Publications

Wilson LMQ, Saba S, Li J, Prasov L, Miller JML. Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family. Genes (Basel). 2023;14(4). Epub 20230418. doi: 10.3390/genes14040931. PubMed PMID: 37107689; PMCID: PMC10137565. [PDF]

Parekh B, Beil A, Blevins B, Jacobson A, Williams P, Innis JW, Barone Pritchard A, Prasov L. Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic. Genes (Basel). 2023;14(3). Epub 20230315. doi: 10.3390/genes14030726. PubMed PMID: 36980998; PMCID: PMC10048684. [PDF]

Serpen JY*, Presley W*, Beil A, Armenti ST, Johnson K, Mian SI, Innis JW, Prasov L. A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification. Genes (Basel). 2023;14(5). Epub 20230501. doi: 10.3390/genes14051034. PubMed PMID: 37239394; PMCID: PMC10218699. [PDF] *co-first author.   

Prasov L*, Bohnsack BL, El Husny AS, Tsoi LC, Guan B, Kahlenberg JM, Almeida E, Wang H, Cowen EW, De Jesus AA, Jani P, Billi AC, Moroi SE, Wasikowski R, Almeida I, Almeida LN, Kok F, Garnai SJ, Mian SI, Chen MY, Warner BM, Ferreira CR, Goldbach-Mansky R, Hur S, Brooks BP, Richards JE, Hufnagel RB, Gudjonsson JE. DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation. J Med Genet. 2022;59(3):294-304. Epub 20210125. doi: 10.1136/jmedgenet-2020-107447. PubMed PMID: 33495304; PMCID: PMC8310534. *-corresponding author

Huryn LA, Flaherty T, Nolen R, Prasov L, Zein WM, Cukras CA, Osgood S, Raja N, Levin MD, Vitale S, Brooks BP, Hufnagel RB, Kozel BA. Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome. Br J Ophthalmol. 2022. Epub 20220627. doi: 10.1136/bjophthalmol-2022-321103. PubMed PMID: 35760456; PMCID: PMC10074447.

Kaplan JD, Stewart B, Prasov L, Pyle LC. MYRF-Related Cardiac Urogenital Syndrome. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews((R)). Seattle (WA)1993. 

Balikov DA, Jacobson A, Prasov L. Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders. Genes (Basel). 2021;12(9). Epub 2021/09/29. doi: 10.3390/genes12091403. PubMed PMID: 34573386; PMCID: PMC8471311. Review  [PDF]

Serpen JY, Armenti ST, Prasov L: Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders. J Ophthalmol 2021: 6691291, 01/2021. PM34258050/PMC8257379. Review 

Serpen JY, Prasov L, Zein WM, Cukras CA, Cunningham D, Murphy EC, Turriff A, Brooks BP, Huryn LA. Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort. J Ophthalmol. 2020;2020:5082706. Epub 2020/10/22. doi: 10.1155/2020/5082706. PMID: 33083048; PMCID: PMC7557906. 

Prasov L*, Guan B, Ullah E, Archer SM, Ayres BM, Besirli CG, Wiinikka-Buesser L, Comer G, Del Monte MA, Elner SE, Garnai, SJ, Huryn, LA, Johnson K, Kamat SS, Lieu P, Mian SI, Rygiel C, Serpen JY, Pawar H, Brooks BP, Moroi, SE, Richards JE, and Hufnagel RB* (2020). “The genetic landscape of high hyperopia and nanophthalmos: novel TMEM98, MFRP, PRSS56 variants in a large United States cohort.” Scientific Reports. 2020 Nov 17;10(1):19986. PMID: 33203948. [PDF] *- co-corresponding.

Prasov L, Ullah E, Turriff AE, Warner BM, Conley J, Mark PR, Hufnagel RB, Huryn LA. “Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.” Am J Med Genet A. 2020;182(3):493-7. Epub 2020/02/06. doi: 10.1002/ajmg.a.61484. PMID: 32022389. 

Garnai SJ*, Brinkmeier ML*, Emery B, Aleman TS, Pyle LC, Veleva-Rotse B, Sisk RA, Rozsa FW, Ozel AB, Li JZ, Moroi SE, Archer SM, Lin CM, Sheskey S, Wiinikka-Buesser L, Eadie J, Urquhart JE, Black GCM, Othman MI, Boehnke M, Sullivan SA, Skuta GL, Pawar HS, Katz A, Huryn LA, Hufnagel RB, The Genomic Ascertainment Cohort, Camper SA, Richards JE, Prasov L. “Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice” PLoS Genetics. 2019, 15(5):e1008130. PMID: 31048900. *co-first authors 

Woodward M, Prasov L, Newman-Casey P.A. “Nature versus Nurture: The debate surrounding the pathogenesis of myopia.” JAMA Ophthalmol. 2019. In-press. Editorial.

Prasov L, Armenti ST, Utz VM, Richards JE, Hufnagel RB. “Genetics in Ophthalmology.” J. Ophthalmol. 2018: 4608946 E-collection. PMID: 30245871. PMC6136519. Editorial. 

Carricondo PC, Andrade T, Prasov L, Ayres BM, Moroi SE. “Nanophthalmos: A review of the clinical spectrum and genetics.” J. Ophthalmol. 2018:2735465 E-collection. PMID: 29862063. PMC5971257. Review 

Wang GM, Prasov L, Al-Hasani H, Marrs CER, Tolia S, Wiinikka-Buesser L, Richards JE, Bohnsack BL. “Phenotypic variation in a four-generation family with aniridia carrying a novel PAX6 mutation” J. Ophthalmol. 2018: 5978293 E-collection. PMID: 29850208. PMC5904767. 

Prasov L, Nagy M, Rudolph DD, Glaser T. "Math5 (Atoh7) gene dosage limits retinal ganglion cell genesis." Neuroreport. 2012, 23(10):631-4. [Cover] PMID: 22660169. PMC3733793. 

Prasov L, Masud T, Khaliq S, Mehdi SQ, Abid, AY, Oliver ER, Silva E, Lewanda A, Brodsky MC, Borchert M, Kelberman D, Sowden JC, Dattani MT, Glaser T. “ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.” Hum Molec Genet. 2012, 21(16):3681-94. PMID: 22645276. PMC3406761. 

Prasov L, Glaser T. “Pushing the envelope of retinal ganglion cell genesis: context dependent function of Math5 (Atoh7).” Dev Biol. 2012, 368(2):214-30. PMID: 22609278. PMC3402631. 

Prasov L, Glaser T. “Dynamic expression of ganglion cell markers in retinal progenitors during the terminal cell cycle.” Mol Cell Neurosci. 2012, 50(2):160-8. PMID: 22579728. PMC3383354.

Brzezinski JA 4th, Prasov L, Glaser T. “Math5 establishes an early RGC competence state in a subpopulation of exiting retinal progenitor cells.” Dev Biol. 2012, 365(2):395-413. PMID: 22445509. PMC3337348.

Vigil PD, Wiles TJ, Engstrom MD, Prasov L, Mulvey MA, Mobley HL. "The repeat-in-toxin family member TosA mediates adherence of uropathogenic Escherichia coli and survival during bacteremia." Infect Immun. 2012, 80(2): 493-505. PMID: 22083710. PMC3264304. 

Prasov L, Brown NL, Glaser T. “A critical analysis of Atoh7 (Math5) mRNA splicing in the developing mouse retina.” PLoS One. 2010, 5(8), pii:e12315. PMID: 20808762. PMC2927423. 

Majmudar CY, Lum JK, Prasov L, Mapp AK. “Functional specificity of artificial transcriptional activators.” Chem. Biol. 2005, 12(3), 313-21. PMID:15797215.