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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: alexandrescu s. JAMA Neurol. 2023 Jun 1;80(6):578-587. doi: 10.1001/jamaneurol.2023.0473. JAMA Neurol. 2023. PMID: 37126322 Free PMC article.
Somatic mutations in intracranial arteriovenous malformations.
Goss JA, Huang AY, Smith E, Konczyk DJ, Smits PJ, Sudduth CL, Stapleton C, Patel A, Alexandrescu S, Warman ML, Greene AK. Goss JA, et al. Among authors: alexandrescu s. PLoS One. 2019 Dec 31;14(12):e0226852. doi: 10.1371/journal.pone.0226852. eCollection 2019. PLoS One. 2019. PMID: 31891627 Free PMC article.
A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood.
Keywan C, Holm IA, Poduri A, Brownstein CA, Alexandrescu S, Chen J, Geffre C, Goldstein RD. Keywan C, et al. Among authors: alexandrescu s. Eur J Med Genet. 2020 Sep;63(9):104002. doi: 10.1016/j.ejmg.2020.104002. Epub 2020 Jul 8. Eur J Med Genet. 2020. PMID: 32652122 Free PMC article.
Genetic Determinants of Sudden Unexpected Death in Pediatrics.
Koh HY, Haghighi A, Keywan C, Alexandrescu S, Plews-Ogan E, Haas EA, Brownstein CA, Vargas SO, Haynes RL, Berry GT, Holm IA, Poduri AH, Goldstein RD. Koh HY, et al. Among authors: alexandrescu s. Genet Med. 2022 Apr;24(4):839-850. doi: 10.1016/j.gim.2021.12.004. Epub 2022 Jan 10. Genet Med. 2022. PMID: 35027292 Free PMC article.
Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.
Brownstein CA, Douard E, Haynes RL, Koh HY, Haghighi A, Keywan C, Martin B, Alexandrescu S, Haas EA, Vargas SO, Wojcik MH, Jacquemont S, Poduri AH, Goldstein RD, Holm IA. Brownstein CA, et al. Among authors: alexandrescu s. Adv Genet (Hoboken). 2022 Nov 7;4(1):2200012. doi: 10.1002/ggn2.202200012. eCollection 2023 Mar. Adv Genet (Hoboken). 2022. PMID: 36910592 Free PMC article.
Multiomic Analysis of Neuroinflammation and Occult Infection in Sudden Infant Death Syndrome.
Ramachandran PS, Okaty BW, Riehs M, Wapniarski A, Hershey D, Harb H, Zia M, Haas EA, Alexandrescu S, Sleeper LA, Vargas SO, Gorman MP, Campman S, Mena OJ, Levert K, Hyland K, Goldstein RD, Wilson MR, Haynes RL. Ramachandran PS, et al. Among authors: alexandrescu s. JAMA Neurol. 2024 Mar 1;81(3):240-247. doi: 10.1001/jamaneurol.2023.5387. JAMA Neurol. 2024. PMID: 38285456
Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors.
Ramkissoon SH, Bandopadhayay P, Hwang J, Ramkissoon LA, Greenwald NF, Schumacher SE, O'Rourke R, Pinches N, Ho P, Malkin H, Sinai C, Filbin M, Plant A, Bi WL, Chang MS, Yang E, Wright KD, Manley PE, Ducar M, Alexandrescu S, Lidov H, Delalle I, Goumnerova LC, Church AJ, Janeway KA, Harris MH, MacConaill LE, Folkerth RD, Lindeman NI, Stiles CD, Kieran MW, Ligon AH, Santagata S, Dubuc AM, Chi SN, Beroukhim R, Ligon KL. Ramkissoon SH, et al. Among authors: alexandrescu s. Neuro Oncol. 2017 Jul 1;19(7):986-996. doi: 10.1093/neuonc/now294. Neuro Oncol. 2017. PMID: 28104717 Free PMC article.
239 results