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Page 1
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Jurgens JA, et al. Genet Med. 2024 Jul 17:101216. doi: 10.1016/j.gim.2024.101216. Online ahead of print. Genet Med. 2024. PMID: 39033378 Free article.
Familial unilateral Brown syndrome.
Iannaccone A, McIntosh N, Ciccarelli ML, Baldi A, Mutolo PA, Tedesco SA, Engle EC. Iannaccone A, et al. Among authors: ciccarelli ml. Ophthalmic Genet. 2002 Sep;23(3):175-84. doi: 10.1076/opge.23.3.175.7882. Ophthalmic Genet. 2002. PMID: 12324876
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
Burke TR, Fishman GA, Zernant J, Schubert C, Tsang SH, Smith RT, Ayyagari R, Koenekoop RK, Umfress A, Ciccarelli ML, Baldi A, Iannaccone A, Cremers FP, Klaver CC, Allikmets R. Burke TR, et al. Among authors: ciccarelli ml. Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4458-67. doi: 10.1167/iovs.11-9166. Invest Ophthalmol Vis Sci. 2012. PMID: 22661473 Free PMC article.
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Miyake N, et al. Among authors: ciccarelli ml. Science. 2008 Aug 8;321(5890):839-43. doi: 10.1126/science.1156121. Epub 2008 Jul 24. Science. 2008. PMID: 18653847 Free PMC article.
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A. Branham K, et al. Among authors: ciccarelli ml. Invest Ophthalmol Vis Sci. 2012 Dec 13;53(13):8232-7. doi: 10.1167/iovs.12-11025. Invest Ophthalmol Vis Sci. 2012. PMID: 23150612 Free PMC article.
Kinetics of visual field loss in Usher syndrome Type II.
Iannaccone A, Kritchevsky SB, Ciccarelli ML, Tedesco SA, Macaluso C, Kimberling WJ, Somes GW. Iannaccone A, et al. Among authors: ciccarelli ml. Invest Ophthalmol Vis Sci. 2004 Mar;45(3):784-92. doi: 10.1167/iovs.03-0906. Invest Ophthalmol Vis Sci. 2004. PMID: 14985291