Julia E. Richards, Ph.D.
Harold F. Falls Professor of Ophthalmology and Visual Sciences
Professor of Epidemiology
Director, Glaucoma Research Center of the W. K. Kellogg Eye Center
The University of Michigan
Email: richj@umich.edu

Administrative assistant:
Michelle Daoud
Phone: 734-763-3732
FAX: 734-615-0542
Email: lowdenm@umich.edu

The research program of Dr. Julia Richards, Ph.D. focuses on the underlying causes of hereditary eye disease and the normal processes of ocular aging. Her research has a long-term emphasis on the group of diseases classified as glaucoma, one of the leading causes of irreversible blindness in the United States. Several recent breakthroughs in gene mapping and identification of disease genes, disease risk factors, and risk factors associated with endophenotypes, have resulted from her collaborations with glaucoma specialists Paul R. Lichter, MD, Sayoko Moroi, MD, PhD, and Joshua Stein, MD, MS, and biostatistical geneticists Michael Boehnke, PhD, and Jun Li, PhD, and researchers at other institutions including Stanford, University of Oklahoma, Harvard and Duke University. More recently she has expanded her international collaborations through interaction with the International Glaucoma Genetics Consortium. She contributed three of the twelve populations in the ten-center NEIGHBOR genome-wide association study (GWAS) that has led to breakthroughs in identification of common SNPs associated with open-angle glaucoma its endophenotypes as well as novel pathways associated with glaucoma.

Her work on characterizing specific glaucoma genes and their role in glaucoma and related phenomena is paralleled by efforts to better understand the clinical characteristics associated with particular genes and mutations. Studies at the level of genes, cells, animals and people all assist in our efforts to sort through the underlying causes of the hereditary glaucomas and evaluate the relationships between the glaucomas and a variety of abnormal developmental processes, both ocular and non-ocular. Linkage analysis, genome wide association studies, whole exome sequencing, expression profiling all contribute to our search for the underlying causes of inherited eye disease.

A representative list of publications and presentations produced by Dr. Richards and her staff and collaborators are listed below. For an exhaustive listing, please see 🗐 Dr. Richards' complete bibliography.

Selected Pubications

• 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 May 28. doi: 10.1001/jamaophthalmol.2015.1440. 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

• 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.

• 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

• 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

• 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
• 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.

• 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.

• Gonçalo R. Abecasis, Beverly M. Yashar, Yu Zhao, Noor M. Ghiasvand, Sepideh Zareparsi, Kari E. H. Branham, Adam C. Reddick, Edward H. Trager, Shigeo Yoshida, John Bahling, Elena Filippova, Susan Elner, Mark W. Johnson, Andrew K. Vine, Paul A. Sieving, Samuel G. Jacobson, Julia E. Richards, and Anand Swaroop (2004). Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage Disease. Am. J. Hum. Genet., 74:482-494.
• Shimizu S, Krafchak C, Fuse N, Epstein MP, Schteingart MT, Sugar A, Eibschitz-Tsimhoni M, Downs CA, Rozsa F, Trager EH, Reed DM, Boehnke M, Moroi SE, Richards JE. (2004). A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10. Am J Med Genet A. 2004 Nov 1;130(4):372-7. PMID: 15384081.

• R. M. Ayala-Lugo, P. R. Lichter, H. S. Pawar, A. Aledavood, S. E. Moroi, C. A. Downs, T. M. Guckian, W. C. Bromley, C. T. Ntim-Amponash, A. Mendoza, V. Azocar, E. J. Maul, B. F. Boyd, S. B. Lewis, J. E. Richards: Optineurin (OPTN) screening in Primary Open Angle-Glaucoma (POAG). Presented at the Annual Meeting of American Academy of Ophthalmology, Anaheim, CA, 2003.
• Sayoko E. Moroi MD, PhD, Parag A. Gokhale MD, Miriam T. Schteingart MD, Alan Sugar MD, Catherine A. Downs MS, Satoko Shimizu MD, Charles Krafchak MPH, Nobuo Fuse MD, Susan G. Elner MD, Victor M. Elner MD, PhD, Andrew Flint MD, Michael P. Epstein PhD, Michael Boehnke PhD, and Julia E. Richards PhD (2003), Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy . American Journal of Ophthalmology, Vol. 135, No. 4: 461-470.

• Satoko Shimizu, MD, Paul R. Lichter, MD, A. Tim Johnson, MD, PhD, Zhaohui Zhou, PhD, Misao Higashi, BS, Maria Gottfredsdottir, MD, Mohammad Othman, PhD, Sayoko Moroi, MD, PhD, Frank W. Rozsa, PhD, Robert M Schertzer, MD, Margo S. Clarke, MD, Arthur L. Schwartz, MD, Catherine A. Downs, MS, Douglas Vollrath, MD, PhD, and Julia E. Richards, PhD. (2002). Age-dependent prevalence of mutations at the GLC1A Locus in primary open-angle glaucoma . American Journal of Ophthalmology, Vol. 130, No. 2: 165-177.
• 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.

• 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.
• 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
• Douglas Vollrath, Virna L. Jaramillo-Babb, Mark V. Clough, Ian McIntosh, Kathleen M Scott, Paul R. Lichter and Julia E. Richards (1998). Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome . Human Molecular Genetics, Vol. 7, No. 7: 1091-1098.

• 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.

Current Lab Members

Marissa Cloutier, Graduate Research Assistant

Madeline

Madeline is a pedigree visualization software program written by Ed Trager. The program exists in two versions. Madeline version 2.0 is the new and currently-maintained version based on a modern C++ code base. Madeline version 0.936 and predecessors are based on a much older legacy code base written primarily in ANSI C. The two versions have different feature sets and thus both are available for download. Most people will prefer to use the newer 2.0 version.

Madeline v. 2.0 Pedigree Drawing Engine

Madeline v. 2.0 Pedigree Drawing Engine (PDE) is a pedigree drawing program designed primarily for use in linkage and family-based association studies, but may be used in many other contexts where pedigree visualization is required. The program is designed to handle large and complex pedigree structures with an emphasis on readability and aesthetics. For complex pedigrees, we use a hybrid algorithm in which consanguinous loops are drawn as cyclic graphs whenever possible, but we resort to acyclic graphs when matings can no longer be connected without line crossings. A similar hybrid approach is used to avoid line crossings for matings between distant descendants of different founding groups. Written in object-oriented C++ and released under the GNU General Public License (GPL), Madeline 2.0 PDE reads input files specified on the command line and generates pedigree drawings without user interaction. Pedigree output in scalable vector graphics (SVG) format can be viewed in modern web browsers with native SVG rendering support; and viewed and edited in modern vector graphics editing software such as Inkscape or Adobe Illustrator.

Madeline v. 0.935, 0.936 and predecessors

Madeline v. 0.936 —and preceding versions— is a program written by Ed Trager for preparing, visualizing, and exploring human pedigree data used in genetic linkage studies. Madeline converts pedigree and marker data into formats required by popular linkage analysis packages, provides powerful ways to query pedigree data sets, and produces Postscript pedigree drawings that are useful for rapid data review. Madeline is released under the GNU General Public License (GPL).

Shuffle

Shuffle is a utility written in optimized C++ to randomly shuffle a DNA sequence any number of times. Please refer to Shuffle Documentation and Downloads for details.