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Year Number of Results
2017 3
2018 5
2019 7
2020 6
2021 3
2022 3
2023 2
2024 3

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28 results

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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: wormser o. 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.
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: wormser o. 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.
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: wormser o. 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.
SEC31A mutation affects ER homeostasis, causing a neurological syndrome.
Halperin D, Kadir R, Perez Y, Drabkin M, Yogev Y, Wormser O, Berman EM, Eremenko E, Rotblat B, Shorer Z, Gradstein L, Shelef I, Birk R, Abdu U, Flusser H, Birk OS. Halperin D, et al. Among authors: wormser o. J Med Genet. 2019 Mar;56(3):139-148. doi: 10.1136/jmedgenet-2018-105503. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464055
Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.
Drabkin M, Yogev Y, Zeller L, Zarivach R, Zalk R, Halperin D, Wormser O, Gurevich E, Landau D, Kadir R, Perez Y, Birk OS. Drabkin M, et al. Among authors: wormser o. J Clin Invest. 2019 Dec 2;129(12):5163-5168. doi: 10.1172/JCI129057. J Clin Invest. 2019. PMID: 31638601 Free PMC article.
Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
Halperin D, Drabkin M, Wormser O, Yogev Y, Dolgin V, Shorer Z, Gradstein L, Shelef I, Flusser H, Birk OS. Halperin D, et al. Among authors: wormser o. Am J Med Genet A. 2020 Jun;182(6):1506-1512. doi: 10.1002/ajmg.a.61577. Epub 2020 Mar 31. Am J Med Genet A. 2020. PMID: 32232962
28 results