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A case of blepharophimosis: Freeman Sheldon syndrome.
Ophthalmic Genet. 2022 Feb;43(1):130-133. doi: 10.1080/13816810.2021.1989603. Epub 2021 Oct 19.
Ophthalmic Genet. 2022.
PMID: 34664542
Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.
Chan KS, Bohnsack BL, Ing A, Drackley A, Castelluccio V, Zhang KX, Ralay-Ranaivo H, Rossen JL.
Chan KS, et al. Among authors: castelluccio v.
Genes (Basel). 2023 Jan 3;14(1):135. doi: 10.3390/genes14010135.
Genes (Basel). 2023.
PMID: 36672876
Free PMC article.
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Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts.
Rossen JL, Bohnsack BL, Zhang KX, Ing A, Drackley A, Castelluccio V, Ralay-Ranaivo H.
Rossen JL, et al. Among authors: castelluccio v.
Genes (Basel). 2023 Feb 28;14(3):608. doi: 10.3390/genes14030608.
Genes (Basel). 2023.
PMID: 36980880
Free PMC article.
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Expanding the spectrum of CEP55-associated disease to viable phenotypes.
Barrie ES, Overwater E, van Haelst MM, Motazacker MM, Truxal KV, Crist E, Mostafavi R, Pivnick EK, Choudhri AF, Narumanchi T, Castelluccio V, Walsh LE, Garganta C, Gastier-Foster JM.
Barrie ES, et al. Among authors: castelluccio v.
Am J Med Genet A. 2020 May;182(5):1201-1208. doi: 10.1002/ajmg.a.61512. Epub 2020 Feb 25.
Am J Med Genet A. 2020.
PMID: 32100459
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An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
Castelluccio VJ, Vetrini F, Lynnes T, Jones J, Holloway L, Belonis A, Breman AM, Graham BH, Sapp K, Wilson T, Schwartz CE, Pratt VM, Weaver DD.
Castelluccio VJ, et al.
Am J Med Genet A. 2019 Dec;179(12):2357-2364. doi: 10.1002/ajmg.a.61353. Epub 2019 Sep 12.
Am J Med Genet A. 2019.
PMID: 31512387
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