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DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium; Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E. Vig A, et al. Among authors: di scipio m. Genet Med. 2020 Dec;22(12):2041-2051. doi: 10.1038/s41436-020-0915-1. Epub 2020 Aug 5. Genet Med. 2020. PMID: 32753734 Free PMC article.
Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization.
Di Scipio M, Tavares E, Deshmukh S, Audo I, Green-Sanderson K, Zubak Y, Zine-Eddine F, Pearson A, Vig A, Tang CY, Mollica A, Karas J, Tumber A, Yu CW, Billingsley G, Wilson MD, Zeitz C, Héon E, Vincent A. Di Scipio M, et al. Invest Ophthalmol Vis Sci. 2020 Aug 3;61(10):36. doi: 10.1167/iovs.61.10.36. Invest Ophthalmol Vis Sci. 2020. PMID: 32881472 Free PMC article.
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Dvaladze A, Tavares E, Di Scipio M, Nimmo G, Grudzinska-Pechhacker MK, Paton T, Tumber A, Li S, Eileen C, Ertl-Wagner B, Mamak E, Hoffmann G, Marshall CR, Haas D, Mayatepek E, Schulze A, Heon E, Vincent A. Dvaladze A, et al. Among authors: di scipio m. Clin Genet. 2022 Dec;102(6):524-529. doi: 10.1111/cge.14207. Epub 2022 Aug 14. Clin Genet. 2022. PMID: 35916082
Autosomal dominant macular dystrophy linked to a chromosome 17 tandem duplication.
Adele R, Hussein R, Tavares E, Ahmed K, Di Scipio M, Charish J, Liang M, Monis S, Tumber A, Chen X, Paton TA, Roslin NM, Eileen C, Ivakine E, Sunny NE, Wilson MD, Campos E, Rajala RV, Maynes JT, Monnier PP, Paterson AD, Héon E, Vincent A. Adele R, et al. Among authors: di scipio m. JCI Insight. 2024 Oct 22:e178768. doi: 10.1172/jci.insight.178768. Online ahead of print. JCI Insight. 2024. PMID: 39436697 Free article.
Genetic Determinants of Vascular Dementia.
Pathan N, Kharod MK, Nawab S, Di Scipio M, Paré G, Chong M. Pathan N, et al. Among authors: di scipio m. Can J Cardiol. 2024 Aug;40(8):1412-1423. doi: 10.1016/j.cjca.2024.03.025. Epub 2024 Apr 3. Can J Cardiol. 2024. PMID: 38579965 Free article. Review.
15 results