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Cornea January 2021

Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion

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Timothy T. Xu; Yi-Ju Li; Natalie A. Afshari; Ross A. Aleff; Tommy A. Rinkoski; Sanjay V. Patel; Leo J. Maguire; Albert O. Edwards; William L. Brown; Michael P. Fautsch; Eric D. Wieben; Keith H. Baratz

Invest. Ophthalmol. Vis. Sci.. 2021; 62(1):17. doi: https://doi.org/10.1167/iovs.62.1.17

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Expression and Familial Transmission of Fuchs’ Endothelial Corneal Dystrophy (FECD) with and without TCF4 Trinucelotide Repeat (TNR) Expansion

Timothy T. Xu; Yi-Ju Li; Natalie A Afshari; Ross A. Aleff; Tommy A Rinkoski; Sanjay V Patel; Leo J Maguire; Michael P Fautsch; Eric Wieben; Keith H Baratz

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1187. doi:

ARVO Annual Meeting Abstract July 2018

Smoking and Annual US Regional Rate of Fuchs Endothelial Dystrophy Related Endothelial Keratoplasty

Rebecca Lian; Robert P. Igo; Ruti Sella; Yi-Ju Li; Sudha K Iyengar; Natalie A. Afshari

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1360. doi:

Cornea July 2014

Mitochondrial Polymorphism A10398G and Haplogroup I Are Associated With Fuchs' Endothelial Corneal Dystrophy

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Yi-Ju Li; Mollie A. Minear; Xuejun Qin; Jacqueline Rimmler; Michael A. Hauser; R. Rand Allingham; Robert P. Igo; Jonathan H. Lass; Sudha K. Iyengar; Gordon K. Klintworth; Natalie A. Afshari; Simon G. Gregory
TAGS: dna, mitochondrial, endothelium, hereditary corneal dystrophy, mitochondria, polymorphism, alleles, genetics, smoking, single nucleotide polymorphism, genome-wide association study
Invest. Ophthalmol. Vis. Sci.. 2014; 55(7):4577-4584. doi: https://doi.org/10.1167/iovs.13-13517

ARVO Annual Meeting Abstract April 2014

Common variants in TCF4 and three novel genes increase susceptibility to Fuchs Dystrophy

Sudha K Iyengar; Yi-Ju Li; Robert P Igo; Kathryn P Burdon; John H Fingert; John Gottsch; Gordon K Klintworth; Jonathan H Lass; Natalie A Afshari; FECD Genetics Consortium

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):4070. doi:

ARVO Annual Meeting Abstract April 2014

Effects of Corneal Edema on Tonometry Measurements and Corneal Biomechanical Properties as Evaluated by Inflation Testing and Uniaxial Rheometry

Hugh J Morris; Yi Juin Liew; Benjamin Cruz Perez; Xueliang Pan; Paul A Weber; Jun Liu

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3728. doi:

ARVO Annual Meeting Abstract June 2013

An Investigation of Mitochondrial Haplogroups in Fuchs Endothelial Corneal Dystrophy

Yi-Ju Li; Mollie Minear; Jacqueline Rimmler; Elmer Balajonda; Michael Hauser; R Rand Allingham; Gordon Klintworth; Simon Gregory; Natalie Afshari

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):4725. doi:

ARVO Annual Meeting Abstract June 2013

A Family-based Investigation of the Role of TCF4 Trinucleotide Repeat Expansion in Fuchs Endothelial Corneal Dystrophy (FECD)

Keith Baratz; Ross Aleff; Yi-Ju Li; Malinda Butz; Simon Gregory; Gordon Klintworth; W. Edward Highsmith; Natalie Afshari; Eric Wieben

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):4560. doi:

Genetics March 2013

Association Mapping of the High-Grade Myopia MYP3 Locus Reveals Novel Candidates UHRF1BP1L , PTPRR , and PPFIA2

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Felicia Hawthorne; Sheng Feng; Ravikanth Metlapally; Yi-Ju Li; Khanh-Nhat Tran-Viet; Jeremy A. Guggenheim; Francois Malecaze; Patrick Calvas; Thomas Rosenberg; David A. Mackey; Cristina Venturini; Pirro G. Hysi; Christopher J. Hammond; Terri L. Young
TAGS: cohort studies, genes, myopia, single nucleotide polymorphism, body tissue, candidate disease gene, adult, genome, fetus
Invest. Ophthalmol. Vis. Sci.. 2013; 54(3):2076-2086. doi: https://doi.org/10.1167/iovs.12-11102

Includes: Supplemental Content

ARVO Annual Meeting Abstract March 2012

Genetic screen of African-Americans with Fuchs endothelial corneal dystrophy

Natalie A. Afshari; Mollie A. Minear; Jacqueline Rimmler; Elmer Balajonda; Shera Watson; Michael A. Hauser; R R. Allingham; Gordon K. Klintworth; Yi-Ju Li; Simon G. Gregory

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):5987. doi:

ARVO Annual Meeting Abstract April 2011

Heritable High-grade Myopia: Fine-mapping Of The High-grade Myopia 3 Locus

Felicia Hawthorne; Dianna Abbott; Khanh-Nhat Tran Viet; Ravikanth Metlapally; Janeen Morgan; Yi-Ju Li; Terri L. Young

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):3294. doi:

ARVO Annual Meeting Abstract April 2011

Novel Genetic Mapping in Wagner Syndrome

Terri L. Young; Khanh -Nhat Tran Viet; Diana Abbott; Ravikanth Metlapally; Erica Burner; Yi-Ju Li; Charles Johnson; Max R. Johnson

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):71. doi:

ARVO Annual Meeting Abstract April 2011

Replication Of Association And Linkage To The FCD2/TCF4 Locus On Chromosome 18 In Fuchs Endothelial Corneal Dystrophy

Mollie A. Minear; Yi-Ju Li; Jacqueline Rimmler; R. R. Allingham; S. A. Riazuddin; Nicholas Katsanis; John D. Gottsch; Simon G. Gregory; Gordon K. Klintworth; Natalie A. Afshari

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):1087. doi:

Clinical and Epidemiologic Research September 2010

Genetic Association of Insulin-like Growth Factor-1 Polymorphisms with High-Grade Myopia in an International Family Cohort

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Ravikanth Metlapally; Chang-Seok Ki; Yi-Ju Li; Khanh-Nhat Tran-Viet; Diana Abbott; Francois Malecaze; Patrick Calvas; David A. Mackey; Thomas Rosenberg; Sandrine Paget; Jeremy A. Guggenheim; Terri L. Young
TAGS: cohort studies, family, genetics, insulin-like growth factor i, myopia, polymorphism
Invest. Ophthalmol. Vis. Sci.. 2010; 51(9):4476-4479. doi: https://doi.org/10.1167/iovs.09-4912

Clinical and Epidemiologic Research January 2010

Association of the Lumican Gene Functional 3′-UTR Polymorphism with High Myopia

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Hui-Ju Lin; Yung-Jen Kung; Ying-Ju Lin; Jim J. C. Sheu; Bing-Hung Chen; Yu-Ching Lan; Chih-Ho Lai; Yu-An Hsu; Lei Wan; Fuu Jen Tsai
TAGS: genes, myopia, polymorphism, single nucleotide polymorphism, genotype
Invest. Ophthalmol. Vis. Sci.. 2010; 51(1):96-102. doi: https://doi.org/10.1167/iovs.09-3612

Clinical and Epidemiologic Research September 2009

COL1A1 and COL2A1 Genes and Myopia Susceptibility: Evidence of Association and Suggestive Linkage to the COL2A1 Locus

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Ravikanth Metlapally; Yi-Ju Li; Khanh-Nhat Tran-Viet; Diana Abbott; Gregory R. Czaja; Francois Malecaze; Patrick Calvas; David Mackey; Thomas Rosenberg; Sandrine Paget; Tetyana Zayats; Michael J. Owen; Jeremy A. Guggenheim; Terri L. Young
TAGS: disease susceptibility, genes, myopia
Invest. Ophthalmol. Vis. Sci.. 2009; 50(9):4080-4086. doi: https://doi.org/10.1167/iovs.08-3346

Includes: Supplemental Content

Clinical and Epidemiologic Research July 2009

An International Collaborative Family-Based Whole-Genome Linkage Scan for High-Grade Myopia

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Yi-Ju Li; Jeremy A. Guggenheim; Anuradha Bulusu; Ravikanth Metlapally; Diana Abbott; Francois Malecaze; Patrick Calvas; Thomas Rosenberg; Sandrine Paget; Rosalind C. Creer; George Kirov; Michael J. Owen; Bei Zhao; Tristan White; David A. Mackey; Terri L. Young
TAGS: family, genome, myopia, phenotype, single nucleotide polymorphism
Invest. Ophthalmol. Vis. Sci.. 2009; 50(7):3116-3127. doi: https://doi.org/10.1167/iovs.08-2781

Includes: Supplemental Content

Biochemistry and Molecular Biology April 2009

Evaluation of the X-Linked High-Grade Myopia Locus (MYP1) with Cone Dysfunction and Color Vision Deficiencies

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Ravikanth Metlapally; Michel Michaelides; Anuradha Bulusu; Yi-Ju Li; Marianne Schwartz; Thomas Rosenberg; David M. Hunt; Anthony T. Moore; Stephan Züchner; Catherine Bowes Rickman; Terri L. Young
TAGS: color vision defect, copy number polymorphism, dna, genetic pedigree, myopia, pathophysiology, polymerase chain reaction, retinal cone, screening, x-linked inheritance
Invest. Ophthalmol. Vis. Sci.. 2009; 50(4):1552-1558. doi: https://doi.org/10.1167/iovs.08-2455

Includes: Supplemental Content

Cornea March 2009

Genome-wide Linkage Scan in Fuchs Endothelial Corneal Dystrophy

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Natalie A. Afshari; Yi-Ju Li; Margaret A. Pericak-Vance; Simon Gregory; Gordon K. Klintworth
TAGS: endothelium, family, genome, hereditary corneal dystrophy, chromosomes, single nucleotide polymorphism, genetic linkage analysis, mutation
Invest. Ophthalmol. Vis. Sci.. 2009; 50(3):1093-1097. doi: https://doi.org/10.1167/iovs.08-1839

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Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion

Expression and Familial Transmission of Fuchs’ Endothelial Corneal Dystrophy (FECD) with and without TCF4 Trinucelotide Repeat (TNR) Expansion

Smoking and Annual US Regional Rate of Fuchs Endothelial Dystrophy Related Endothelial Keratoplasty

Mitochondrial Polymorphism A10398G and Haplogroup I Are Associated With Fuchs' Endothelial Corneal Dystrophy

Common variants in TCF4 and three novel genes increase susceptibility to Fuchs Dystrophy

Effects of Corneal Edema on Tonometry Measurements and Corneal Biomechanical Properties as Evaluated by Inflation Testing and Uniaxial Rheometry

An Investigation of Mitochondrial Haplogroups in Fuchs Endothelial Corneal Dystrophy

A Family-based Investigation of the Role of TCF4 Trinucleotide Repeat Expansion in Fuchs Endothelial Corneal Dystrophy (FECD)

Association Mapping of the High-Grade Myopia MYP3 Locus Reveals Novel Candidates UHRF1BP1L , PTPRR , and PPFIA2

Genetic screen of African-Americans with Fuchs endothelial corneal dystrophy

Heritable High-grade Myopia: Fine-mapping Of The High-grade Myopia 3 Locus

Novel Genetic Mapping in Wagner Syndrome

Replication Of Association And Linkage To The FCD2/TCF4 Locus On Chromosome 18 In Fuchs Endothelial Corneal Dystrophy

Genetic Association of Insulin-like Growth Factor-1 Polymorphisms with High-Grade Myopia in an International Family Cohort

Association of the Lumican Gene Functional 3′-UTR Polymorphism with High Myopia

COL1A1 and COL2A1 Genes and Myopia Susceptibility: Evidence of Association and Suggestive Linkage to the COL2A1 Locus

An International Collaborative Family-Based Whole-Genome Linkage Scan for High-Grade Myopia

Evaluation of the X-Linked High-Grade Myopia Locus (MYP1) with Cone Dysfunction and Color Vision Deficiencies

Genome-wide Linkage Scan in Fuchs Endothelial Corneal Dystrophy

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