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Genetics October 2020

SVEP1 as a Genetic Modifier of TEK -Related Primary Congenital Glaucoma

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Terri L. Young; Kristina N. Whisenhunt; Jing Jin; Sarah M. LaMartina; Sean M. Martin; Tomokazu Souma; Vachiranee Limviphuvadh; Fatemeh Suri; Emmanuelle Souzeau; Xue Zhang; Yongwook Dan; Evie Anagnos; Susana Carmona; Nicole M. Jody; Nickie Stangel; Emily C. Higuchi; Samuel J. Huang; Owen M. Siggs; Maria José Simões; Brendan M. Lawson; Jacob S. Martin; Elahe Elahi; Mehrnaz Narooie-Nejad; Behzad Fallahi Motlagh; Susan E. Quaggin; Heather D. Potter; Eduardo D. Silva; Jamie E. Craig; Conceição Egas; Reza Maroofian; Sebastian Maurer-Stroh; Yasmin S. Bradfield; Stuart W. Tompson
TAGS: family, genetics, glaucoma, glaucoma, congenital, mice, pathology, eye, body tissue, alleles, whole exome sequencing
Invest. Ophthalmol. Vis. Sci.. 2020; 61(12):6. doi: https://doi.org/10.1167/iovs.61.12.6

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Primary congenital glaucoma-associated truncation of GJA1 modeled in mice

Sean Michael Martin; Kristina Whisenhunt; Stuart William Tompson; Pawan Shahi; Sarah M LaMartina; Andrea Moyer; Bikash R Pattnaik; Leandro Teixeira; Terri L Young

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1257. doi:

ARVO Annual Meeting Abstract June 2020

SVEP1 as a genetic modifier of TEK -related primary congenital glaucoma

Stuart William Tompson; Kristina Whisenhunt; Sarah M LaMartina; Sean M Martin; Tomokazu Souma; Vachiranee Limviphuvadh; Jing Jin; Nicole M Jody; Samuel J Huang; Brendan M Lawson; Jacob S Martin; Sebastian Maurer-Stroh; Heather D Potter; Yasmin S Bradfield; Terri L Young

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3519. doi:

ARVO Annual Meeting Abstract July 2019

Novel DDX58 Gene Mutation Associated With Childhood Glaucoma

Terri L Young; Kristina Whisenhunt; Yasmin Bradfield; Nickie Stangel; Sarah Lamartina; Stuart Tompson

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2835. doi:

Genetics July 2019

Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma

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Adriana I. Iglesias; Jue Sheng Ong; Anthony P. Khawaja; Puya Gharahkhani; Milly S. Tedja; Virginie J. M. Verhoeven; Pieter W. M. Bonnemaijer; Roger C. W. Wolfs; Terri L. Young; Nomdo M. Jansonius; Jamie E. Craig; Dwight Stambolian; Cornelia M. van Duijn; Stuart MacGregor; Caroline C. W. Klaver; for the International Glaucoma Genetics Consortium (IGGC) and Consortium for Refractive Error and Myopia (CREAM)
TAGS: myopia, open-angle glaucoma, genetics
Invest. Ophthalmol. Vis. Sci.. 2019; 60(8):3142-3149. doi: https://doi.org/10.1167/iovs.18-26231

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Whole-Genome Sequencing Identifies UTR Variants in LRPAP1 in a Large Iranian Family with High Myopia

Terri L Young; Kristina Whisenhunt; Stuart Tompson; Reza Maroofian; Maryam Najafi; Abolfazl Rad

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):701. doi:

ARVO Annual Meeting Abstract June 2017

Epigenetic markers for early-onset myopia in an epigenome-wide association study

Seang-Mei Saw; Cheryl Ngo; Pan Hong; Wei Jie Seow; Stuart W Tompson; Kristina N Whisenhunt; Eranga Nishanthie Vithana; Yap Seng Chong; Fabian Yap; Veluchamy A Barathi; Pirro G Hysi; Terri L Young; Neerja Karnani

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1224. doi:

ARVO Annual Meeting Abstract June 2017

A missense mutation in the intracellular protein kinase domain of TEK causes autosomal dominant PCG and non-ocular features

Kristina N Whisenhunt; Stuart W Tompson; Yasmin S Bradfield; Samuel J Huang; Nickie Stangel; Emily C Higuchi; Burton J Kushner; Terri L Young

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2121. doi:

ARVO Annual Meeting Abstract June 2017

Autosomal dominant locus for pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma identified on chromosome 7q36

Stuart W Tompson; Kristina N Whisenhunt; Alex W Hewitt; David A Mackey; Terri L Young

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2787. doi:

ARVO Annual Meeting Abstract June 2017

Association of ANGPT1 with Primary Open Angle Glaucoma

Jessica Cooke Bailey; Puya Gharahkhani; Stuart W Tompson; Tomokazu Souma; Owen Siggs; Terri L Young; Angelo P Tanna; Louis R Pasquale; Susan E Quaggin; Stuart MacGregor; Jamie E Craig; Jonathan L Haines; Janey L. Wiggs

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3822. doi:

ARVO Annual Meeting Abstract June 2017

Exome Sequence Analysis of 14 High-Grade Myopia Families

Terri L Young; Bethany Kloss; Stuart W Tompson; Kristina N Whisenhunt; Samuel Huang; Krystina Quow; Derek Pavelec; Thomas Rosenberg

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5481. doi:

Genetics April 2017

Exome Sequence Analysis of 14 Families With High Myopia

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Bethany A. Kloss; Stuart W. Tompson; Kristina N. Whisenhunt; Krystina L. Quow; Samuel J. Huang; Derek M. Pavelec; Thomas Rosenberg; Terri L. Young
TAGS: exome, family, myopia, genetic analysis, sequence analysis
Invest. Ophthalmol. Vis. Sci.. 2017; 58(4):1982-1990. doi: https://doi.org/10.1167/iovs.16-20883

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Investigation of the role of ZNF644 in emmetropization and refractive error using zebrafish

Ross F Collery; Terri L Young; Brian Link

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12) doi:

ARVO Annual Meeting Abstract September 2016

Mutations in a new gene cause glaucoma with variable onset

Stuart W. J. Tompson; Tomokazu Souma; Owen M. Siggs; Sebastian Maurer-Stroh; Kristina N. Whisenhunt; Janey L Wiggs; Francesca Pasutto; Jamie E Craig; Susan E. Quaggin; Terri L Young

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):799. doi:

ARVO Annual Meeting Abstract September 2016

Loss of function variants in a new gene increase risk for primary congenital glaucoma with variable expressivity

Terri L Young; Stuart W. J. Tompson; Benjamin R. Thomson; Owen M. Siggs; Vachiranee Limviphuvadh; Kristina N. Whisenhunt; Janey L Wiggs; Jamie E Craig; Susan E. Quaggin; Francesca Pasutto

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):800. doi:

ARVO Annual Meeting Abstract September 2016

Whole Exome Sequencing Identifies a Rare Variant Co-segregating with High Myopia

Bethany A. Kloss; Stuart W. J. Tompson; Kristina Whisenhunt; Samuel J. Huang; Thomas Rosenberg; Terri L Young

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3606. doi:

ARVO Annual Meeting Abstract September 2016

Large-scale microRNA expression profiling identifies retinal miRNA-mRNA signaling pathways underlying form-deprivation myopia in mice

Tatiana V Tkatchenko; Xiaoyan Luo; Andrei V Tkatchenko; Candida Vaz; Vivek M Tanavde; Sebastian Maurer-Stroh; Stefan Zauscher; Pedro Gonzalez; Terri L Young

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):4837. doi:

ARVO Annual Meeting Abstract September 2016

Defects in Angiopoietin-Tie2 signaling lead to dose-dependent glaucoma in mice

Benjamin R Thomson; Isabel Carota; Tomokazu Souma; Krish Kizhatil; Liang Feng; Xiaorong Liu; Simon W John; Terri L Young; Susan E. Quaggin

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12) doi:

ARVO Annual Meeting Abstract September 2016

Gene variant identified for unusual eyelid, eyebrow, and conjunctival syndrome

Kristina N. Whisenhunt; Stuart W. J. Tompson; Krystina Quow; Grace Beggs; Qing Wei; Khanh-Nhat Tran Viet; James A. Katowitz; Femida Kherani; Terri L Young

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6576. doi:

Articles July 2016

Posterior Eye Shape Measurement With Retinal OCT Compared to MRI

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Anthony N. Kuo; Pavan K. Verkicharla; Ryan P. McNabb; Carol Y. Cheung; Saima Hilal; Sina Farsiu; Christopher Chen; Tien Y. Wong; M. Kamran Ikram; Ching Y. Cheng; Terri L. Young; Seang M. Saw; Joseph A. Izatt
TAGS: eye, magnetic resonance imaging
Invest. Ophthalmol. Vis. Sci.. 2016; 57(9):OCT196-OCT203. doi: https://doi.org/10.1167/iovs.15-18886

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SVEP1 as a Genetic Modifier of TEK -Related Primary Congenital Glaucoma

Primary congenital glaucoma-associated truncation of GJA1 modeled in mice

SVEP1 as a genetic modifier of TEK -related primary congenital glaucoma

Novel DDX58 Gene Mutation Associated With Childhood Glaucoma

Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma

Whole-Genome Sequencing Identifies UTR Variants in LRPAP1 in a Large Iranian Family with High Myopia

Epigenetic markers for early-onset myopia in an epigenome-wide association study

A missense mutation in the intracellular protein kinase domain of TEK causes autosomal dominant PCG and non-ocular features

Autosomal dominant locus for pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma identified on chromosome 7q36

Association of ANGPT1 with Primary Open Angle Glaucoma

Exome Sequence Analysis of 14 High-Grade Myopia Families

Exome Sequence Analysis of 14 Families With High Myopia

Investigation of the role of ZNF644 in emmetropization and refractive error using zebrafish

Mutations in a new gene cause glaucoma with variable onset

Loss of function variants in a new gene increase risk for primary congenital glaucoma with variable expressivity

Whole Exome Sequencing Identifies a Rare Variant Co-segregating with High Myopia

Large-scale microRNA expression profiling identifies retinal miRNA-mRNA signaling pathways underlying form-deprivation myopia in mice

Defects in Angiopoietin-Tie2 signaling lead to dose-dependent glaucoma in mice

Gene variant identified for unusual eyelid, eyebrow, and conjunctival syndrome

Posterior Eye Shape Measurement With Retinal OCT Compared to MRI

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