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Page 1
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.
Eskin-Schwartz M, Seraidy S, Paz E, Molhem M, Ranza E, Antonarakis SE, Blanc X, Herman K, Benko WS, Libzon S, Ben Sira L, Fattal-Valevski A, Dolgin V, Birk OS, Kessel A, Bross P, Weiss C, Azem A, Zerem A. Eskin-Schwartz M, et al. J Med Genet. 2024 Nov 5:jmg-2024-109862. doi: 10.1136/jmg-2024-109862. Online ahead of print. J Med Genet. 2024. PMID: 39500555
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: eskin schwartz m. Hum Genet. 2024 May;143(5):695-701. doi: 10.1007/s00439-024-02671-4. Epub 2024 Apr 12. Hum Genet. 2024. PMID: 38607411
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies.
Abu Shtaya A, Kedar I, Bazak L, Basel-Salmon L, Barhom SF, Naftali M, Eskin-Schwartz M, Birk OS, Polager-Modan S, Keidar N, Reznick Levi G, Levi Z, Yablonski-Peretz T, Mahamid A, Segol O, Matar R, Bareli Y, Azoulay N, Goldberg Y. Abu Shtaya A, et al. Among authors: eskin schwartz m. Genes (Basel). 2024 Mar 13;15(3):355. doi: 10.3390/genes15030355. Genes (Basel). 2024. PMID: 38540414 Free PMC article. Review.
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: eskin schwartz m. J Med Genet. 2024 May 21;61(6):566-577. doi: 10.1136/jmg-2023-109447. J Med Genet. 2024. PMID: 38296634
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Rips J, Halstuk O, Fuchs A, Lang Z, Sido T, Gershon-Naamat S, Abu-Libdeh B, Edvardson S, Salah S, Breuer O, Hadhud M, Eden S, Simon I, Slae M, Damseh NS, Abu-Libdeh A, Eskin-Schwartz M, Birk OS, Varga J, Schueler-Furman O, Rosenbluh C, Elpeleg O, Yanovsky-Dagan S, Mor-Shaked H, Harel T. Rips J, et al. Among authors: eskin schwartz m. Genet Med. 2024 Apr;26(4):101068. doi: 10.1016/j.gim.2024.101068. Epub 2024 Jan 6. Genet Med. 2024. PMID: 38193396
Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy.
Poleg T, Eskin-Schwartz M, Proskorovski-Ohayon R, Aminov I, Dolgin V, Agam N, Jean M, Safran A, Freund O, Levitas A, Konstantino Y, Birk OS, Westreich R, Haim M. Poleg T, et al. Among authors: eskin schwartz m. 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
Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa.
Bergson S, Daniely D, Bomze D, Mohamad J, Malovitski K, Meijers O, Briskin V, Bihari O, Malchin N, Israeli S, Mashiah J, Falik-Zaccai T, Avitan-Hersh E, Eskin-Schwartz M, Allon-Shalev S, Sarig O, Sprecher E, Samuelov L. Bergson S, et al. Among authors: eskin schwartz m. Pediatr Dermatol. 2023 Nov-Dec;40(6):1021-1027. doi: 10.1111/pde.15440. Epub 2023 Oct 12. Pediatr Dermatol. 2023. PMID: 37827535
38 results