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List of works by John H. Fingert

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

scientific article

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

scientific article

A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci

scientific article

A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.

scientific article

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

scientific article (publication date: 26 January 2017)

Analysis of ASB10 variants in open angle glaucoma

scientific article

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

scientific article published in May 1999

Animal models of exfoliation syndrome, now and future

scientific article published on October 2014

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

scientific article published on September 2016

Assessment of a three-generation pedigree with Fuchs endothelial corneal dystrophy with anticipation for expansion of the triplet repeat in the TCF4 gene.

scientific article published on 7 April 2017

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

scientific article published on 25 October 2013

Association of Genetic Variants with Primary Open-Angle Glaucoma among Individuals with African Ancestry

scientific article published on 01 November 2019

Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.

scientific article

Automated Axon Counting in Rodent Optic Nerve Sections with AxonJ.

scientific article published on 26 May 2016

Automated quantification of inherited phenotypes from color images: a twin study of the variability of optic nerve head shape

scientific article

Automated segmentation of the optic disc from stereo color photographs using physiologically plausible features.

scientific article published on April 2007

CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration.

scientific article published on 22 March 2018

CRISPR-Cas9-Based Genome Editing of Human Induced Pluripotent Stem Cells

scientific article published on 28 February 2018

CRISPR-Cas9-based treatment of myocilin-associated glaucoma

scientific article

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration

scientific article

Characterization and Comparison of the Human and MouseGLC1A Glaucoma Genes ⬇️

scientific article published on April 1, 1998

Circumferential iris transillumination defects in exfoliation syndrome

scientific article

Clinical and genetic characterization of a large primary open angle glaucoma pedigree

scientific article published on 29 June 2016

Clinical and molecular characterization of a family affected with X-linked ocular albinism(OA1)

scientific article published on 01 December 1997

Clinical correlates to the goniodysgensis among juvenile-onset primary open-angle glaucoma patients.

scientific article

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

scientific article published in April 1998

Complement component C5a activates ICAM-1 expression on human choroidal endothelial cells

scientific article

Confirmation of TBK1 duplication in normal tension glaucoma

scientific article published on 2 January 2012

Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United States

scientific article published on 24 September 2012

Copy number variations and primary open-angle glaucoma

scientific article published on 9 September 2011

Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma

scientific article

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma

scientific article

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

scientific article

Enhanced depth imaging optical coherence tomography of congenital cavitary optic disc anomaly (CODA)

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

scientific article published on 12 July 2013

Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His

article

Evaluation of sFLT1 protein levels in human eyes with the FLT1 rs9943922 polymorphism

scientific article

Evaluation of variants in the selectin genes in age-related macular degeneration

scientific article

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

article

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

scientific article

Exfoliation syndrome: assembling the puzzle pieces

scientific article published on 9 December 2015

Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping

scientific article published on 23 March 2007

Familial cavitary optic disk anomalies: identification of a novel genetic locus.

scientific article published on 19 March 2007

Familial non-arteritic anterior ischemic optic neuropathy

scientific article published on 28 June 2008

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

scientific article

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

scientific article published on 30 August 2017

Genetics and genetic testing for glaucoma

scientific article published on 25 November 2016

Genome-wide analysis of copy number variants in age-related macular degeneration

scientific article published on 28 October 2010

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

scientific article published on 11 January 2016

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

scientific article

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.

scientific article published on 30 March 2017

Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients ⬇️

scientific article

Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study

scientific article published on October 2016

Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.

scientific article

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

scientific article

Heritable features of the optic disc: a novel twin method for determining genetic significance

scientific article published in June 2007

Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly

scientific article published on March 2015

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

scientific article

Identification of a gene that causes primary open angle glaucoma.

scientific article

Identification of proteins that interact with TANK binding kinase 1 and testing for mutations associated with glaucoma.

scientific article published on 03 January 2013

Increased expression of serum amyloid A in glaucoma and its effect on intraocular pressure

scientific article published on 25 January 2008

Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure

scientific article

LOXL1 Mutations Are Associated with Exfoliation Syndrome in Patients from the Midwestern United States

article

Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus

scientific article published in April 2003

Lyst mutation in mice recapitulates iris defects of human exfoliation syndrome

scientific article

Microarray analysis of iris gene expression in mice with mutations influencing pigmentation

scientific article

Mitochondrial Variant G4132A is Associated with Familial Non-Arteritic Anterior Ischemic Optic Neuropathy in One Large Pedigree

scientific article published on 01 March 2007

Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family

scientific article

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

scientific article published in January 2007

Myocilin glaucoma

scientific article

Nanophthalmos patient with a THR518MET mutation in MYRF, a case report

scientific article published on 01 October 2020

No Association Between Variations in the WDR36 Gene and Primary Open-Angle Glaucoma

article

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor

scientific article

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

scientific article

Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.

scientific article published in June 2010

Optical Coherence Tomography Analysis Based Prediction of Humphrey 24-2 Visual Field Thresholds in Patients With Glaucoma.

scientific article published on August 2017

Primary congenital and developmental glaucomas

scientific article

Primary open-angle glaucoma

article

Primary open-angle glaucoma genes.

scientific article published on May 2011

Reduced frequency of known mutations in a cohort of LHON patients from India.

scientific article

Retinal ganglion cell death in glaucoma: mechanisms and neuroprotective strategies

scientific article

SQSTM1 Mutations and Glaucoma.

scientific article

Statistical tests for detecting rare variants using variance-stabilising transformations

scientific article

Stereo Photo Measured ONH Shape Predicts Development of POAG in Subjects With Ocular Hypertension

scientific article published in July 2015

TBK1 and flanking genes in human retina.

scientific article published on 20 February 2013

TBK1 gene duplication and normal-tension glaucoma.

scientific article

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

scientific article published in February 2018

The C677T variant in the methylenetetrahydrofolate reductase gene is not associated with disease in cohorts of pseudoexfoliation glaucoma and primary open-angle glaucoma patients from Iowa.

scientific article

The Utility of Diaton Tonometer Measurements in Patients With Ocular Hypertension, Glaucoma, and Glaucoma Tube Shunts: A Preliminary Study for its Potential Use in Keratoprosthesis Patients

scientific article

The genetic aspects of adult-onset glaucoma: a perspective from the Greater Toronto area

scientific article published in February 2000

The optic nerve head in myocilin glaucoma

scientific article published on January 2007

Thin central corneal thickness and early-onset glaucoma in lacrimo-auriculo-dento-digital syndrome

scientific article published on June 2014

Transgenic TBK1 mice have features of normal tension glaucoma

scientific article published on 26 December 2016

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

scientific article

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