2015-2010

• Li Z, Allingham RR, Nakano M, Jia L, Chen Y, Ikeda Y, Mani B, Chen LJ, Kee C, Garway-Heath DF, Sripriya S, Fuse N, Abu-Amero KK, Huang C, Namburi P, Burdon K, Perera SA, Gharahkhani P, Lin Y, Ueno M, Ozaki M, Mizoguchi T, Krishnadas SR, Osman EA, Lee MC, Chan AS, Tajudin LS, Do T, Goncalves A, Reynier P, Zhang H, Bourne R, Goh D, Broadway D, Husain R, Negi AK, Su DH, Ho CL, Blanco AA, Leung CK, Wong TT, Yakub A, Liu Y, Nongpiur ME, Han JC, Hon do N, Shantha B, Zhao B, Sang J, Zhang N, Sato R, Yoshii K, Panda-Jonas S, Ashley Koch AE, Herndon LW, Moroi SE, Challa P, Foo JN, Bei JX, Zeng YX, Simmons CP, Bich Chau TN, Sharmila PF, Chew M, Lim B, Tam PO, Chua E, Ng XY, Yong VH, Chong YF, Meah WY, Vijayan S, Seongsoo S, Xu W, Teo YY, Cooke Bailey JN, Kang JH, Haines JL, Cheng CY, Saw SM, Tai ES; ICAARE-Glaucoma Consortium; NEIGHBORHOOD Consortium, Richards JE, Ritch R, Gaasterland DE, Pasquale LR, Liu J, Jonas JB, Milea D, George R, Al-Obeidan SA, Mori K, Macgregor S, Hewitt AW, Girkin CA, Zhang M, Sundaresan P, Vijaya L, Mackey DA, Wong TY, Craig JE, Sun X, Kinoshita S, Wiggs JL, Khor CC, Yang Z, Pang CP, Wang N, Hauser MA, Tashiro K, Aung T, Vithana EN. A common variant near TGFBR3 is associated with primary open angle glaucoma. Hum Mol Genet. 2015 Jul 1;24(13):3880-92. PMCID: PMC4459396.
• Lin HC, Stein JD, Nan B, Childers D, Newman-Casey PA, Thompson DA5, Richards JE. Association of Geroprotective Effects of Metformin and Risk of Open-Angle Glaucoma in Persons With Diabetes Mellitus. JAMA Ophthalmol. 2015;133(8):915-923. PMCID: PMC4537372.

• Argento A, Kim W, Rozsa FW, DeBolt KL, Zikanova S, Richards JE. Shear Behavior of Bovine Scleral Tissue. Journal of Biomechanical Engineering-Transactions of the Asme. Jul 2014;136(7). PMID: 24805965.
• Bailey JN, Yaspan BL, Pasquale LR, Hauser MA, Kang JH, Loomis SJ, Brilliant M, Budenz DL, Christen WG, Fingert J, Gaasterland D, Gaasterland T, Kraft P, Lee RK, Lichter PR, Liu Y, McCarty CA, Moroi SE, Richards JE, Realini T, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Wollstein G, Zack DJ, Zhang K, Pericak-Vance MA, Allingham RR, Weinreb RN, Haines JL, Wiggs JL. Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma. Hum Genet. 2014 Oct;133(10):1319-30. PMCID: PMC4273559
• Garnai SJ, Huyghe JR, Reed DM, Scott KM, Liebmann JM, Boehnke M, Richards JE, Ritch R, Pawar H. Congenital cataracts: de novo gene conversion event in CRYBB2. Molecular Vision 2014; 20:1579-1593
• Hysi PG, Cheng CY, Springelkamp H, Macgregor S, Bailey JN, Wojciechowski R, Vitart V, Nag A, Hewitt AW, Höhn R, Venturini C, Mirshahi A, Ramdas WD, Thorleifsson G, Vithana E, Khor CC, Stefansson AB, Liao J, Haines JL, Amin N, Wang YX, Wild PS, Ozel AB, Li JZ, Fleck BW, Zeller T, Staffieri SE, Teo YY, Cuellar-Partida G, Luo X, Allingham RR, Richards JE, Senft A, Karssen LC, Zheng Y, Bellenguez C, Xu L, Iglesias AI, Wilson JF, Kang JH, van Leeuwen EM, Jonsson V, Thorsteinsdottir U, Despriet DD, Ennis S, Moroi SE, Martin NG, Jansonius NM, Yazar S, Tai ES, Amouyel P, Kirwan J, van Koolwijk LM, Hauser MA, Jonasson F, Leo P, Loomis SJ, Fogarty R, Rivadeneira F, Kearns L, Lackner KJ, de Jong PT, Simpson CL, Pennell CE, Oostra BA, Uitterlinden AG, Saw SM, Lotery AJ, Bailey-Wilson JE, Hofman A, Vingerling JR, Maubaret C, Pfeiffer N, Wolfs RC, Lemij HG, Young TL, Pasquale LR, Delcourt C, Spector TD, Klaver CC, Small KS, Burdon KP, Stefansson K, Wong TY; BMES GWAS Group; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2, Viswanathan A, Mackey DA, Craig JE, Wiggs JL, van Duijn CM, Hammond CJ, Aung T. Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. Nat Genet. 2014 Aug 31. PMID: 25173106. PMCID: PMC4177225
• Kang JH, Loomis SJ, Yaspan BL, Bailey JC, Weinreb RN, Lee RK, Lichter PR, Budenz DL, Liu Y, Realini T, Gaasterland D, Gaasterland T, Friedman DS, McCarty CA, Moroi SE, Olson L, Schuman JS, Singh K, Vollrath D, Wollstein G, Zack DJ, Brilliant M, Sit AJ, Christen WG, Fingert J, Forman JP, Buys ES, Kraft P, Zhang K, Allingham RR, Pericak-Vance MA, Richards JE, Hauser MA, Haines JL, Wiggs JL, Pasquale LR. Vascular Tone Pathway Polymorphisms in Relation to Primary Open Angle Glaucoma. Eye (London, England). 2014 Jun; 28(6):662-71. PMCID: PMC4058608
• Liu Y, Garrett ME, Yaspan BL, Cooke Bailey JN, Loomis SJ, Brilliant M, Budenz DL, Christen WG, Fingert J, Gaasterland D, Gaasterland T, Kang JH, Lee RK, Lichter PR, Moroi SE, Realini T, Richards J, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Weinreb RN, Wollstein G, Zack DJ, Zhang K, Pericak-Vance M, Haines JL, Pasquale LR, Wiggs JL, Allingham RR, Ashley-Koch A, Hauser MA. DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma. Invest Ophthalmol Vis Sci. 2014 Nov 20;55(12):8251-8. PMCID: PMC4271633
• Loomis SJ, Kang JH, Weinreb RN, Yaspan BL, Cooke Bailey JN, Gaasterland D, Gaasterland T, Lee RK, Lichter PR, Budenz DL, Liu Y, Realini T, Friedman DS, McCarty CA, Moroi SE, Olson L, Schuman JS, Singh K, Vollrath D, Wollstein G, Zack DJ, Brilliant M, Sit AJ, Christen WG, Fingert J, Kraft P, Zhang K, Allingham RR, Pericak-Vance MA, Richards JE, Hauser MA, Haines JL, Pasquale LR, Wiggs JL. Association of CAV1/CAV2 genomic variants with primary open angle glaucoma overall and by gender and pattern of visual field loss. Ophthalmology. 2014 Feb;121(2):508-16. PMCID: PMC3937766
• 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. Genome-wide association study and meta-analysis of intraocular pressure. Hum Genet. 2014 Jan;133(1):41-57. PMID: 24002674. PMCID: PMC3982323

• Liu Y, Hauser MA, Akafo SK, Qin X, Miura S, Gibson JR, Wheeler J, Gaasterland DE, Challa P, Herndon LW, ICAARE-Glaucoma, Ritch R, Moroi SE, Girkin CA, Budenz DL, Wiggs J, Richards JE, Ashley-Koch A, Allingham R. Investigation of Known Genetic Risk Factors for POAG in Two Populations of African Ancestry. Invest Ophthalmol Vis Sci 2013;17;54:6248-54. PMCID: PMC3776712
• Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, Hewitt AW, Koehn D, Hysi PG, Ramdas WD, Zeller T, Vithana EN, Cornes BK, Tay WT, Tai ES, Cheng CY, Liu J, Foo JN, Saw SM, Thorleifsson G, Stefansson K, Dimasi DP, Mills RA, Mountain J, Ang W, Hoehn R, Verhoeven VJ, Grus F, Wolfs R, Castagne R, Lackner KJ, Springelkamp H, Yang J, Jonasson F, Leung DY, Chen LJ, Tham CC, Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, MacLeod A, Ennis S, Polasek O, Campbell H, Wilson JF, Viswanathan AC, Fleck B, Li X, Siscovick D, Taylor KD, Rotter JI, Yazar S, Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Haines JL, Kang JH, Pasquale LR, Allingham RR, Ashley-Koch A; NEIGHBOR Consortium, Mitchell P, Wang JJ, Wright AF, Pennell C, Spector TD, Young TL, Klaver CC, Martin NG, Montgomery GW, Anderson MG, Aung T, Willoughby CE, Wiggs JL, Pang CP, Thorsteinsdottir U, Lotery AJ, Hammond CJ, van Duijn CM, Hauser MA, Rabinowitz YS, Pfeiffer N, Mackey DA, Craig JE, Macgregor S, Wong TY. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet. 2013;45:155-63. PMCID: PMC3720123
• Pasquale LR, Loomis SJ, Kang JH, Yaspan BL, Abdrabou W, Budenz DL, Chen TC, Delbono E, Friedman DS, Gaasterland D, Gaasterland T, Grosskreutz CL, Lee RK, Lichter PR, Liu Y, McCarty CA, Moroi SE, Olson LM, Realini T, Rhee DJ, Schuman JS, Singh K, Vollrath D, Wollstein G, Zack DJ, Allingham RR, Pericak-Vance MA, Weinreb RN, Zhang K, Hauser MA, Richards JE, Haines JL, Wiggs JL. CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. Am J Ophthalmol. 2013;155:342-353.e5. PMCID: PMC3544983
• Pasquale LR, Loomis SJ, Weinreb RN, Kang JH, Yaspan BL, Bailey JC, Gaasterland D, Gaasterland T, Lee RK, Scott WK, Lichter PR, Budenz DL, Liu Y, Realini T, Friedman DS, McCarty CA, Moroi SE, Olson L, Schuman JS, Singh K, Vollrath D, Wollstein G, Zack DJ, Brilliant M, Sit AJ, Christen WG, Fingert J, Kraft P, Zhang K, Allingham RR, Pericak-Vance MA, Richards JE, Hauser MA, Haines JL, Wiggs JL. Estrogen pathway polymorphisms in relation to primary open angle glaucoma: An analysis accounting for gender from the United States. Molecular vision 2013;19:1471-81. PMCID: PMC3712669
• Shi D, Funayama T, Mashima Y, Takano Y, Shimizu A, Yamamoto K, Mengkegale M, Miyazawa A, Yasuda N, Fukuchi T, Abe H, Ideta H, Nishida K, Nakazawa T, Richards JE, Fuse N. Association of HK2 and NCK2 with normal tension glaucoma in the Japanese population. PLoS One. 2013;8:e54115. PMCID: PMC3551945
• Wiggs JL, Hauser MA, Abdrabou W, Allingham RR, Budenz DL, Delbono E, Friedman DS, Kang JH, Gaasterland D, Gaasterland T, Lee RK, Lichter PR, Loomis S, Liu Y, McCarty C, Medeiros FA, Moroi SE, Olson LM, Realini A, Richards JE, Rozsa FW, Schuman JS, Singh K, Stein JD, Vollrath D, Weinreb RN, Wollstein G, Yaspan BL, Yoneyama S, Zack D, Zhang K, Pericak-Vance M, Pasquale LR, Haines JL. The NEIGHBOR Consortium Primary Open-Angle Glaucoma Genome-wide Association Study: Rationale, Study Design, and Clinical Variables. J Glaucoma. 2013 Sep;22)7):517-25. PMCID: PMC3485429

• Mendoza-Reinoso V, Patil TS, Guevara-Fujita ML, Fernández S, Vargas E, Castillo-Herrera W, Perez-Grossmann R, Lizaraso-Caparó F, Richards JE, Fujita RR. Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population. Mol Vis 2012; 18:2067-2075. PMCID: PMC3413416
• Stein JD, Newman-Casey PA, Talwar N, Nan B, Richards JE, Musch DC. The Relationship Between Statin Use and Open-Angle Glaucoma. Ophthalmology 2012;119:2074-2081. PMCID: PMC3459293
• Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Hawthorne F, Budenz DL, Friedman DS, Gaasterland D, Haines J, Kang JH, Lee R, Lichter P, Liu Y, Pasquale LR, Pericak-Vance M, Realini A, Schuman JS, Singh K, Vollrath D, Weinreb R, Wollstein G, Zack DJ, Zhang K, Young T, Allingham RR, Wiggs JL, Ashley-Koch A, Hauser MA. Genome-Wide Analysis of Central Corneal Thickness in Primary Open-Angle Glaucoma Cases in the NEIGHBOR and GLAUGEN Consortia. Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4468-74. PMCID: PMC3394688
• Wiggs JL, Yaspan BL, Hauser MA, Kang JH, Allingham RR, Olson LM, Abdrabou W, Fan BJ, Wang DY,Brodeur W, Budenz DL, Caprioli J, Crenshaw A, Crooks K, DelBono E, Doheny KF, Friedman DS, Gaasterland D, Gaasterland T, Laurie C, Lee RK, Lichter PR, Loomis S, Liu Y, Medeiros FA, McCarty C, Mirel D, Moroi SE, Musch DC, Realini A, Rozsa FW, Schuman JS, Scott K, Singh K, Stein JD, Trager EH, VanVeldhuisen P, Vollrath D, Wollstein G, Yoneyama S, Zhang K, Weinreb RN, Ernst J, Kellis M, Masuda T, Zack D, Richards JE, Pericak-Vance M, Pasquale LR, Haines JL. Common Variants at 9p21 and 8q22 Are Associated with Increased Susceptibility to Optic Nerve Degeneration in Glaucoma. PLoS Genet. 2012;8: e1002654. PMCID: PMC3343074

• Stein JD,Pasquale LR, Talwar N, Kim DS, Reed DM, Nan B, Kang JH, Wiggs JL, Richards JE. Geographic and Climatic Factors Associated with the Exfoliation Syndrome. Arch Ophthalmol. 2011;129:1053-60. PMCID: PMC3198850
• Stein JD, Kim DS, Niziol LM, Talwar N, Nan B, Musch, Richards JE. Differences in Rates of Glaucoma Among Asian Americans Compared With Other Races and Among Individuals of Different Asian Ethnicities. Ophthalmology. 2011;118:1031-7. PMCID: PMC3109193
• Yutao Liu; Jason Gibson; Joshwa Wheeler; Cecile Santiago-Turla; Stephen K Akafo; Paul Lichter; Douglas E Gaasterland; Sayoko E Moroi; Pratap Challa; Leon W Herndon; Christopher A Girkin;Donald L Budenz; Julia E Richards; R R Allingham; Michael A Hauser. GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease. PLoS One. 2011;6(11). PMCID: PMC3208571
• Zhang L, Sun Y, Johnson MW, Richards JE, Moroi SE. Combined cilioretinal artery and central vein occlusions in juvenile glaucoma. Arch Ophthalmol. 2011;129:1231-4. PMCID: PMC3874464

2009-2000

• Moroi SE, Raoof DA, Reed DM, Zöllner S, Qin Z, Richards, JE. Progress toward Personalized Medicine for Glaucoma. Expert Review of Ophthalmology; 2009;4:145-161. PMCID: PMC3728985.

• Guevara-Fujita ML, Perez Grossmann R, 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. PMID: 18303389
• 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. PMID: 18195223

• 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; 2007;143:2549-56.
• Ayala-Lugo RM, Pawar H, Reed DM, Lichter PR, Moroi SE, Page M, Eadie J, Azocar V, Maul E, Ntim-Amponash C, Bromley W, Obeng-Nyarkoh E, Johnson AT, Guckian Kijek T, Downs CA, Johnson JM, Perez-Grossmann R, 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. PMCID: PMC2533035
• Downs CA, Zacks DN, Caruso R, Karoukis AJ, Branham K, Yashar BM, Haimann M, Karmen T, 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. PMID: 17296903
• 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 confers glaucoma of intermediate severity and in Caucasians originated from a common founder. Arch Ophthalmol; 2007; 125:98-104. PMCID:17210859
• Hewitt AW, Samples JR, Allingham RR, Järvelä 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. PMCID: PMC2649311
• McLaren N, Reed DM, Musch DC, Downs CA, Higashi ME, Santiago C, Radenbaugh PA, Allingham RR, Richards JE, Moroi SE. Evaluation of β2-adrenergic receptor gene as a candidate glaucoma gene in two ancestral populations. Arch Ophthalmol; 2007;125:105-111.
• Richards JE. Myocilin gene dosage. Letter to the editor published in International Glaucoma Review, Volume 9-2, 2007, p. 69, in response to the article Myocilin variants in Indian patients with open-angle glaucoma by Bhattacharjee A; Acharya M; Mukhopadhyay A et al., Archives of Ophthalmology; 2007;125: 823-829.
• 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. PMID: 17210862
• Trager EH, Khanna R, Marrs A, Siden L, Branham K, Swaroop A, Richards JE. Madeline 2.0 PDE: A new program for local and web-based pedigree drawing. Bioinformatics; 2007;23:1854-6.

• 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;90:1505-9. PMCID: PMC1857543
• Radenbaugh PA, Goyal A, Reed DM, Musch DC, Richards JE, Moroi SE. Concordance of aqueous humor flow in the morning and nighttime in normal humans. Invest Ophthalmol Vis Sci; 2006;47:4860-4864.
• Rozsa FW, Reed DM, Scott KM, Pawar H, Moroi SE, Kijek TG, Krafchak CM, Othman MI, Vollrath D, Elner VM, Richards JE. (2006). Gene expression profile of human trabecular meshwork cells in response to long-term dexamethasone exposure. Mol Vis. 2006 Feb 27;12:125-41. PMID: 16541013.
• Woodroffe A, Krafchak CM, Fuse N, Lichter PR, Moroi SE, Schertzer R, Downs CA, Duren WL, Boehnke M, Richards JE. (2006). Ordered subset analysis supports a glaucoma locus at GLC1I on chromosome 15 in families with earlier adult age at diagnosis. Exp Eye Res. 2006 Jun;82(6):1068-74. Epub 2005 Nov 18. PMID: 16298363.

• Bucher RS, Hall E, Richards JE, Reed DM, Johnson MW, Zacks DN. Effect of intravitreal triamcinolone acetonide on susceptibility to experimental bacterial endophthalmitis and subsequent response to treatment. Arch Ophthalmol 2005;123:649-53.
• 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. (2005). Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet. 2005 Nov; 77(5):694-708. Epub 2005 Sep 14. PMID: 16252232. PMCID: PMC1271382
  This is the paper for which first author Charles Krafchak won the Cotterman Award given by the American Society of Human Genetics to the two students with the two best papers in American Journal of Human Genetics for 2005-2006.
• Zareparsi S, Buraczynska M, Branham KEH, Shah S, Eng D, Li MY, Pawar H, Yashar BM, Moroi SE, Lichter PR, Petty HR, Richards JE, Abecasis GR, Elner VM, Swaroop A. Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Hum Mol Genet. 2005;14:1449-55. PMID: 15829498

• Abecasis GR, Yashar BM, Zhao Y, Ghiasvand NM, Zareparsi S, Branham KEH, Reddick AC, Trager EH, Yoshida S, Bahling J, Filippova E, Elner S, Johnson MW, Vine AK, Sieving PA, Jacobson SG, Richards JE, Swaroop AS. Age-related macular degeneration: A high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet 2004;74:482-494.
• Brooks BP, Moroi SE, Downs CA, Wiltse S. Othman MI, Semina EV, Richards JE. A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome. Ophthalmic Genet 2004;25:57-62.
• Levin L, Ritch R, Richards JE, Borras T. Stem cell therapy for ocular disorders. Arch Ophthalmol 2004;122:621-627.
• Shimizu S, Krafchak C, Fuse N, Epstein M, Schteingart MT, Sugar A, Eibschitz-Tsimhoni M, Downs CA, Rozsa F, Trager E, Reed D, Boehnke M, Moroi SE, Richards JE. A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10 Am J Med Genet 2004;130:372-377.

• 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. PMID: 12671462
• Moroi SE, Gokhale P, Schteingart M, Sugar A, Downs CA, Shimizu S, Krafchak C, Fuse N, Elner SG, Elner VM, Flint A, Epstein M, Boehnke M, Richards JE. 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, Bingham E, Stringham H, Kakuk LE, Boehnke M, Gorin M, Richards JE, Sieving PA. X-linked recessive atrophic macular degeneration from RPGR mutation. Genomics 2002;80:166-171.
• Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A. 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(1):224-229.

• Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, Othman M, Moroi SE, Schertzer R, Clarke MS, Schwartz AL, Downs CA, Vollrath D, Richards JE. Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol 2000;130:165-177. PMID:11004290
• Thompson DA, Gyurus P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci 2000;41:4293-9.

1999-1990

• Farley FA, Lichter PR, Downs CA, McIntosh I, Vollrath D, Richards JE. An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma. J Pediatr Orthopaed 1999;19:624-31.
• Hiriyanna KT, Bingham EL, Yashar BM, Ayyagari R, Fishman G, Small KW, Weinberg DV, Weleber RG, Lewis RA, Andreasson S, Richards JE, Sieving PA. 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.
• Zimmerman CC, Lingappa VR, Richards JE, Rozsa FW, Lichter PR, Polansky JR. A trabecular meshwork glucocorticoid response (TIGR) gene mutation affects translocational processing. Mol Vis 1999;5:19 (6 pages).

• Eyaid WM, Clough MV, Root H, Scott K, McKormick K, Zhang X, Lisitsyn NA, Kearns WG, Francomano CA, Richards JE, McIntosh I. Physical Mapping of the nail-patella syndrome interval at 9q34: Ordering of STSs and ESTs. Hum Genet 1998;103: 525-526.
• Othman MI, Sullivan SA, Skuta GL, Cockrell DA, Stringham HM, Downs CA, Fornes A, Mick A, Boehnke M, Vollrath D, Richards JE. 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, Rozsa F, Stringham H, Caronia RM,Johnson D, Abundo GP, Willcockson J, Downs C, Thompson DA, Musarella M, Gupta N, Othman M, Torrez D, Herman S, Wong D, Higashi M, Boehnke M. Novel trabecular meshwork inducible glucocorticoid response mutation in an eight generation juvenile onset primary open angle glaucoma pedigree. Ophthalmol 1998;105:1698-1707.
• Rozsa F, Othman MI, Shimizu S, Lichter PR, Johnson AT, Scott K, Nguyen TD, Polansky JR, Richards JE. GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein. Mol Vis 1998;4:20 (16 pages).
• The Retinoschisis Consortium (55 authors from 6 Groups) Functional implications of the spectrum of mutations found in 235 cases with X‑linked juvenile retinoschisis (XLRS). Hum Mol Genet 1998;7:1185-1192.
• Vollrath D, Jaramillo-Babb VL, Clough MV, McIntosh I, Scott KM, Lichter PR, Richards JE. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in Nail-Patella Syndrome. Hum Mol Genet 1998;7:1091-1098.

• Farjo Q, Jackson A, Pieke-Dahl S, Scott K, Kimbeling WJ, Sieving PA, Richards JE, Swaroop A. Human bZIP transcription factor gene NRL: Structure, genomic sequence, fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration. Genomics 1997;45:395-401.
• Lichter PR,, Richards JE, Boehnke M, Othman M, Cameron BD, Stringham HM, Downs CA, Lewis SB, Boyd BF. Juvenile glaucoma linked to the GLC1A gene on chromosome 1q in a Panamanian family. Am J Ophthalmol 1997;123:413-416.
• Lichter PR, Richards JE, Downs CA, Stringham HM, Boehnke M, Farley F. 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.
• Lutz CM, Richards JE, Scott KL, Sinha S, Yang-Feng TL, Frankel WN, Thompson DA. Neuropeptide Y Receptor Genes Mapped in Human and Mouse: Receptors with High Affinity for Pandreatic Polypeptide Are Not Clustered with Receptors Specific for Neuropeptide Y and Peptide YY. Genomics 1997;46: 287-290

• Hou Y-C, Richards JE, Bingham EL, Pawar H, Scott K, Segal M, Lunetta KL, Boehnke M, Sieving PA. Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family. Hum Hered 1996;46:211-220.
• Johnson AT, Richards JE, Boehnke M, Stringham HM, Herman SB, Wong DJ, Lichter PR. Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q. Ophthalmol 1996;103:808-814.
• Koop BF, Richards JE, Durfee TD, Bansberg J, Wells J, Gilliam AC, Chen HL, Clausell A, Tucker PW, Blattner FR. Analysis and comparison of the mouse and human immunoglobulin heavy chain JH-Cmu-Cdelta locus. Mol Phylogenet Evol 1996;5:33-49.
• Pawar H, Bingham EL, Hiriyanna K, Segal M, Richards JE. X-Linked juvenile retinoschisis: Localization between (DXS1195,DXS418) and AFM291wf5 on a single YAC. Hum Hered 1996;46:329-35.
• Richards JE, Lichter PR, Herman S, Hauser ER, Hou Y-C, Johnson AT, Boehnke M. Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle age onset primary open angle glaucoma. Ophthalmol 1996;103:1035-1040.

• Nicoletti A, Wong DJ, Kawase K, Gibson LH, Yang-Feng T.L., Richards JE, Thompson DA. Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium. Hum Mol Genet 1995;4:641-649.
• Pawar H, Bingham EL, Lunetta KL, Segal M, Richards JE, Boehnke M, Sieving PA. Refined genetic mapping of juvenile X-linked retinoschisis. Hum Hered 1995;45:206-210.
• Richards JE, Scott KM, Sieving PA. Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa. Ophthalmol 1995;102:669-677.
• Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M. Dark-light: Model for nightblindness from the human rhodopsin Gly-90 → Asp mutation. Proc Natl Acad Sci USA 1995;92:880-884.

• Richards JE, Lichter PR, Boehnke M, Uro JLA, Torrez D, Wong D, Johnson AT. Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q. Am J Hum Genet 1994;54: 62-70.
• Yan D, Wong D, Zheng K, Thiselton D, Fujita R, Sieving PA, Battacharya SS, Yang-Feng TL, Richards JE, Swaroop A. Dinucleotide repeat polymorphism at the DXS977 locus. Hum Mol Genet 1994;3:1030.

• Allitto BA, MacDonald ME, Bucan M, Richards J, Romano D, Whaley WL, Falcone B, Ianazzi J, Wexler NS, Wasmuth JJ, Collins FS, Lehrach H, Haines JL, Gusella JF. Increased recombination adjacent to the Huntington disease-linked D4S10 marker. Genomics, 1991;9:104-112.
• Richards JE, Kuo C-Y, Boehnke M, Sieving PA. Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa. Ophthalmol 1991;98:1797-1805.

• Bucan M, Zimmer M, Whaley L, Poustka A, Youngman S, Allito BA, Ormondroyd E, Smith B, Pohl TM, MacDonald M, Bates GP, Richards J, Volinia S, Gilliam TC, Sedlacek Z, Collins FS, Wasmuth JJ, Shaw DJ, Gusella JF, Frischauf A-M, Lehrach H. Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation. Genomics 1990;6:1-15.
• Hanzlik AJ, Binder M, Layton WM, Rowe L, Layton M, Taylor BA, Osemlak MM, Richards JE, Kurnit DM, and Stewart GD. The murine situs inversus (iv) gene responsible for visceral asymmetry is tightly linked to the IghC cluster on chromosome 12. Genomics 1990;7:389-393.

1989-1980

• Richards JE, Gilliam TC, Cole JL, Drumm ML, Wasmuth JJ, Gusella JF, and Collins FS. Chromosome jumping from D4S10 (G8) toward the Huntington Disease gene. Proc Natl Acad Sci USA 1988;85:6437-6441.

• Richards JE, Pravtcheva DD, Day C, Ruddle FH, Jones PP. Murine invariant chain gene: Chromosomal assignment and segregation in recombinant inbred strains. Immunogenet 1985;22:193-199.

• Gilliam AC, Shen A, Richards JE, Blattner FR, Mushinski JF, and Tucker PW. Illegitimate recombination generates a class switch from Cmu to Cdelta in an IgD-secreting plasmacytoma. Proc Natl Acad Sci USA 1984;81: 4164-4168.

• Richards JE, Gilliam AC, Shen A, Tucker PW, and Blattner FR. Unusual sequences in the murine immunoglobulin mu-delta heavy chain region. Nature 1983;306: 483-487.

• Newell N, Richards JE, Tucker PW, and Blattner FR. J genes for heavy chain immunoglobulins of mouse. Science 1980;209:1128-1132.

1979-1978

• Blattner FR, Blechl AE, Denniston-Thompson K, Faber HE, Richards JE, Slightom JL, TuckerPW, Smithies O. Cloning human fetal gamma globin and mouse alpha-type globin DNA: Preparation and screening of shotgun collections. Science 1978;202: 1279-1284.
• Smithies O, Blechl AE, Denniston-Thompson K, Newell N, Richards JE, Slightom JL, Tucker PW, and Blattner FR. Cloning human fetal gamma globin and mouse alpha-type globin DNA: Characterization and partial sequencing. Science 1978;202: 1284-1289.
• Tucker PW, Marcu KB, Newell N, Richards J, and Blattner FR. Sequences of the cloned gene for the constant region of murine gamma-2b immunoglobulin heavy chain. Science 1978;206: 1303-1306.

• Moroi SE, Richards JE. Glaucoma and Genomic Medicine. Glaucoma Today. P. 16, January/February, 2008.

• Richards JE. Comment: Optineurin. Editorial review (p. 23) of “Rezaie T, Child A, Hitchings R, Miller BG,Coca PM, Krupin HE, Ritch R, Kreutzer D: Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science. 2002;295:1077-1079.” in International Glaucoma Review 2002 VOLUME??, p.23.

• Richards JE, Ritch RR. The Sixth Annual Optic Nerve Rescue and Regeneration Think Tank: Developmental genetics in glaucoma. J Glaucoma 2001;10:71-73.
• Richards JE, Ritch RR. The Seventh Annual Optic Nerve Rescue and Regeneration Think Tank: Immune modulation and gene expression in glaucoma. J Glaucoma 2001;10:361-363.

• Richards JE, Ritch R. Researchers report progress in glaucoma gene hunt. Ophthalmology Times Dec 1999;24:7-8.

• Richards JE. Progress is good as glaucoma gene hunt continues. Ophthalmology Times, 1998;23:12-15.

• Lichter PR, Richards JE, Boehnke M, Othman M, Cameron BD, Stringham HM, Downs CA, Lewis SB, Boyd BF. Juvenile glaucoma linked to GLC1A in a Panamanian family. Transactions of the American Ophthalmologic Society 1997;44:335-351.

• Blattner FR, Richards JE, Shen A, Knapp M, Strober S, Gilliam AC, Jones S, Mushinski JF, Tucke PW. Genetic aspects of IgD expression: I. Analysis of the CµCδ complex in committed and uncommitted DNA in Immunoglobulin D: Structure and Function; Annals of the NY Academy of Sciences 1982;399:1-14 ed. G.J. Thorbecke and G.A. Leslie, New York Academy of Sciences (NY). PDF
• Tucker PW, Cheng HL, Richards JE, Fitzmaurice L, Mushinski JF, Blattner FR. Genetic aspects of IgD expression: III. Functional implications of the sequence and organization of the Cδ gene in Immunoglobulin D: Structure and Function; Annals of the New York Academy of Sciences 1982;399:26-38, ed. G.J. Thorbecke and G.A. Leslie, New York Academy of Sciences (NY). PDF

• Richards, Julia E. Unusual DNA Sequence Features of the J-Mu-Delta Immunoglobulin Heavy ChainRegion of BALB/c Mouse. Thesis submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy (Genetics) at the University of Wisconsin-Madison, 1983. University Microfilms publication # 83-13196, abstract in DAI-B 44/06, p. 1719.

• Richards JE, Hawley RS. (2011) The Human Genome: A User’s Guide, Third Edition. Elsevier (San Diego, USA).

• Richards JE, Hawley RS. (2005) The Human Genome: A User’s Guide, Second Edition. Elsevier (San Diego, USA).

• Klassen H, Young MJ, Ritch R, Richards JE, Borrás T, Levin LA. “Retinal stem cell research.” In Vitreoretinal Surgical Techniques (2nd Edition) Eds. Peyman G, Meffert SA, Conway MD. Abingdon, UK: Informa Healthcare: 2007. p.668-76.

• Brooks B, Richards JE, Lichter PR (2001). “Heredity and Glaucoma” in Duane’s Clinical Ophthalmology, ed. W Tasman and EA Jaeger, Lippincott, Williams and Wilkins (Philadelphia) Vol. 3, Chapter 50:1-16

• Lichter PR, Shimizu S, Downs CA, Rozsa FW, Richards JE. (2000) “Pitfalls in mutation screening for TIGR/MYOC.” Glaucoma Update VI, ed. G. K. Kriegelstein, Springer (Heidelberg-Berlin-New York).

• Richards JE. (1998) Commentary section in “Cystic fibrosis,” Chapter 15 in The Human Genome: A User’s Guide by RS Hawley and CA Mori, Academic Press (San Diego), pps. 249-254.
• Richards JE. (1998) Commentary section in “DNA polymorphisms as genetic markers in humans (and the miracle of PCR),” Chapter 13 of The Human Genome: A User’s Guide by RS Hawley and CA Mori, Academic Press (San Diego), pps. 212-230.
• Richards JE. (1998) Commentary section in “Human gene mapping: a general approach,” Chapter 14 in The Human Genome: A User’s Guide by RS Hawley and CA Mori, Academic Press (San Diego), pps. 231-244.
• Richards JE. (1998) Commentary section in “Introduction to gene cloning,” Chapter 12 of The Human Genome: A User’s Guide by RS Hawley and CA Mori, Academic Press (San Diego), pps. 178-211.
• Richards JE. (1998) Commentary section in “Mammoth genes: muscular dystrophy and neurofibromatosis,” Chapter 16 in The Human Genome: A User’s Guide by RS Hawley and CA Mori, Academic Press (San Diego), pps. 255-270.
• Richards JE. (1998) Commentary section in “Multifactorial inheritance: towards finding the genes for manic depression and schizophrenia,” Chapter 18 in The Human Genome: A User’s Guide by RS Hawley and CA Mori, Academic Press (San Diego), pps. 283-295.

• Johnson AT, Richards JE, Lichter PR. (1995) “Genetic Testing in Glaucoma” in Glaucoma Update V. Ed by G.K. Kriegelstein. Kaden Verlag (Heidelberg).