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Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Grudzinska Pechhacker MK, Jacobson SG, Drack AV, Scipio MD, Strubbe I, Pfeifer W, Duncan JL, Dollfus H, Goetz N, Muller J, Vincent AL, Aleman TS, Tumber A, Van Cauwenbergh C, De Baere E, Bedoukian E, Leroy BP, Maynes JT, Munier FL, Tavares E, Saleh E, Vincent A, Heon E. Grudzinska Pechhacker MK, et al. Invest Ophthalmol Vis Sci. 2021 Dec 1;62(15):26. doi: 10.1167/iovs.62.15.26. Invest Ophthalmol Vis Sci. 2021. PMID: 34940782 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: grudzinska pechhacker mk. Clin Genet. 2022 Dec;102(6):524-529. doi: 10.1111/cge.14207. Epub 2022 Aug 14. Clin Genet. 2022. PMID: 35916082