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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. Among authors: andrews c. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304594. doi: 10.1101/2024.03.22.24304594. medRxiv. 2024. Update in: Genet Med. 2024 Jul 17:101216. doi: 10.1016/j.gim.2024.101216 PMID: 38585811 Free PMC article. Updated. Preprint.
HOXA1 mutations are not a common cause of Duane anomaly.
Tischfield MA, Chan WM, Grunert JF, Andrews C, Engle EC. Tischfield MA, et al. Among authors: andrews c. Am J Med Genet A. 2006 Apr 15;140(8):900-2. doi: 10.1002/ajmg.a.31167. Am J Med Genet A. 2006. PMID: 16528738 Free PMC article. Review. No abstract available.
Expansion of the CHN1 strabismus phenotype.
Miyake N, Demer JL, Shaaban S, Andrews C, Chan WM, Christiansen SP, Hunter DG, Engle EC. Miyake N, et al. Among authors: andrews c. Invest Ophthalmol Vis Sci. 2011 Aug 11;52(9):6321-8. doi: 10.1167/iovs.11-7950. Invest Ophthalmol Vis Sci. 2011. PMID: 21715346 Free PMC article.
1,630 results