Literature DB >> 34690342

Inherited Retinal Disease Panels-Caveat Emptor-Truly Know Your Inherited Retinal Disease Panel.

Jose S Pulido1,2,3, Rebecca Procopio1, Hiram J Davila1, Nicholas Bello1, Cristy Ku4, Mark E Pennesi4, Paul Yang4, Aaron Nagiel5, Omar A Mahroo6,7,8,9,10, Tomas S Aleman11,12, Ezequiel M Salido13, Margaret Reynolds14.   

Abstract

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Year:  2022        PMID： 34690342      PMCID： PMC8702468          DOI： 10.1097/IAE.0000000000003319

Source DB:  PubMed          Journal:  Retina        ISSN： 0275-004X            Impact factor:   4.256


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  12 in total

1.  Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.

Authors:  Jana Zernant; Winston Lee; Frederick T Collison; Gerald A Fishman; Yuri V Sergeev; Kaspar Schuerch; Janet R Sparrow; Stephen H Tsang; Rando Allikmets
Journal:  J Med Genet       Date:  2017-04-26       Impact factor: 6.318

2.  Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.

Authors:  Cristy A Ku; Sarah Hull; Gavin Arno; Ajoy Vincent; Keren Carss; Robert Kayton; Douglas Weeks; Glenn W Anderson; Ryan Geraets; Camille Parker; David A Pearce; Michel Michaelides; Robert E MacLaren; Anthony G Robson; Graham E Holder; Elise Heon; F Lucy Raymond; Anthony T Moore; Andrew R Webster; Mark E Pennesi
Journal:  JAMA Ophthalmol       Date:  2017-07-01       Impact factor: 7.389

3.  Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing.

Authors:  Jianli Li; Jia Tang; Yanming Feng; Mingchu Xu; Rui Chen; Xuan Zou; Ruifang Sui; Emmanuel Y Chang; Richard A Lewis; Victor W Zhang; Jing Wang; Lee-Jun C Wong
Journal:  J Mol Diagn       Date:  2016-09-10       Impact factor: 5.568

4.  RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

Authors:  Dror Sharon; Michael A Sandberg; Vivian W Rabe; Melissa Stillberger; Thaddeus P Dryja; Eliot L Berson
Journal:  Am J Hum Genet       Date:  2003-10-16       Impact factor: 11.025

5.  Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.

Authors:  Katie Weihbrecht; Wesley A Goar; Thomas Pak; Janelle E Garrison; Adam P DeLuca; Edwin M Stone; Todd E Scheetz; Val C Sheffield
Journal:  Med Res Arch       Date:  2017-09-18

6.  Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Authors:  Edwin M Stone; Jeaneen L Andorf; S Scott Whitmore; Adam P DeLuca; Joseph C Giacalone; Luan M Streb; Terry A Braun; Robert F Mullins; Todd E Scheetz; Val C Sheffield; Budd A Tucker
Journal:  Ophthalmology       Date:  2017-05-27       Impact factor: 12.079

7.  RPGR mutation analysis and disease: an update.

Authors:  Xinhua Shu; Graeme C Black; Jacqueline M Rice; Niki Hart-Holden; Alison Jones; Anna O'Grady; Simon Ramsden; Alan F Wright
Journal:  Hum Mutat       Date:  2007-04       Impact factor: 4.878

8.  Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing.

Authors:  Xiu-Feng Huang; Juan Wu; Ji-Neng Lv; Xiao Zhang; Zi-Bing Jin
Journal:  Genet Med       Date:  2015-01-08       Impact factor: 8.822

9.  BioVenn - a web application for the comparison and visualization of biological lists using area-proportional Venn diagrams.

Authors:  Tim Hulsen; Jacob de Vlieg; Wynand Alkema
Journal:  BMC Genomics       Date:  2008-10-16       Impact factor: 3.969

10.  Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.

Authors:  Nikolas Pontikos; Gavin Arno; Neringa Jurkute; Elena Schiff; Rola Ba-Abbad; Samantha Malka; Ainoa Gimenez; Michalis Georgiou; Genevieve Wright; Monica Armengol; Hannah Knight; Menachem Katz; Mariya Moosajee; Patrick Yu-Wai-Man; Anthony T Moore; Michel Michaelides; Andrew R Webster; Omar A Mahroo
Journal:  Ophthalmology       Date:  2020-04-16       Impact factor: 12.079
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