Literature DB >> 18332328

Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE).

Brian P Brooks, Ian M Macdonald, Santa J Tumminia, Nizar Smaoui, Delphine Blain, Ajaina A Nezhuvingal, Paul A Sieving.   

Abstract

Mesh：

Year:  2008        PMID： 18332328      PMCID： PMC2821692          DOI： 10.1001/archopht.126.3.424

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  13 in total

1.  Welcome to the genomic era.

Authors:  Alan E Guttmacher; Francis S Collins
Journal:  N Engl J Med       Date:  2003-09-04       Impact factor: 91.245

2.  As genetic tests move into the mainstream, challenges await for doctors and patients.

Authors:  Sarah L Zielinski
Journal:  J Natl Cancer Inst       Date:  2005-03-02       Impact factor: 13.506

Review 3.  Unraveling a complex genetic disease: age-related macular degeneration.

Authors:  Matt Chamberlain; Paul Baird; Mohamed Dirani; Robyn Guymer
Journal:  Surv Ophthalmol       Date:  2006 Nov-Dec       Impact factor: 6.048

Review 4.  Perspective on genes and mutations causing retinitis pigmentosa.

Authors:  Stephen P Daiger; Sara J Bowne; Lori S Sullivan
Journal:  Arch Ophthalmol       Date:  2007-02

Review 5.  Molecular diagnosis and genetic counseling in ophthalmology.

Authors:  Delphine Blain; Brian P Brooks
Journal:  Arch Ophthalmol       Date:  2007-02

Review 6.  Genetic ophthalmology and the era of clinical care.

Authors:  Paul A Sieving; Francis S Collins
Journal:  JAMA       Date:  2007-02-21       Impact factor: 56.272

7.  Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

Authors:  Edwin M Stone
Journal:  Am J Ophthalmol       Date:  2007-10-26       Impact factor: 5.258

Review 8.  Genetic etiologies of glaucoma.

Authors:  Janey L Wiggs
Journal:  Arch Ophthalmol       Date:  2007-01

9.  Causes and prevalence of visual impairment among adults in the United States.

Authors:  Nathan Congdon; Benita O'Colmain; Caroline C W Klaver; Ronald Klein; Beatriz Muñoz; David S Friedman; John Kempen; Hugh R Taylor; Paul Mitchell
Journal:  Arch Ophthalmol       Date:  2004-04

10.  Perspectives on human genetic variation from the HapMap Project.

Authors:  Gil McVean; Chris C A Spencer; Raphaelle Chaix
Journal:  PLoS Genet       Date:  2005-10       Impact factor: 5.917
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  9 in total

1.  Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

Authors:  Lori S Sullivan; Sara J Bowne; Melissa J Reeves; Delphine Blain; Kerry Goetz; Vida Ndifor; Sally Vitez; Xinjing Wang; Santa J Tumminia; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-09-19       Impact factor: 4.799

2.  High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

Authors:  Jin Song; Nizar Smaoui; Radha Ayyagari; David Stiles; Sonia Benhamed; Ian M MacDonald; Stephen P Daiger; Santa J Tumminia; Fielding Hejtmancik; Xinjing Wang
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-11-25       Impact factor: 4.799

3.  Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.

Authors:  Chelsea Bender; Elizabeth Geena Woo; Bin Guan; Ehsan Ullah; Eric Feng; Amy Turriff; Santa J Tumminia; Paul A Sieving; Catherine A Cukras; Robert B Hufnagel
Journal:  Genes (Basel)       Date:  2022-04-12       Impact factor: 4.141

4.  Cone Structure Persists Beyond Margins of Short-Wavelength Autofluorescence in Choroideremia.

Authors:  Katharina G Foote; Nicholas Rinella; Janette Tang; Nicolas Bensaid; Hao Zhou; Qinqin Zhang; Ruikang K Wang; Travis C Porco; Austin Roorda; Jacque L Duncan
Journal:  Invest Ophthalmol Vis Sci       Date:  2019-11-01       Impact factor: 4.799

5.  Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.

Authors:  Kerry E Goetz; Melissa J Reeves; Shaina Gagadam; Delphine Blain; Chelsea Bender; Cara Lwin; Amelia Naik; Santa J Tumminia; Robert B Hufnagel
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-09-07       Impact factor: 3.359

6.  Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.

Authors:  Melissa J Reeves; Kerry E Goetz; Bin Guan; Ehsan Ullah; Delphine Blain; Wadih M Zein; Santa J Tumminia; Robert B Hufnagel
Journal:  Hum Mutat       Date:  2020-07-05       Impact factor: 4.700

7.  Improvement in vision: a new goal for treatment of hereditary retinal degenerations.

Authors:  Samuel G Jacobson; Artur V Cideciyan; Gustavo D Aguirre; Alejandro J Roman; Alexander Sumaroka; William W Hauswirth; Krzysztof Palczewski
Journal:  Expert Opin Orphan Drugs       Date:  2015-05-04       Impact factor: 0.694

8.  The molecular basis of retinal dystrophies in pakistan.

Authors:  Muhammad Imran Khan; Maleeha Azam; Muhammad Ajmal; Rob W J Collin; Anneke I den Hollander; Frans P M Cremers; Raheel Qamar
Journal:  Genes (Basel)       Date:  2014-03-11       Impact factor: 4.096

Review 9.  Next-Generation Technologies and Strategies for the Management of Retinoblastoma.

Authors:  Harini V Gudiseva; Jesse L Berry; Ashley Polski; Santa J Tummina; Joan M O'Brien
Journal:  Genes (Basel)       Date:  2019-12-11       Impact factor: 4.096
  9 in total

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