This is the web server of Dr. Julia Richard's glaucoma research lab at the Kellogg Eye Center, University of Michigan Medical Center, Ann Arbor, Michigan, USA.

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University of Michigan UM Health System Kellogg Eye Center UM SPH Epidemiology

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Richards JE, Lichter PR, Boehnke M, Uro JLA, Torrez D, Wong D, Johnson AT. (1994) Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q. Am J Hum Genet 54: 62-70.

Johnson AT, Richards JE, Boehnke M, Stringham HM, Herman SB, Wong DJ, Lichter PR. (1996) Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q. Ophthalmol 103:808-814.

Richards JE, Lichter PR, Herman S, Hauser ER, Hou Y-C, Johnson AT, Boehnke M. (1996) Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle age onset primary open angle glaucoma. Ophthalmol 103:1035-1040.

Lichter PR, Richards JE, Downs CA, Stringham HM, Boehnke M, Farley F. (1997) Co-segregation of open-angle glaucoma and the nail-patella syndrome. Am J Ophthalmol 124:506-515.

Vollrath D, Jaramillo-Babb VL, Clough MV, McIntosh I, Scott KM, Lichter PR, Richards JE. (1998) Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in Nail-Patella Syndrome. Hum Mol Genet 7:1091-1098.

Othman MI, Sullivan SA, Skuta GL, Cockrell DA, Stringham HM, Downs CA, Fornes A, Mick A, Boehnke M, Vollrath D, Richards JE. (1998) Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle closure glaucoma maps to chromosome 11. Am J Hum Genet 63:1411-1418.

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 (2000). Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol 130:165-177.

Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A (2002). 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 70(1):224-229.

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. (2003). Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. Am J Ophthalmol 135:461-470.

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

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 (2004). A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10 Am J Med Genet. 130:372-377.

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 (2004). Age-related macu lar degeneration: A high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease.Am J Hum Genet 74:482-494.

Krafchak CM, Pawar H, Moroi SE, Sugar A, Lichter PR, Mackey DA, Mian S, Nairus T, Elner V, Schteingart MT, Downs CA, Guckian Kijek T, Johnson J, Trager EH, Rozsa FW, Mandal MNA, 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 77:694-708 (This paper 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).

Rozsa FW, Reed DM, Scott KM, Pawar H, Moroi SE, Guckian Kijek T, 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 12:125-41.

Woodroffe A, Krafchak C, 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 82:1068-1074.

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.

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.

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, Mendoza A. A, Perez-Grossmann R, Guevara-Fujita ML, Fujita R, Wallace MR, Julia E. Richards JE. Variation in Optineurin (OPTN) Allele Frequencies Between and Within Populations Mol Vis 2007; 13:151-