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Page 1
Optic Nerve Aplasia.
Saffren BD, Yassin SH, Geddie BE, de Faber JTHN, Blieden LS, Bhate M, Gamio S, Rutar T, Levin AV. Saffren BD, et al. Among authors: levin av. J Neuroophthalmol. 2022 Mar 1;42(1):e140-e146. doi: 10.1097/WNO.0000000000001246. Epub 2021 Apr 14. J Neuroophthalmol. 2022. PMID: 33870948
Ocular manifestations of Emanuel syndrome.
Saffren BD, Capasso JE, Zanolli M, Levin AV. Saffren BD, et al. Among authors: levin av. Am J Med Genet A. 2018 Sep;176(9):1964-1967. doi: 10.1002/ajmg.a.40361. Epub 2018 Sep 4. Am J Med Genet A. 2018. PMID: 30178914
Falsely high rebound tonometry.
Saffren B, Price JM, Zhang QE, Hamershock RA, Sharpe J, Levin AV. Saffren B, et al. Among authors: levin av. J AAPOS. 2021 Apr;25(2):97.e1-97.e5. doi: 10.1016/j.jaapos.2020.11.017. Epub 2021 Apr 24. J AAPOS. 2021. PMID: 33901671
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS; Undiagnosed Diseases Network; Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. Keehan L, et al. Among authors: levin av. Am J Med Genet A. 2021 Aug;185(8):2315-2324. doi: 10.1002/ajmg.a.62232. Epub 2021 May 5. Am J Med Genet A. 2021. PMID: 33949769 Free PMC article.
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. Nassisi M, et al. Hum Mutat. 2021 Jun;42(6):641-666. doi: 10.1002/humu.24205. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33847019 Free PMC article. Review.
Ocular manifestations of 22q11.2 microduplication.
Cordovez JA, Capasso J, Lingao MD, Sadagopan KA, Spaeth GL, Wasserman BN, Levin AV. Cordovez JA, et al. Among authors: levin av. Ophthalmology. 2014 Jan;121(1):392-398. doi: 10.1016/j.ophtha.2013.06.040. Epub 2013 Aug 21. Ophthalmology. 2014. PMID: 23972321
316 results