Literature DB >> 23949187

Genetic testing for inherited eye disease: who benefits?

Janey L Wiggs1, Eric A Pierce.   

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Year:  2013        PMID： 23949187     DOI： 10.1001/jamaophthalmol.2013.4509

Source DB:  PubMed          Journal:  JAMA Ophthalmol        ISSN： 2168-6165            Impact factor:   7.389


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  14 in total

1.  Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).

Authors:  Janey L Wiggs; Anne M Langgurth; Keri F Allen
Journal:  Trans Am Ophthalmol Soc       Date:  2014-07

Review 2.  Paradigm Shifts in Ophthalmic Diagnostics.

Authors:  J Sebag; Alfredo A Sadun; Eric A Pierce
Journal:  Trans Am Ophthalmol Soc       Date:  2016-08

3.  A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.

Authors:  Hema L Ramkumar; Harini V Gudiseva; Kameron T Kishaba; John J Suk; Rohan Verma; Keerti Tadimeti; John A Thorson; Radha Ayyagari
Journal:  Genet Test Mol Biomarkers       Date:  2016-12-22

Review 4.  Steroid-induced ocular hypertension/glaucoma: Focus on pharmacogenomics and implications for precision medicine.

Authors:  M Elizabeth Fini; Stephen G Schwartz; Xiaoyi Gao; Shinwu Jeong; Nitin Patel; Tatsuo Itakura; Marianne O Price; Francis W Price; Rohit Varma; W Daniel Stamer
Journal:  Prog Retin Eye Res       Date:  2016-09-22       Impact factor: 21.198

Review 5.  Clinical implications of recent advances in primary open-angle glaucoma genetics.

Authors:  Hélène Choquet; Janey L Wiggs; Anthony P Khawaja
Journal:  Eye (Lond)       Date:  2019-10-23       Impact factor: 3.775

Review 6.  Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.

Authors:  Kristy Lee; Seema Garg
Journal:  Genet Med       Date:  2015-03-19       Impact factor: 8.822

7.  Mapping molecular differences and extracellular matrix gene expression in segmental outflow pathways of the human ocular trabecular meshwork.

Authors:  Janice A Vranka; John M Bradley; Yong-Feng Yang; Kate E Keller; Ted S Acott
Journal:  PLoS One       Date:  2015-03-31       Impact factor: 3.240

8.  Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Authors:  Mark B Consugar; Daniel Navarro-Gomez; Emily M Place; Kinga M Bujakowska; Maria E Sousa; Zoë D Fonseca-Kelly; Daniel G Taub; Maria Janessian; Dan Yi Wang; Elizabeth D Au; Katherine B Sims; David A Sweetser; Anne B Fulton; Qin Liu; Janey L Wiggs; Xiaowu Gai; Eric A Pierce
Journal:  Genet Med       Date:  2014-11-20       Impact factor: 8.822

9.  A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist's Perspective.

Authors:  Hande Taylan Şekeroğlu; Gülen Eda Utine; Mehmet Alikaşifoğlu
Journal:  Turk J Ophthalmol       Date:  2016-12-01

Review 10.  Personalized ophthalmology.

Authors:  L F Porter; G C M Black
Journal:  Clin Genet       Date:  2014-07       Impact factor: 4.438
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