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DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.
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. Prasov L, et al. Among authors: richards je. J Med Genet. 2022 Mar;59(3):294-304. doi: 10.1136/jmedgenet-2020-107447. Epub 2021 Jan 25. J Med Genet. 2022. PMID: 33495304 Free PMC article.
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
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 AE, Huryn LA, Hufnagel RB; Genomic Ascertainment Cohort; Camper SA, Richards JE, Prasov L. Garnai SJ, et al. Among authors: richards je. PLoS Genet. 2019 May 2;15(5):e1008130. doi: 10.1371/journal.pgen.1008130. eCollection 2019 May. PLoS Genet. 2019. PMID: 31048900 Free PMC article.
Genome-wide association study and meta-analysis of intraocular pressure.
Ozel AB, Moroi SE, Reed DM, Nika M, Schmidt CM, Akbari S, Scott K, Rozsa F, Pawar H, Musch DC, Lichter PR, Gaasterland D, Branham K, Gilbert J, Garnai SJ, Chen W, Othman M, Heckenlively J, Swaroop A, Abecasis G, Friedman DS, Zack D, Ashley-Koch A, Ulmer M, Kang JH; NEIGHBOR Consortium; Liu Y, Yaspan BL, Haines J, Allingham RR, Hauser MA, Pasquale L, Wiggs J, Richards JE, Li JZ. Ozel AB, et al. Among authors: richards je. Hum Genet. 2014 Jan;133(1):41-57. doi: 10.1007/s00439-013-1349-5. Epub 2013 Sep 4. Hum Genet. 2014. PMID: 24002674 Free PMC article.
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Prasov L, Guan B, Ullah E, Archer SM, Ayres BM, Besirli CG, Wiinikka-Buesser L, Comer GM, Del Monte MA, Elner SG, Garnai SJ, Huryn LA, Johnson K, Kamat SS, Lieu P, Mian SI, Rygiel CA, Serpen JY, Pawar HS, Brooks BP, Moroi SE, Richards JE, Hufnagel RB. Prasov L, et al. Among authors: richards je. Sci Rep. 2020 Nov 17;10(1):19986. doi: 10.1038/s41598-020-76725-8. Sci Rep. 2020. PMID: 33203948 Free PMC article.
Genetics in Ophthalmology.
Prasov L, Armenti ST, Utz VM, Richards JE, Hufnagel RB. Prasov L, et al. Among authors: richards je. J Ophthalmol. 2018 Aug 29;2018:4608946. doi: 10.1155/2018/4608946. eCollection 2018. J Ophthalmol. 2018. PMID: 30245871 Free PMC article. No abstract available.
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.
Krafchak CM, Pawar H, Moroi SE, Sugar A, Lichter PR, Mackey DA, Mian S, Nairus T, Elner V, Schteingart MT, Downs CA, Kijek TG, Johnson JM, Trager EH, Rozsa FW, Mandal MN, Epstein MP, Vollrath D, Ayyagari R, Boehnke M, Richards JE. Krafchak CM, et al. Among authors: richards je. Am J Hum Genet. 2005 Nov;77(5):694-708. doi: 10.1086/497348. Epub 2005 Sep 14. Am J Hum Genet. 2005. PMID: 16252232 Free PMC article.
378 results