J. Richards

发表

Common Variants at 9p21 and 8q22 Are Associated with Increased Susceptibility to Optic Nerve Degeneration in Glaucoma

Manolis Kellis, B. Yaspan, J. Haines, 2012, PLoS genetics.

Estrogen pathway polymorphisms in relation to primary open angle glaucoma: An analysis accounting for gender from the United States

B. Yaspan, J. Haines, M. Pericak-Vance, 2013, Molecular vision.

GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein.

P. Lichter, M. Othman, J. Polansky, 1998, Molecular vision.

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.

P. Lichter, M. Othman, D. Vollrath, 2000, American journal of ophthalmology.

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

M. Boehnke, T. Aleman, Jun Z. Li, 2019, PLoS genetics.

The NEIGHBOR Consortium Primary Open-Angle Glaucoma Genome-wide Association Study: Rationale, Study Design, and Clinical Variables

B. Yaspan, J. Haines, M. Pericak-Vance, 2013, Journal of glaucoma.

A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium

Yeunjoo E. Song, J. Haines, M. Pericak-Vance, 2016 .

A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium

Yeunjoo E. Song, J. Haines, M. Pericak-Vance, 2016, Investigative ophthalmology & visual science.

CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States.

Robert N Weinreb, Terry Gaasterland, Gadi Wollstein, 2013, American journal of ophthalmology.

Chromosome jumping from D4S10 (G8) toward the Huntington disease gene.

F. Collins, M. Drumm, T. Gilliam, 1988, Proceedings of the National Academy of Sciences of the United States of America.

Precision medicine to prevent glaucoma-related blindness

L. Kagemann, S. Moroi, David M Reed, 2019, Current opinion in ophthalmology.

Proceedings of Statistics Canada Symposium 2001 Achieving Data Quality in a Statistical Agency: a Methodological Perspective the Data Quality Study of the Canadian Discharge Abstract Database

J. Richards, Ann Brown, C. Homan, 2022 .

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

Yeunjoo E. Song, J. Haines, M. Pericak-Vance, 2018, Investigative ophthalmology & visual science.

Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.

M. Alpern, P. Sieving, F. Naarendorp, 1995, Proceedings of the National Academy of Sciences of the United States of America.

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open angle glaucoma

Robert N Weinreb, Peter Kraft, Terry Gaasterland, 2015, Nature Genetics.

Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis.

J. Haines, M. Pericak-Vance, G. Wollstein, 2019, JAMA ophthalmology.

Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss.

Robert N Weinreb, Peter Kraft, Terry Gaasterland, 2014, Ophthalmology.

Illegitimate recombination generates a class switch from C mu to C delta in an IgD-secreting plasmacytoma.

F. Blattner, J. Mushinski, J. Richards, 1984, Proceedings of the National Academy of Sciences of the United States of America.

Genetics in Ophthalmology

J. Richards, R. Hufnagel, Stephen T Armenti, 2018, Journal of ophthalmology.

Loss-of-function mutations in the LIM-homeodomain gene , LMX 1 B , in nail – patella syndrome

P. Lichter, D. Vollrath, K. Scott, 1998 .

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

M. Pirinen, P. Donnelly, C. Spencer, 2019, Nature Communications.

GENETIC ASPECTS OF IgD EXPRESSION: I. ANALYSIS OF THE CµCδ COMPLEX IN COMMITTED AND UNCOMMITTED DNA

F. Blattner, Hwei-Ling Cheng, J. Mushinski, 1982 .

GENETIC ASPECTS OF IgD EXPRESSION: III. FUNCTIONAL IMPLICATIONS OF THE SEQUENCE AND ORGANIZATION OF THE Cδ GENE

F. Blattner, H. Cheng, J. Mushinski, 1982, Annals of the New York Academy of Sciences.

Neuropeptide Y receptor genes mapped in human and mouse: receptors with high affinity for pancreatic polypeptide are not clustered with receptors specific for neuropeptide Y and peptide YY.

W. Frankel, C. Lutz, D. Thompson, 1997, Genomics.

Neuropeptide Y receptor genes on human chromosome 4q31-q32 map to conserved linkage groups on mouse chromosomes 3 and 8.

W. Frankel, C. Lutz, D. Thompson, 1997, Genomics.

Differential expression profile prioritization of positional candidate glaucoma genes: the GLC1C locus.

J. Samples, M. K. Wirtz, F. Rozsa, 2007, Archives of ophthalmology.

The MAOA Gene

R. Hawley, J. Richards, 2005 .

Erratum

Yeunjoo E. Song, J. Haines, M. Pericak-Vance, 1937, Biological Psychiatry.

Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family.

K. Lunetta, P. Sieving, M. Boehnke, 1996, Human heredity.

Effect of intravitreal triamcinolone acetonide on susceptibility to experimental bacterial endophthalmitis and subsequent response to treatment.

D. Zacks, David M Reed, J. Richards, 2005, Archives of ophthalmology.

A trabecular meshwork glucocorticoid response (TIGR) gene mutation affects translocational processing.

P. Lichter, V. Lingappa, J. Polansky, 1999, Molecular vision.

Geographic and climatic factors associated with exfoliation syndrome.

Denise S. Kim, L. Pasquale, B. Nan, 2011, Archives of ophthalmology.

Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave.

P. Sieving, J. Richards, E. Bingham, 1999, American journal of ophthalmology.

Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs

M. K. McCormick, K. Scott, J. Richards, 1998, Human Genetics.

A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome

M. Othman, S. Moroi, J. Richards, 2004, Ophthalmic genetics.

Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq.

M. Boehnke, P. Lichter, J. Richards, 1994, American journal of human genetics.

Stem cell therapy for ocular disorders.

R. Ritch, L. Levin, J. Richards, 2004, Archives of ophthalmology.

An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma.

P. Lichter, D. Vollrath, J. Richards, 1999, Journal of pediatric orthopedics.

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

Tin Aung, Paul Mitchell, Ching-Yu Cheng, 2013, Nature Genetics.

Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia

F. Yu, J. Richards, A. Aldave, 2007, American journal of medical genetics. Part A.

Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy.

M. Boehnke, M. Epstein, S. Moroi, 2003, American journal of ophthalmology.

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.

M. Boehnke, M. Epstein, D. Mackey, 2005, American journal of human genetics.

A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10

Michael P Epstein, Michael Boehnke, Alan Sugar, 2004, American journal of medical genetics. Part A.

Effects of timolol on MYOC, OPTN, and WDR36 RNA levels.

S. Moroi, F. Rozsa, K. Scott, 2008, Archives of ophthalmology.

Sequence of the cloned gene for the constant region of murine gamma 2b immunoglobulin heavy chain.

F. Blattner, K. Marcu, J. Richards, 1979, Science.

Association of Geroprotective Effects of Metformin and Risk of Open-Angle Glaucoma in Persons With Diabetes Mellitus.

B. Nan, J. Stein, P. Newman-Casey, 2015, JAMA ophthalmology.

Cosegregation of open-angle glaucoma and the nail-patella syndrome.

M. Boehnke, H. Stringham, P. Lichter, 1997, American journal of ophthalmology.

Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa.

P. Sieving, J. Richards, K. Scott, 1995, Ophthalmology.

Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.

G. Abecasis, Mingyao Li, A. Swaroop, 2005, Human molecular genetics.

Toll-like receptor 4 variant D 299 G is associated with susceptibility to age-related macular degeneration

G. Abecasis, Mingyao Li, A. Swaroop, 2005 .

Cloning human fetal gamma globin and mouse alpha-type globin DNA: preparation and screening of shotgun collections.

F. Blattner, J. Slightom, A. Blechl, 1978, Science.

Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration.

P. Sieving, A. Jackson, A. Swaroop, 1997, Genomics.

Cloning human fetal gamma globin and mouse alpha-type globin DNA: characterization and partial sequencing.

F. Blattner, J. Slightom, A. Blechl, 1978, Science.

The murine situs inversus viscerum (iv) gene responsible for visceral asymmetry is linked tightly to the Igh-C cluster on chromosome 12.

G. D. Stewart, W. M. Layton, B. Taylor, 1990, Genomics.

Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation

J. Richards, Brenda L. Bohnsack, Lev Prasov, 2017, Journal of ophthalmology.

DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.

B. Yaspan, J. Haines, M. Pericak-Vance, 2014, Investigative ophthalmology & visual science.

Genetics DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma

B. Yaspan, J. Haines, M. Pericak-Vance, 2014 .

Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis

Yeunjoo E. Song, Adriana I. Iglesias, J. Haines, 2017, European Journal of Human Genetics.

Unusual sequences in the murine immunoglobulin μ–δ heavy-chain region

F. Blattner, J. Richards, P. Tucker, 1983, Nature.

J genes for heavy chain immunoglobulins of mouse.

F. Blattner, J. Richards, P. Tucker, 1980, Science.

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

S. Jacobson, M. Othman, D. Vollrath, 2002, American journal of human genetics.

Murine invariant chain gene: Chromosomal assignment and segregation in recombinant inbred strains

F. Ruddle, J. Richards, D. Pravtcheva, 2004, Immunogenetics.

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

P. Sieving, A. Ballabio, T. Rosenberg, 1998 .

X-linked recessive atrophic macular degeneration from RPGR mutation.

P. Sieving, M. Boehnke, H. Stringham, 2002, Genomics.

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.

P. Lichter, D. Vollrath, K. Scott, 1998, Human molecular genetics.

Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort

S. Archer, S. Moroi, S. Elner, 2020, Scientific Reports.

Increased recombination adjacent to the Huntington disease-linked D4S10 marker.

M. Bucan, M. MacDonald, N. Wexler, 1991, Genomics.

Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma

B. Yaspan, J. Haines, M. Pericak-Vance, 2014, Human Genetics.

Genome-wide analysis of multiethnic cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

Adriana I. Iglesias, Claire L. Simpson, A. Hofman, 2014, Nature Genetics.

Recurrent Myocilin Asn480Lys Glaucoma Causative Mutation Arises De Novo in a Family of Andean Descent

R. Fujita, J. Richards, A. Estrada-Cuzcano, 2007, Journal of glaucoma.

Unusual sequences in the murine immunoglobulin mu-delta heavy-chain region.

F. Blattner, J. Richards, P. Tucker, 1983, Nature.

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Adriana I. Iglesias, M. Pirinen, P. Donnelly, 2014, Nature Communications.

Shigeo Yoshida, Anand Swaroop, Gonçalo R Abecasis, 2004, American journal of human genetics.

G. Abecasis, P. Sieving, S. Jacobson, 2004 .

Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11.

M. Boehnke, H. Stringham, M. Othman, 1998, American journal of human genetics.

Gene expression profile of human trabecular meshwork cells in response to long-term dexamethasone exposure.

M. Othman, D. Vollrath, S. Moroi, 2006, Molecular vision.

Molecular testing for hereditary retinal disease as part of clinical care.

P. Sieving, J. Heckenlively, K. Branham, 2007, Archives of ophthalmology.

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change

P. Sieving, G. Fishman, B. Yashar, 1999, Human mutation.

Refined genetic mapping of juvenile X-linked retinoschisis.

K. Lunetta, P. Sieving, M. Boehnke, 1995, Human heredity.

Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa.

P. Sieving, M. Boehnke, J. Richards, 1991, Ophthalmology.

Analysis and comparison of the mouse and human immunoglobulin heavy chain JH-Cmu-Cdelta locus.

F. Blattner, B. Koop, J. Wells, 1996, Molecular Phylogenetics and Evolution.

Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.

Michael G. Anderson, J. Haines, M. Pericak-Vance, 2019, JAMA.

A common variant near TGFBR3 is associated with primary open angle glaucoma

S. R. Krishnadas, J. Haines, Y. Teo, 2015, Human molecular genetics.

Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample

Yeunjoo E. Song, J. Haines, M. Pericak-Vance, 2017, Menopause.

Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses

Weinreb, Yutao, J. Haines, 2016, Investigative ophthalmology & visual science.

Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma

Margaret A. Pericak-Vance, Robert N. Weinreb, Peter Kraft, 2014, Human Genetics.

The relationship between statin use and open-angle glaucoma.

B. Nan, J. Stein, P. Newman-Casey, 2012, Ophthalmology.

Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry.

L. Pasquale, R. Ritch, M. Hauser, 2013, Investigative ophthalmology & visual science.

Genome-wide association study and meta-analysis of intraocular pressure

G. Abecasis, B. Yaspan, J. Haines, 2013, Human Genetics.

Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.

Gadi Wollstein, Joel S Schuman, Jun Li, 2012, Investigative ophthalmology & visual science.

GALC Deletions Increase the Risk of Primary Open-Angle Glaucoma: The Role of Mendelian Variants in Complex Disease

Christopher A. Girkin, Donald L. Budenz, Julia E. Richards, 2011, PloS one.

Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma

B. Yaspan, J. Haines, M. Pericak-Vance, 2014, Eye.

Progress toward personalized medicine for glaucoma

S. Zöllner, S. Moroi, David M Reed, 2009, Expert review of ophthalmology.

Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium.

D. Thompson, T. Yang-Feng, J. Richards, 1995, Human molecular genetics.

Association of HK2 and NCK2 with Normal Tension Glaucoma in the Japanese Population

H. Ideta, T. Nakazawa, K. Nishida, 2013, PloS one.

Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population

R. Fujita, J. Richards, V. Mendoza-Reinoso, 2012, Molecular vision.

Nail-patella syndrome and its association with glaucoma: a review of eight families

D. Mackey, J. Rait, D. Vollrath, 2006, British Journal of Ophthalmology.

Differences in rates of glaucoma among Asian Americans and other racial groups, and among various Asian ethnic groups.

Denise S. Kim, B. Nan, J. Stein, 2011, Ophthalmology.

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

P. Sieving, S. Jacobson, B. Lorenz, 2000, Investigative ophthalmology & visual science.

How Chromosomes Move

R. Hawley, J. Richards, 2005 .

Evaluation of the beta2-adrenergic receptor gene as a candidate glaucoma gene in 2 ancestral populations.

S. Moroi, David M Reed, D. Musch, 2007, Archives of ophthalmology.

Congenital cataracts: de novo gene conversion event in CRYBB2

M. Boehnke, R. Ritch, J. Liebmann, 2014, Molecular vision.

Variation in optineurin (OPTN) allele frequencies between and within populations

W. Bromley, P. Lichter, S. Moroi, 2007, Molecular vision.

Ordered subset analysis supports a glaucoma locus at GLC1I on chromosome 15 in families with earlier adult age at diagnosis.

Michael Boehnke, Nobuo Fuse, Sayoko E Moroi, 2006, Experimental eye research.

Juvenile glaucoma linked to the GLC1A gene on chromosome 1q in a Panamanian family.

M. Boehnke, H. Stringham, P. Lichter, 1997, American journal of ophthalmology.

Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma.

M. Boehnke, E. Hauser, P. Lichter, 1996, Ophthalmology.

Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q.

M. Boehnke, H. Stringham, P. Lichter, 1996, Ophthalmology.

Concordance of aqueous humor flow in the morning and at night in normal humans.

S. Moroi, David M Reed, D. Musch, 2006, Investigative ophthalmology & visual science.

Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree.

M. Boehnke, R. Ritch, H. Stringham, 1998, Ophthalmology.

C. Ferreira, S. Moroi, Marcus Y. Chen, 2021, Journal of Medical Genetics.

THE COMPLEX DISEASE MODEL OF GLAUCOMA

S. Moroi, J. Richards, 2008 .

AUTOSOMAL DOMINANT NANOPHTHALMOS MAPS TO CHROMOSOME 11

M. Boehnke, H. Stringham, M. Othman, 1999 .

The Human Genome: A User's Guide

R. Hawley, J. Richards, 1998 .

The Multiple-Hit Hypothesis

R. Hawley, J. Richards, 2005 .

Septuagenarian's Phenotype Leads to Ascertainment of Familial MYOC Gene Mutation

P. Lichter, J. Richards, C. Downs, 2003, Journal of glaucoma.

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.

D. Mackey, A. Hewitt, J. Craig, 2007, Archives of ophthalmology.

Erratum: Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome (Human Molecular Genetics (1998) 7 (1091-1098))

P. Lichter, D. Vollrath, K. Scott, 1998 .

X-linked juvenile retinoschisis: localization between (DXS1195, DXS418) and AFM291wf5 on a single YAC.

P. Sieving, J. Richards, E. Bingham, 1996, Human heredity.

Genome-wide association study and meta-analysis of intraocular pressure

G. Abecasis, B. Yaspan, J. Haines, 2013, Human Genetics.

Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma

B. Yaspan, J. Haines, M. Pericak-Vance, 2014, PLoS genetics.

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Simon C. Potter, Adriana I. Iglesias, M. Pirinen, 2018, Nature Communications.

Recurrent Myocilin Asn480Lys Glaucoma Causative Mutation Arises De Novo in a Family of Andean Descent

R. Fujita, J. Richards, A. Estrada-Cuzcano, 2007, Journal of glaucoma.