Jenina Capasso

TitleAdjunct Faculty
InstitutionThomas Jefferson University
DepartmentJefferson College of Life Scie
Address1020 Locust St.
Philadelphia PA 19107
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Paredes DI, Bello NR, Capasso JE, Procopio R, Levin AV. Mutations in AGBL5 associated with Retinitis pigmentosa. Ophthalmic Genet. 2023 Dec 11; 1-6. PMID: 38078364.
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    2. Bello NR, Pisuchpen P, de Guimar?es TAC, Capasso JE, Levin AV. TWO CASES OF CRB1-RELATED RETINAL DYSTROPHY ASSOCIATED WITH RETINAL MASSES. Retin Cases Brief Rep. 2023 Nov 01; 17(6):714-718. PMID: 37903307.
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    3. Cevik S, Wangtiraumnuay N, Van Schelvergem K, Tsukikawa M, Capasso J, Biswas SB, Bodt B, Levin AV, Biswas-Fiss E. Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease. Mol Vis. 2023; 29:217-233. PMID: 38222458.
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    4. Sklar BA, Pisuchpen P, Bareket M, Milman T, Eagle RC, Minor J, Procopio R, Capasso J, Levin AV, Hammersmith K. Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome. Cornea. 2023 Sep 15. PMID: 37713669.
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    5. Paredes DI, Capasso JE, Wyman CS, Levin AV. Genetics of the anterior segment dysgenesis. Taiwan J Ophthalmol. 2023 Oct-Dec; 13(4):500-504. PMID: 38249510.
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    6. 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 May 10. PMID: 37163579.
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    7. Paredes DI, Haefeli LM, Okoye O, Capasso JE, Wyman C, Khetan V, Levin AV. Genetic testing: Getting it right. Oman J Ophthalmol. 2023 Jan-Apr; 16(1):1-3. PMID: 37007263.
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    8. 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 Jan 03. PMID: 36595661.
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    9. van der Ende SR, Meyers BS, Capasso JE, Sasongko M, Yonekawa Y, Pihlblad M, Huey J, Bedoukian EC, Krantz ID, Ngo MH, McMaster CR, Levin AV, Robitaille JM. Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4. JAMA Ophthalmol. 2022 09 01; 140(9):889-893. PMID: 35951321.
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    10. Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV. Axenfeld-Rieger syndrome: more than meets the eye. J Med Genet. 2022 Jul 26. PMID: 35882526.
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    11. Krauss E, Macher J, Capasso J, Bernhardt B, Ali-KhanCatts Z, Levin A, Brandt R. Experiences of genetic testing among individuals with retinitis pigmentosa. Ophthalmic Genet. 2022 10; 43(5):633-640. PMID: 35796432.
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    12. 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. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 03; 24(3):631-644. PMID: 34906488.
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    13. Reis LM, Sorokina EA, Dudakova L, Moravikova J, Skalicka P, Malinka F, Seese SE, Thompson S, Bardakjian T, Capasso J, Allen W, Glaser T, Levin AV, Schneider A, Khan A, Liskova P, Semina EV. Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders. Hum Mol Genet. 2021 08 12; 30(17):1591-1606. PMID: 34046667.
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    14. Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Sa?d S, Condroyer C, Antonio A, K?hlewein 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. CNGB1-related rod-cone dystrophy: A mutation review and update. Hum Mutat. 2021 06; 42(6):641-666. PMID: 33847019.
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    15. 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, Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324. PMID: 33949769.
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    16. Ibanez MB, de Guimar?es TAC, Capasso J, Bello N, Levin AV. Stargardt misdiagnosis: How ocular genetics helps. Am J Med Genet A. 2021 03; 185(3):814-819. PMID: 33369172.
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    17. Thau A, Tsukikawa M, Wangtiraumnuay N, Capasso J, Affel E, Alnabi WA, Adam M, Alsulaiman SM, Spirn M, Levin AV. Optical Coherence Tomography in Knobloch Syndrome. Ophthalmic Surg Lasers Imaging Retina. 2019 08 01; 50(8):e203-e210. PMID: 31415705.
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    18. 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. PMID: 30281527.
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    19. Saffren BD, Capasso JE, Zanolli M, Levin AV. Ocular manifestations of Emanuel syndrome. Am J Med Genet A. 2018 09; 176(9):1964-1967. PMID: 30178914.
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    20. Wangtiraumnuay N, Alnabi WA, Tsukikawa M, Thau A, Capasso J, Sharony R, Inglehearn CF, Levin AV. Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations. Ophthalmic Genet. 2018 06; 39(3):384-390. PMID: 29676688.
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    21. Pefkianaki M, Schneider A, Capasso JE, Wasserman BN, Bardakjian T, Levin AV. Ocular manifestations of PACS1 mutation. J AAPOS. 2018 08; 22(4):323-325. PMID: 29550517.
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    22. Wangtiraumnuay N, Capasso J, Tsukikawa M, Levin A, Biswas-Fiss E. Novel ABCA4 mutation leads to loss of a conserved C-terminal motif: implications for predicting pathogenicity based on genetic testing. Eur J Ophthalmol. 2018 Jan; 28(1):123-126. PMID: 28885670.
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    23. Petersen-Jones SM, Occelli LM, Winkler PA, Lee W, Sparrow JR, Tsukikawa M, Boye SL, Chiodo V, Capasso JE, Becirovic E, Sch?n C, Seeliger MW, Levin AV, Michalakis S, Hauswirth WW, Tsang SH. Patients and animal models of CNG?1-deficient retinitis pigmentosa support gene augmentation approach. J Clin Invest. 2018 01 02; 128(1):190-206. PMID: 29202463.
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    24. Wuthisiri W, Lai YH, Capasso J, Blidner M, Salz D, Kruger E, Levin AV. Autoimmune retinopathy associated with systemic lupus erythematosus: A diagnostic dilemma. Taiwan J Ophthalmol. 2017 Jul-Sep; 7(3):172-176. PMID: 29034159.
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    25. 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. Spectrum of PEX1 and PEX6 variants in Heimler syndrome. Eur J Hum Genet. 2016 11; 24(11):1565-1571. PMID: 27302843.
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    26. Khetan V, Zanolli M, Capasso J, Refice NZ, Neeley K, Levin AV. How genetics works? An illustrative case report. Indian J Ophthalmol. 2016 May; 64(5):399-402. PMID: 27380984.
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    27. Lingao MD, Ganesh A, Karthikeyan AS, Al Zuhaibi S, Al-Hosni A, Al Khayat A, Capasso J, Trumler AA, Stroh E, Al Shekaili H, Cater JR, Levin AV. Macular cystoid spaces in patients with retinal dystrophy. Ophthalmic Genet. 2016 12; 37(4):377-383. PMID: 26894784.
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    28. Lai YH, Capasso JE, Kaiser R, Levin AV. Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene. Ophthalmic Genet. 2016 12; 37(4):424-426. PMID: 26894652.
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    29. Pham H, Lingao MD, Ganesh A, Capasso JE, Keep R, Sadagopan KA, Levin AV. Organophosphate retinopathy. Oman J Ophthalmol. 2016 Jan-Apr; 9(1):49-51. PMID: 27013829.
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    30. Hope WC, Cordovez JA, Capasso JE, Hammersmith KM, Eagle RC, Lall-Trail J, Levin AV. Peters anomaly in cri-du-chat syndrome. J AAPOS. 2015 Jun; 19(3):277-9. PMID: 26059676.
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    31. Zhang L, Lai YH, Capasso JE, Han S, Levin AV. Early onset ectopia lentis due to a FBN1 mutation with non-penetrance. Am J Med Genet A. 2015 Jun; 167(6):1365-8. PMID: 25900864.
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    32. Sadagopan KA, Liu GT, Capasso JE, Wuthisiri W, Keep RB, Levin AV. Anirdia-like phenotype caused by 6p25 dosage aberrations. Am J Med Genet A. 2015 Mar; 167A(3):524-8. PMID: 25691405.
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    33. Cordovez JA, Traboulsi EI, Capasso JE, Sadagopan KA, Ganesh A, Rychwalski PJ, Neely KA, Brodie SE, Levin AV. Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene. Ophthalmic Genet. 2015; 36(3):257-64. PMID: 24512366.
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    34. Zanolli MT, Capasso J, Khetan V, Aristimu?o B, Levin AV. Unusual retinal abnormalities in sisters with tetralogy of Fallot. J AAPOS. 2014 Dec; 18(6):601-4. PMID: 25448148.
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    35. Capasso JE. The cost of genetic testing for ocular disease: who pays? Curr Opin Ophthalmol. 2014 Sep; 25(5):394-9. PMID: 25010001.
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    36. Arcot Sadagopan K, Battista R, Keep RB, Capasso JE, Levin AV. Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son. Ophthalmic Genet. 2015 Jun; 36(2):156-9. PMID: 24093488.
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    37. Wuthisiri W, Lingao MD, Capasso JE, Levin AV. Lyonization in ophthalmology. Curr Opin Ophthalmol. 2013 Sep; 24(5):389-97. PMID: 23892913.
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    38. Cordovez JA, Capasso J, Lingao MD, Sadagopan KA, Spaeth GL, Wasserman BN, Levin AV. Ocular manifestations of 22q11.2 microduplication. Ophthalmology. 2014 Jan; 121(1):392-398. PMID: 23972321.
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    39. Sadagopan KA, Capasso J, Levin AV. Genetics for the ophthalmologist. Oman J Ophthalmol. 2012 Sep; 5(3):144-9. PMID: 23439654.
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