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199 results

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Page 1
Hereditary orotic aciduria identified by newborn screening.
Staretz-Chacham O, Damseh NS, Daas S, Abu Salah N, Anikster Y, Barel O, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Hershkovitz E, Josefsberg S, Landau Y, Lerman-Sagie T, Mandel H, Rock R, Rostami N, Saraf-Levy T, Shaul Lotan N, Spiegel R, Tal G, Ulanovsky I, Wilnai Y, Korman SH, Almashanu S. Staretz-Chacham O, et al. Among authors: rock r. Front Genet. 2023 Mar 14;14:1135267. doi: 10.3389/fgene.2023.1135267. eCollection 2023. Front Genet. 2023. PMID: 36999056 Free PMC article.
Vici syndrome in Israel: Clinical and molecular insights.
Chorin O, Hirsch Y, Rock R, Salzer Sheelo L, Goldberg Y, Mandel H, Hershkovitz T, Fleischer N, Greenbaum L, Katz U, Barel O, Hamed N, Ben-Zeev B, Greenberger S, Nasser Samra N, Stern Zimmer M, Raas-Rothschild A, Pode-Shakked B. Chorin O, et al. Among authors: rock r. Front Genet. 2022 Sep 20;13:991721. doi: 10.3389/fgene.2022.991721. eCollection 2022. Front Genet. 2022. PMID: 36204321 Free PMC article.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas S, Abu Salah N, Anikster Y, Barel O, Damseh NS, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Habib C, Josefsberg S, Korman SH, Kneller K, Landau Y, Lerman-Sagie T, Mandel H, Manor Y, Moady Abdalla T, Rock R, Rostami N, Saada A, Saraf-Levy T, Shaul Lotan N, Spiegel R, Staretz-Chacham O, Tal G, Ulanovsky I, Vaisid T, Wilnai Y, Almashanu S. Daas S, et al. Among authors: rock r. J Inherit Metab Dis. 2023 Mar;46(2):232-242. doi: 10.1002/jimd.12580. Epub 2022 Dec 20. J Inherit Metab Dis. 2023. PMID: 36515074
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Kagan M, Semo-Oz R, Ben Moshe Y, Atias-Varon D, Tirosh I, Stern-Zimmer M, Eliyahu A, Raas-Rothschild A, Bivas M, Shlomovitz O, Chorin O, Rock R, Tzadok M, Ben-Zeev B, Heimer G, Bolkier Y, Gruber N, Dagan A, Bar Aluma BE, Pessach IM, Rechavi G, Barel O, Pode-Shakked B, Anikster Y, Vivante A. Kagan M, et al. Among authors: rock r. Front Genet. 2023 Jan 9;13:1018062. doi: 10.3389/fgene.2022.1018062. eCollection 2022. Front Genet. 2023. PMID: 36699461 Free PMC article.
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.
Rock R, Rock O, Daas S, Biton-Regev V, Sagiv N, Salah NA, Anikster Y, Barel O, Cohen RH, Dumin E, Fattal-Valevski A, Falik-Zaccai T, Herskovitz E, Josefsberg S, Khammash H, Kneller K, Korman SH, Landau YE, Lerman-Sagie T, Mandel H, Pras E, Reznik-Wolf H, Shaag A, Lotan NS, Spiegel R, Tal G, Staretz-Chacham O, Wilnai Y, Almashanu S. Rock R, et al. J Inherit Metab Dis. 2025 Jan;48(1):e12800. doi: 10.1002/jimd.12800. Epub 2024 Sep 24. J Inherit Metab Dis. 2025. PMID: 39318119
The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting.
Lempel N, Shelly S, Chorin O, Rock R, Eliyahu A, Finezilber Y, Poran H, Feinstein-Goren N, Segev M, Reznik-Wolf H, Barel O, Orion D, Anis S, Regev M, Yonath H, Dominissini D, Blatt I, Hassin-Baer S, Dori A, Pras E, Greenbaum L. Lempel N, et al. Among authors: rock r. J Neurol Sci. 2024 Aug 15;463:123074. doi: 10.1016/j.jns.2024.123074. Epub 2024 May 31. J Neurol Sci. 2024. PMID: 38968664
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.
Castle AMR, Salian S, Bassan H, Sofrin-Drucker E, Cusmai R, Herman KC, Heron D, Keren B, Johnstone DL, Mears W, Morlot S, Nguyen TTM, Rock R, Stolerman E, Russo J, Burns WB, Jones JR, Serpieri V, Wallaschek H, Zanni G, Dyment DA, Campeau PM. Castle AMR, et al. Among authors: rock r. Neurol Genet. 2021 Oct 21;7(6):e631. doi: 10.1212/NXG.0000000000000631. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34703884 Free PMC article.
199 results