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The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency.

Staretz-Chacham O, Pode-Shakked B, Kristal E, Abraham SY, Porper K, Wormser O, Shelef I, Anikster Y. Staretz-Chacham O, et al. Among authors: wormser o. Nutrients. 2021 Oct 7;13(10):3523. doi: 10.3390/nu13103523. Nutrients. 2021. PMID: 34684524 Free PMC article.

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Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.

Staretz-Chacham O, Amar S, Almashanu S, Pode-Shakked B, Saada A, Wormser O, Hershkovitz E. Staretz-Chacham O, et al. Among authors: wormser o. Genes (Basel). 2021 Jul 28;12(8):1140. doi: 10.3390/genes12081140. Genes (Basel). 2021. PMID: 34440319 Free PMC article.

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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

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Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis.

Wormser O, Levy Y, Bakhrat A, Bonaccorsi S, Graziadio L, Gatti M, AbuMadighem A, McKenney RJ, Okada K, El Riati S, Har-Vardi I, Huleihel M, Levitas E, Birk OS, Abdu U. Wormser O, et al. J Med Genet. 2021 Apr;58(4):254-263. doi: 10.1136/jmedgenet-2020-106946. Epub 2020 Jun 11. J Med Genet. 2021. PMID: 32527956

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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

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B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.

Staretz-Chacham O, Noyman I, Wormser O, Abu Quider A, Hazan G, Morag I, Hadar N, Raymond K, Birk OS, Ferreira CR, Koifman A. Staretz-Chacham O, et al. Among authors: wormser o. Clin Genet. 2020 Jun;97(6):920-926. doi: 10.1111/cge.13735. Epub 2020 Mar 16. Clin Genet. 2020. PMID: 32157688

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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.

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TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.

Staretz-Chacham O, Wormser O, Manor E, Birk OS, Ferreira CR. Staretz-Chacham O, et al. Among authors: wormser o. Am J Med Genet A. 2019 Jul;179(7):1293-1298. doi: 10.1002/ajmg.a.61138. Epub 2019 Apr 4. Am J Med Genet A. 2019. PMID: 30950220

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Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.

Halperin D, Sapir A, Wormser O, Drabkin M, Yogev Y, Dolgin V, Flusser H, Birk OS. Halperin D, et al. Among authors: wormser o. Neurogenetics. 2020 Oct;21(4):301-304. doi: 10.1007/s10048-020-00617-2. Epub 2020 Jun 3. Neurogenetics. 2020. PMID: 32488727

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Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.

Yogev Y, Perez Y, Noyman I, Madegem AA, Flusser H, Shorer Z, Cohen E, Kachko L, Michaelovsky A, Birk R, Koifman A, Drabkin M, Wormser O, Halperin D, Kadir R, Birk OS. Yogev Y, et al. Among authors: wormser o. Eur J Hum Genet. 2017 Aug;25(8):966-972. doi: 10.1038/ejhg.2017.85. Epub 2017 May 10. Eur J Hum Genet. 2017. PMID: 28488683 Free PMC article.

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