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Page 1
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.
Yogev Y, Shorer Z, Koifman A, Wormser O, Drabkin M, Halperin D, Dolgin V, Proskorovski-Ohayon R, Hadar N, Davidov G, Nudelman H, Zarivach R, Shelef I, Perez Y, Birk OS. Yogev Y, et al. Among authors: proskorovski ohayon r. Proc Natl Acad Sci U S A. 2023 Feb 14;120(7):e2217831120. doi: 10.1073/pnas.2217831120. Epub 2023 Feb 6. Proc Natl Acad Sci U S A. 2023. PMID: 36745799 Free PMC article.
CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice.
Halperin D, Stavsky A, Kadir R, Drabkin M, Wormser O, Yogev Y, Dolgin V, Proskorovski-Ohayon R, Perez Y, Nudelman H, Stoler O, Rotblat B, Lifschytz T, Lotan A, Meiri G, Gitler D, Birk OS. Halperin D, et al. Among authors: proskorovski ohayon r. Nat Commun. 2021 Oct 26;12(1):6187. doi: 10.1038/s41467-021-26426-1. Nat Commun. 2021. PMID: 34702855 Free PMC article.
PSMC1 variant causes a novel neurological syndrome.
Aharoni S, Proskorovski-Ohayon R, Krishnan RK, Yogev Y, Wormser O, Hadar N, Bakhrat A, Alshafee I, Gombosh M, Agam N, Gradstein L, Shorer Z, Zarivach R, Eskin-Schwartz M, Abdu U, Birk OS. Aharoni S, et al. Among authors: proskorovski ohayon r. Clin Genet. 2022 Oct;102(4):324-332. doi: 10.1111/cge.14195. Epub 2022 Aug 3. Clin Genet. 2022. PMID: 35861243 Free PMC article.
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: proskorovski ohayon r. 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
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.
Drabkin M, Jean MM, Noy Y, Halperin D, Yogev Y, Wormser O, Proskorovski-Ohayon R, Dolgin V, Levaot N, Brumfeld V, Ovadia S, Kishner M, Kazenell U, Avraham KB, Shelef I, Birk OS. Drabkin M, et al. Among authors: proskorovski ohayon r. J Med Genet. 2024 Jan 19;61(2):117-124. doi: 10.1136/jmg-2023-109264. J Med Genet. 2024. PMID: 37399313 Free PMC article.
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: proskorovski ohayon r. 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
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: proskorovski ohayon r. 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. J Med Genet. 2024 May 21;61(6):566-577. doi: 10.1136/jmg-2023-109447. J Med Genet. 2024. PMID: 38296634