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Long COVID-19 Liver Manifestation in Children.
Cooper S, Tobar A, Konen O, Orenstein N, Kropach Gilad N, Landau YE, Mozer-Glassberg Y, Bar-Lev MR, Shaoul R, Shamir R, Waisbourd-Zinman O. Cooper S, et al. Among authors: orenstein n. J Pediatr Gastroenterol Nutr. 2022 Sep 1;75(3):244-251. doi: 10.1097/MPG.0000000000003521. Epub 2022 Aug 9. J Pediatr Gastroenterol Nutr. 2022. PMID: 35687535
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monté D, Salmon-Divon M, Behar DM. Basel-Vanagaite L, et al. Among authors: orenstein n. Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20. Hum Genet. 2015. PMID: 25792360 Clinical Trial.
Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes With Hearing Loss as the Primary Presentation, Responsive to Anti-Interleukin-1 Therapy.
Birk-Bachar M, Cohen H, Sofrin-Drucker E, Kropach-Gilad N, Orenstein N, Lidzbarsky G, Kornreich L, Tal R, Amarilyo G, Levinsky Y, Sokolov M, Raveh E, Gerlic M, Harel L. Birk-Bachar M, et al. Among authors: orenstein n. Arthritis Rheumatol. 2024 Mar;76(3):444-454. doi: 10.1002/art.42721. Epub 2024 Jan 9. Arthritis Rheumatol. 2024. PMID: 37738164
Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2.
Steinberg-Shemer O, Yacobovich J, Noy-Lotan S, Dgany O, Krasnov T, Barg A, Landau YE, Kneller K, Somech R, Gilad O, Brik Simon D, Orenstein N, Izraeli S, Del Caño-Ochoa F, Tamary H, Ramón-Maiques S. Steinberg-Shemer O, et al. Among authors: orenstein n. Br J Haematol. 2024 Mar;204(3):1067-1071. doi: 10.1111/bjh.19215. Epub 2023 Nov 20. Br J Haematol. 2024. PMID: 37984840
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.
Weisz-Hubshman M, Meirson H, Michaelson-Cohen R, Beeri R, Tzur S, Bormans C, Modai S, Shomron N, Shilon Y, Banne E, Orenstein N, Konen O, Marek-Yagel D, Veber A, Shalva N, Imagawa E, Matsumoto N, Lev D, Lerman Sagie T, Raas-Rothschild A, Ben-Zeev B, Basel-Salmon L, Behar DM, Heimer G. Weisz-Hubshman M, et al. Among authors: orenstein n. Eur J Paediatr Neurol. 2019 May;23(3):418-426. doi: 10.1016/j.ejpn.2019.02.003. Epub 2019 Feb 19. Eur J Paediatr Neurol. 2019. PMID: 30853297
Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.
Toledano H, Orenstein N, Sofrin E, Ruhrman-Shahar N, Amarilyo G, Basel-Salmon L, Shuldiner AR, Smirin-Yosef P, Aronson M, Al-Tarrah H, Bazak L, Gonzaga-Jauregui C, Tabori U, Wimmer K, Goldberg Y. Toledano H, et al. Among authors: orenstein n. J Med Genet. 2020 Jul;57(7):505-508. doi: 10.1136/jmedgenet-2019-106303. Epub 2019 Sep 9. J Med Genet. 2020. PMID: 31501241
64 results