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Page 1
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Fichtman B, Harel T, Biran N, Zagairy F, Applegate CD, Salzberg Y, Gilboa T, Salah S, Shaag A, Simanovsky N, Ayoubieh H, Sobreira N, Punzi G, Pierri CL, Hamosh A, Elpeleg O, Harel A, Edvardson S. Fichtman B, et al. Among authors: zagairy f. Am J Hum Genet. 2019 Jul 3;105(1):48-64. doi: 10.1016/j.ajhg.2019.05.003. Epub 2019 Jun 6. Am J Hum Genet. 2019. PMID: 31178128 Free PMC article.
A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.
Cohen-Barak E, Danial-Farran N, Chervinsky E, Alimi-Kasem O, Zagairy F, Livneh I, Mawassi B, Hreish M, Khayat M, Lossos A, Meiner V, Ehilevitch N, Weiss K, Shalev S. Cohen-Barak E, et al. Among authors: zagairy f. J Med Genet. 2023 Mar;60(3):233-240. doi: 10.1136/jmedgenet-2022-108508. Epub 2022 Jun 16. J Med Genet. 2023. PMID: 35710109
Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor.
Cohen-Barak E, Toledano-Alhadef H, Danial-Farran N, Livneh I, Mwassi B, Hriesh M, Zagairy F, Gafni-Amsalem C, Bashir H, Khayat M, Warrour N, Sher O, Marom D, Postovsky S, Dujovny T, Ziv M, Shalev SA. Cohen-Barak E, et al. Among authors: zagairy f. Exp Dermatol. 2022 May;31(5):775-780. doi: 10.1111/exd.14514. Epub 2021 Dec 20. Exp Dermatol. 2022. PMID: 34913528