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Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E, Kinde B, Place EM, Navarro-Gomez D, Maher M, Jamshidi F, Nassiri S, Mazzone JA, Finn C, Schlegel D, Comander J, Pierce EA, Bujakowska KM. Zampaglione E, et al. Among authors: schlegel d. Genet Med. 2020 Jun;22(6):1079-1087. doi: 10.1038/s41436-020-0759-8. Epub 2020 Feb 10. Genet Med. 2020. PMID: 32037395 Free PMC article.
Peripheral Pigmented Retinal Lesions in Stargardt Disease.
Zhao PY, Abalem MF, Nadelman D, Qian CX, Branham K, Schlegel D, Khan N, Heckenlively JR, Jayasundera T. Zhao PY, et al. Among authors: schlegel d. Am J Ophthalmol. 2018 Apr;188:104-110. doi: 10.1016/j.ajo.2017.12.011. Epub 2017 Dec 27. Am J Ophthalmol. 2018. PMID: 29288030 Free PMC article.
Double hyperautofluorescent ring on fundus autofluorescence in ABCA4.
Abalem MF, Qian CX, Branham K, Schlegel D, Fahim AT, Khan NW, Heckenlively JR, Jayasundera KT. Abalem MF, et al. Among authors: schlegel d. Ophthalmic Genet. 2018 Jan-Feb;39(1):87-91. doi: 10.1080/13816810.2017.1335330. Epub 2017 Jul 20. Ophthalmic Genet. 2018. PMID: 28726568 Free PMC article.
Macular hyperpigmentary changes in ABCA4-Stargardt disease.
Abalem MF, Omari AA, Schlegel D, Khan NW, Jayasundera T. Abalem MF, et al. Among authors: schlegel d. Int J Retina Vitreous. 2019 Apr 1;5:9. doi: 10.1186/s40942-019-0160-4. eCollection 2019. Int J Retina Vitreous. 2019. PMID: 30984415 Free PMC article.
195 results