Below are the most recent publications written about "Microphthalmos" by people in Profiles.
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Okoye O, Capasso J, Kopinsky SM, Amlie-Wolf L, Levin AV, Schneider A. SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum. Am J Med Genet A. 2023 08; 191(8):2198-2203.
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Albakri A, Pisuchpen P, Capasso JE, Schneider A, Kopinsky S, Glaser T, Chiang JP, Yomai AA, McNear D, Levin AV. Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis. Am J Med Genet A. 2023 04; 191(4):1007-1012.
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Reis LM, Chassaing N, Bardakjian T, Thompson S, Schneider A, Semina EV. ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes. Eur J Hum Genet. 2023 03; 31(3):363-367.
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Amlie-Wolf L, Bardakjian T, Kopinsky SM, Reis LM, Semina EV, Schneider A. Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study. Am J Med Genet A. 2022 01; 188(1):187-198.
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Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM, Semina EV. Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. Clin Genet. 2021 03; 99(3):437-442.
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Zazo-Seco C, Plaisanci? J, Bitoun P, Corton M, Arteche A, Ayuso C, Schneider A, Zafeiropoulou D, Gilissen C, Roche O, Fr?mont F, Calvas P, Slavotinek A, Ragge N, Chassaing N. Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis. J Hum Genet. 2020 May; 65(5):487-491.
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Wangtiraumnuay N, Kopinsky S, Iyer P, Capasso J, Whitehead R, Schneider A, Levin AV. Ophthalmic manifestations associated with RARB mutations. Clin Dysmorphol. 2019 Jan; 28(1):46-49.
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Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, T?pf A, Straub V, Kapetanovic Garc?a S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM. FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. Neurology. 2018 08 07; 91(6):e562-e570.
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Logan CM, Bowen CJ, Menko AS. Induction of Immune Surveillance of the Dysmorphogenic Lens. Sci Rep. 2017 11 24; 7(1):16235.
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Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, Garc?a-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, M?hlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM, Lin AE, Katsanis N, Jones PL, Crowley WF, Davis EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248.