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Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy.
J Cardiovasc Transl Res. 2023 Dec;16(6):1325-1331. doi: 10.1007/s12265-023-10461-y. Epub 2023 Nov 16.
J Cardiovasc Transl Res. 2023.
PMID: 37973666
Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.
Freund O, Elsana B, Agam N, Jean MM, Safran A, Poleg T, Roguin N, Gradstein L, Tsumi E, Birk OS.
Freund O, et al. Among authors: poleg t.
Am J Med Genet A. 2023 Nov;191(11):2768-2774. doi: 10.1002/ajmg.a.63359. Epub 2023 Aug 24.
Am J Med Genet A. 2023.
PMID: 37615310
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Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.
Shalom S, Ben-Yosef T, Sher I, Zag A, Rotenstreich Y, Poleg T, Birk OS, Gradstein L, Ehrenberg M, Deitch I, Mezer E, Hecht I, Pras E, Ramon D, Khateb S, Zur D, Newman H, Kharouba R, Goldenberg-Cohen N, Leibu R, Soudry S, Perlman I, Banin E, Sharon D.
Shalom S, et al. Among authors: poleg t.
JAMA Ophthalmol. 2024 May 16:e241461. doi: 10.1001/jamaophthalmol.2024.1461. Online ahead of print.
JAMA Ophthalmol. 2024.
PMID: 38753338
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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: poleg t.
Hum Genet. 2024 May;143(5):695-701. doi: 10.1007/s00439-024-02671-4. Epub 2024 Apr 12.
Hum Genet. 2024.
PMID: 38607411
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