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Page 1
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL. Fasham J, et al. Among authors: capasso j. Genet Med. 2022 Mar;24(3):631-644. doi: 10.1016/j.gim.2021.10.014. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906488 Free PMC article.
Genetics for the ophthalmologist.
Sadagopan KA, Capasso J, Levin AV. Sadagopan KA, et al. Among authors: capasso j. Oman J Ophthalmol. 2012 Sep;5(3):144-9. doi: 10.4103/0974-620X.106092. Oman J Ophthalmol. 2012. PMID: 23439654 Free PMC article.
Lyonization in ophthalmology.
Wuthisiri W, Lingao MD, Capasso JE, Levin AV. Wuthisiri W, et al. Curr Opin Ophthalmol. 2013 Sep;24(5):389-97. doi: 10.1097/ICU.0b013e3283641f91. Curr Opin Ophthalmol. 2013. PMID: 23892913 Review.
Anirdia-like phenotype caused by 6p25 dosage aberrations.
Sadagopan KA, Liu GT, Capasso JE, Wuthisiri W, Keep RB, Levin AV. Sadagopan KA, et al. Am J Med Genet A. 2015 Mar;167A(3):524-8. doi: 10.1002/ajmg.a.36890. Am J Med Genet A. 2015. PMID: 25691405
Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
Smith CE, Poulter JA, Levin AV, Capasso JE, Price S, Ben-Yosef T, Sharony R, Newman WG, Shore RC, Brookes SJ, Mighell AJ, Inglehearn CF. Smith CE, et al. Among authors: capasso je. Eur J Hum Genet. 2016 Nov;24(11):1565-1571. doi: 10.1038/ejhg.2016.62. Epub 2016 Jun 15. Eur J Hum Genet. 2016. PMID: 27302843 Free PMC article.
180 results