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Genetics June 2022

Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract

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Terri L. Young; Kristina N. Whisenhunt; Sarah M. LaMartina; Alex W. Hewitt; David A. Mackey; Stuart W. Tompson
TAGS: cataract, childhood, cortical cataract, introns, pediatrics, shh gene, enhancer of transcription, genes, genetic pedigree
Invest. Ophthalmol. Vis. Sci.. 2022; 63(6):25. doi: https://doi.org/10.1167/iovs.63.6.25

ARVO Annual Meeting Abstract June 2022

PIEZO1 and PIEZO2 pathogenic variants identified in primary congenital glaucoma

Terri L Young; Kristina Whisenhunt; Sean Martin; Stuart Tompson

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1127. doi:

Genetics October 2021

Genetic Variants Associated With Human Eye Size Are Distinct From Those Conferring Susceptibility to Myopia

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Denis Plotnikov; Jiangtian Cui; Rosie Clark; Juho Wedenoja; Olavi Pärssinen; J. Willem L. Tideman; Jost B. Jonas; Yaxing Wang; Igor Rudan; Terri L. Young; David A. Mackey; Louise Terry; Cathy Williams; Jeremy A. Guggenheim; for the UK Biobank Eye and Vision Consortium and the CREAM Consortium
TAGS: disease susceptibility, eye, genetics, genome-wide association study, myopia, refractive errors, cornea, biobanks
Invest. Ophthalmol. Vis. Sci.. 2021; 62(13):24. doi: https://doi.org/10.1167/iovs.62.13.24

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Intronic variant in sonic hedgehog associated with autosomal dominant pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy, and primary open-angle glaucoma

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

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):5. doi:

ARVO Annual Meeting Abstract June 2021

Missense mutations in LRP2 as causal for autosomal dominant primary congenital glaucoma

Terri L Young; Kristina N. Whisenhunt; Sarah LaMartina; Sean Martin; Vachiranee Limviphuvadh; Sebastian Maurer-Stroh; Stuart W. Tompson

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1500. doi:

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

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

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:

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Sonic Hedgehog Intron Variant Associated With an Unusual Pediatric Cortical Cataract

PIEZO1 and PIEZO2 pathogenic variants identified in primary congenital glaucoma

Genetic Variants Associated With Human Eye Size Are Distinct From Those Conferring Susceptibility to Myopia

Intronic variant in sonic hedgehog associated with autosomal dominant pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy, and primary open-angle glaucoma

Missense mutations in LRP2 as causal for autosomal dominant primary congenital glaucoma

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

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

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

Mutations in a new gene cause glaucoma with variable onset

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