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21 results

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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. Among authors: dolgin v. J Med Genet. 2024 Dec 31;62(1):15-24. doi: 10.1136/jmg-2024-109862. 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: dolgin v. Hum Genet. 2024 May;143(5):695-701. doi: 10.1007/s00439-024-02671-4. Epub 2024 Apr 12. Hum Genet. 2024. PMID: 38607411
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
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.
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.
21 results