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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: dolgin v. 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
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: dolgin v. 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.
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.
Wormser O, Perez Y, Dolgin V, Kamali B, Tangeman JA, Gradstein L, Yogev Y, Hadar N, Freund O, Drabkin M, Halperin D, Irron I, Grajales-Esquivel E, Del Rio-Tsonis K, Birnbaum RY, Akler G, Birk OS. Wormser O, et al. Among authors: dolgin v. NPJ Genom Med. 2023 Aug 14;8(1):22. doi: 10.1038/s41525-023-00364-x. NPJ Genom Med. 2023. PMID: 37580330 Free PMC article.
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: dolgin v. 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.
DEGS1 variant causes neurological disorder.
Dolgin V, Straussberg R, Xu R, Mileva I, Yogev Y, Khoury R, Konen O, Barhum Y, Zvulunov A, Mao C, Birk OS. Dolgin V, et al. Eur J Hum Genet. 2019 Nov;27(11):1668-1676. doi: 10.1038/s41431-019-0444-z. Epub 2019 Jun 11. Eur J Hum Genet. 2019. PMID: 31186544 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: dolgin v. Nat Commun. 2021 Oct 26;12(1):6187. doi: 10.1038/s41467-021-26426-1. Nat Commun. 2021. PMID: 34702855 Free PMC article.
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