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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: macdonald im. Genet Med. 2020 Jul;22(7):1235-1246. doi: 10.1038/s41436-020-0787-4. Epub 2020 Apr 20. Genet Med. 2020. PMID: 32307445 Free article.
Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia.
Hariri AH, Velaga SB, Girach A, Ip MS, Le PV, Lam BL, Fischer MD, Sankila EM, Pennesi ME, Holz FG, MacLaren RE, Birch DG, Hoyng CB, MacDonald IM, Black GC, Tsang SH, Bressler NM, Larsen M, Gorin MB, Webster AR, Sadda SR; Natural History of the Progression of Choroideremia (NIGHT) Study Group. Hariri AH, et al. Among authors: macdonald im. Am J Ophthalmol. 2017 Jul;179:110-117. doi: 10.1016/j.ajo.2017.05.002. Epub 2017 May 10. Am J Ophthalmol. 2017. PMID: 28499705
Macular spatial distribution of preserved autofluorescence in patients with choroideremia.
Hariri AH, Ip MS, Girach A, Lam BL, Fischer MD, Sankila EM, Pennesi ME, Holz FG, Maclaren RE, Birch DG, Hoyng CB, MacDonald IM, Black GC, Tsang SH, Bressler NM, Stepien KE, Larsen M, Gorin MB, Meunier I, Webster AR, Sadda S; For Natural History of the Progression of Choroideremia (NIGHT) Study Group. Hariri AH, et al. Among authors: macdonald im. Br J Ophthalmol. 2019 Jul;103(7):933-937. doi: 10.1136/bjophthalmol-2018-312620. Epub 2018 Oct 8. Br J Ophthalmol. 2019. PMID: 30297337 Free PMC article.
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH, Khan M, Cornelis SS, Roosing S, Del Pozo-Valero M, Lamey TM, Liskova P, Roberts L, Stöhr H, Klaver CCW, Hoyng CB, Cremers FPM, Dhaenens CM; Disease Consortium Study Group. Runhart EH, et al. JAMA Ophthalmol. 2020 Oct 1;138(10):1035-1042. doi: 10.1001/jamaophthalmol.2020.2990. JAMA Ophthalmol. 2020. PMID: 32815999 Free PMC article.
Clinical diagnoses that overlap with choroideremia.
Lee TK, McTaggart KE, Sieving PA, Heckenlively JR, Levin AV, Greenberg J, Weleber RG, Tong PY, Anhalt EF, Powell BR, MacDonald IM. Lee TK, et al. Among authors: macdonald im. Can J Ophthalmol. 2003 Aug;38(5):364-72; quiz 372. doi: 10.1016/s0008-4182(03)80047-9. Can J Ophthalmol. 2003. PMID: 12956277
Advances in the genetics of eye diseases.
Chan S, Freund PR, MacDonald I. Chan S, et al. Curr Opin Pediatr. 2013 Dec;25(6):645-52. doi: 10.1097/MOP.0000000000000026. Curr Opin Pediatr. 2013. PMID: 24126856 Review.
194 results