Julia E. Richards, Ph.D.
Publications

Guevara-Fujita ML, Perez-Grossmann RA, Estrada-Cuzcano A, Pawar H, Vargas E, Richards JE, Fujita R. Recurrent myocilin Asn480Lys glaucoma causative mutation arises de novo in a family of Andean descent. J Glaucoma 2008;17:67-72.

Rozsa FW, Scott K, Pawar H, Moroi S, Richards JE. Effects of Timolol on MYOC, OPTN, and WDR36 RNA Levels. Arch Ophthalmol 2008;126:86-93.

Aldave AJ, Yellore VS, Yu F, Bourla N, Sonmez B, Salem AK, Rayner SA, Sampat KM, Krafchak CM, Richards JE. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am J Med Genet A 2007 [Epub ahead of print].

Trager EH, Khanna R, Marrs A, Siden L, Branham KE, Swaroop A, Richards JE. Madeline 2.0 PDE: A new program for local and web-based pedigree drawing. Bioinformatics 2007;23:1854-1856. Epub 2007 May 8.

Hewitt AW, Samples JR, Allingham RR, Jarvela I, Kitsos G, Krishnadas SR, Richards JE, Lichter PR, Petersen MB, Sundaresan P, Wiggs JL, Mackey DA, Wirtz MK. Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds. Mol Vis 2007;13:487-492.

Downs K, Zacks DN, Caruso R, Karoukis AJ, Branham K, Yashar BM, Haimann MH, Trzupek K, Meltzer M, Blain D, Richards JE, Weleber RG, Heckenlively JR, Sieving PA, Ayyagari R. Molecular testing for hereditary retinal disease as part of clinical care. Arch Ophthalmol 2007;125:252-258.

Ayala-Lugo RM, Pawar H, Reed DM, Lichter PR, Moroi SE, Page M, Eadie J, Azocar V, Maul E, Ntim-Amponsah C, Bromley W, Obeng-Nyarkoh E, Johnson AT, Kijek TG, Downs CA, Johnson JM, Perez-Grossmann RA, Guevara-Fujita ML, Fujita R, Wallace MR, Richards JE. Variation in optineurin (OPTN) allele frequencies between and within populations. Mol Vis 2007;13:151-163.

Rozsa FW, Scott KM, Pawar H, Samples JR, Wirtz MK, Richards JE. Differential expression profile prioritization of positional candidate glaucoma genes: the GLC1C locus. Arch Ophthalmol 2007;125:117-127.

McLaren N, Reed DM, Musch DC, Downs CA, Higashi ME, Santiago C, Radenbaugh PA, Allingham RR, Richards JE, Moroi SE. Evaluation of the beta2-adrenergic receptor gene as a candidate glaucoma gene in 2 ancestral populations. Arch Ophthalmol 2007;125:105-111.

Hewitt AW, Bennett SL, Richards JE, Dimasi DP, Booth AP, Inglehearn C, Yamamoto T, Fingert JH, Heon E, Craig JE, Mackey DA. Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals. Arch Ophthalmol 2007;125:98-104.

Mimiwati Z, Mackey DA, Craig JE, Mackinnon JR, Rait JL, Liebelt JE, Ayala-Lugo R, Vollrath D, Richards JE. Nail-patella syndrome and its association with glaucoma: a review of eight families. Br J Ophthalmol 2006;90:1505-1509.

Radenbaugh PA, Goyal A, McLaren NC, Reed DM, Musch DC, Richards JE, Moroi SE. Concordance of aqueous humor flow in the morning and at night in normal humans. Invest Ophthalmol Vis Sci 2006;47:4860-4864.

Woodroffe A, Krafchak CM, Fuse N, et al. Ordered subset analysis supports a glaucoma locus at GLC1I on chromosome 15 in families with earlier adult age at diagnosis. Exp Eye Res 2006;82:1068-1074.

Rozsa FW, Reed DM, Scott KM, et al. Gene expression profile of human trabecular meshwork cells in response to long-term dexamethasone exposure. Mol Vis 2006;12:125-141.

Bucher RS, Hall E, Reed DM, et al. Effect of intravitreal triamcinolone acetonide on susceptibility to experimental bacterial endophthalmitis and subsequent response to treatment. Arch Ophthalmol 2005;123:649-653.

Krafchak CM, Pawar H, Moroi SE, et al. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet 2005;77:694-708.

Brooks BP, Moroi SE, Downs CA, et al. A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger Syndrome. 2004;25:57-62.

Lim P, Lichter PR, Higashi M, Downs CA, Richards JE. Septuagenarian’s phenotype leads to ascertainment of familial MYOC gene mutation. J Glaucoma 2003;12:98-103.

Moroi, SE, Gokhale P, Schteingart M, et al. Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. Am J Ophthalmol 2003;135:461-470.

Ayyagari R, Demirci FY, Liu J, et al. X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics 2002;80:166-171.

Thompson DA, McHenry CL, Li Y, et al. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. Am J Hum Genet 2002;70:224-229.

Thompson DA, Gyurus P, Fleischer LL, et al. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. IOVS 2000;41:4293-4299.

Shimizu S, Lichter PR, Johnson AT, et al. Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol 2000;130:165-177.

Hiriyanna KT, Bingham EL, Yashar BM, et al. Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. Hum Mutation 1999;14:423-427.

Sieving PA, Bingham EL, Kemp J, Richards JE, Hiriyanna K. Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave. Am J Ophthalmol 1999;128:179-184.

Rozsa F, Othman MI, Shimizu S, et al. GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein. Mol Vis 1998;4:20.

Othman MI, Sullivan SA, Skuta GL, et al. Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle closure glaucoma maps to chromosome 11. Am J Hum Genet 1998;63:1411-1418.

Richards JE, Ritch R, Lichter PR, et al. Novel TIGR (trabecular meshwork inducible glucocorticoid response) mutation in an eight generation juvenile onset primary open angle glaucoma pedigree. Ophthalmology 1998;105:1698-1707.

Vollrath D, Jaramillo-Babb VL, Clough MV, et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in Nail-Patella Syndrome. Hum Mol Genet 1998;7:1091-1098.

Lichter PR, Farley F, Stringham HM, et al. Co-segregation of open-angle glaucoma and the nail-patella syndrome. Am J Ophthalmol 1997;124:506-515.

Lutz CM, Frankel WN, Richards JE, Thompson DA. Neuropeptide Y Receptor genes on human chromosome 4q31-q32 map to conserved linkage groups on mouse chromosomes 3 and 8. Genomics 1997;41:498-500.

Richards JE, Lichter PR, Herman S, et al. Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle age onset primary open angle glaucoma. Ophthalmology 1996;103:1035-1040.

Hou Y-C, Richards JE, Bingham EL, et al. Linkage study of Best vitelliform macular dystrophy (VMD2) in a large North American family. Hum Hered 1996;46:211-220.

Johnson AT, Richards JE, Boehnke M, et al. Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q. Ophthalomology 1996;103:808-814.

Sieving PA, Richards JE, Naarendorp F, et al. Dark-light: model for nightblindness from the human rhodopsin Gly90. Proc Natl Acad Sci U S A 1995;92:880-884.

Richards JE, Lichter PR, Boehnke M, et al. Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q. Am J Hum Genet 1994;54: 62-70.