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VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.
Hadar N, Dolgin V, Oustinov K, Yogev Y, Poleg T, Safran A, Freund O, Agam N, Jean MM, Proskorovski-Ohayon R, Wormser O, Drabkin M, Halperin D, Eskin-Schwartz M, Narkis G, Sued-Hendrickson S, Aminov I, Gombosh M, Aharoni S, Birk OS. Hadar N, et al. Among authors: aharoni s. Hum Genet. 2024 May;143(5):695-701. doi: 10.1007/s00439-024-02671-4. Epub 2024 Apr 12. Hum Genet. 2024. PMID: 38607411
ZNF142 mutation causes sex-dependent neurologic disorder.
Proskorovski-Ohayon R, Eskin-Schwartz M, Shorer Z, Kadir R, Halperin D, Drabkin M, Yogev Y, Aharoni S, Hadar N, Cohen H, Eremenko E, Perez Y, Birk OS. Proskorovski-Ohayon R, et al. Among authors: aharoni s. J Med Genet. 2024 May 21;61(6):566-577. doi: 10.1136/jmg-2023-109447. J Med Genet. 2024. PMID: 38296634
CCL24 regulates biliary inflammation and fibrosis in primary sclerosing cholangitis.
Greenman R, Segal-Salto M, Barashi N, Hay O, Katav A, Levi O, Vaknin I, Aricha R, Aharoni S, Snir T, Mishalian I, Olam D, Amer J, Salhab A, Safadi R, Maor Y, Trivedi P, Weston CJ, Saffioti F, Hall A, Pinzani M, Thorburn D, Peled A, Mor A. Greenman R, et al. Among authors: aharoni s. JCI Insight. 2023 Jun 22;8(12):e162270. doi: 10.1172/jci.insight.162270. JCI Insight. 2023. PMID: 37345655 Free PMC article.
Evaluation of sputum cultures in children with spinal Muscular atrophy.
Levine H, Nevo Y, Katz J, Mussaffi H, Chodick G, Mei-Zahav M, Stafler P, Steuer G, Bar-On O, Mantin H, Prais D, Aharoni S. Levine H, et al. Among authors: aharoni s. Respir Med. 2023 Apr;209:107143. doi: 10.1016/j.rmed.2023.107143. Epub 2023 Feb 8. Respir Med. 2023. PMID: 36764497
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
Safran A, Proskorovski-Ohayon R, Eskin-Schwartz M, Yogev Y, Drabkin M, Eremenko E, Aharoni S, Freund O, Jean MM, Agam N, Hadar N, Loewenthal N, Staretz-Chacham O, Birk OS. Safran A, et al. Among authors: aharoni s. J Inherit Metab Dis. 2023 Jul;46(4):744-755. doi: 10.1002/jimd.12594. Epub 2023 Feb 9. J Inherit Metab Dis. 2023. PMID: 36695547
65 results