeves bc. 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.
Inflammation in acquired hydrocephalus: pathogenic mechanisms and therapeutic targets.
Karimy JK, Reeves BC, Damisah E, Duy PQ, Antwi P, David W, Wang K, Schiff SJ, Limbrick DD Jr, Alper SL, Warf BC, Nedergaard M, Simard JM, Kahle KT. Karimy JK, et al. Among authors: reeves bc. Nat Rev Neurol. 2020 May;16(5):285-296. doi: 10.1038/s41582-020-0321-y. Epub 2020 Mar 9. Nat Rev Neurol. 2020. PMID: 32152460 Free PMC article. Review.
Targeting TLR4-dependent inflammation in post-hemorrhagic brain injury.
Karimy JK, Reeves BC, Kahle KT. Karimy JK, et al. Among authors: reeves bc. Expert Opin Ther Targets. 2020 Jun;24(6):525-533. doi: 10.1080/14728222.2020.1752182. Epub 2020 Apr 17. Expert Opin Ther Targets. 2020. PMID: 32249624 Free PMC article. Review.
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. Among authors: reeves bc. 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.
327 results