Literature DB >> 28823343

Genetic Testing for Inherited Retinal Disease.

Anthony T Moore1.   

Abstract

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Mesh：

Year:  2017        PMID： 28823343     DOI： 10.1016/j.ophtha.2017.06.018

Source DB:  PubMed          Journal:  Ophthalmology        ISSN： 0161-6420            Impact factor:   12.079


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  7 in total

Review 1.  Prospects of Non-Coding Elements in Genomic DNA Based Gene Therapy.

Authors:  S P Simna; Zongchao Han
Journal:  Curr Gene Ther       Date:  2022       Impact factor: 4.676

2.  Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients.

Authors:  Lama Jaffal; Wissam H Joumaa; Alexandre Assi; Charles Helou; Christel Condroyer; Maya El Dor; Georges Cherfan; Christina Zeitz; Isabelle Audo; Kazem Zibara; Said El Shamieh
Journal:  Genes (Basel)       Date:  2019-02-18       Impact factor: 4.096

3.  Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.

Authors:  Ahra Cho; Jose Ronaldo Lima de Carvalho; Akemi J Tanaka; Ruben Jauregui; Sarah R Levi; Alexander G Bassuk; Vinit B Mahajan; Stephen H Tsang
Journal:  Orphanet J Rare Dis       Date:  2020-01-30       Impact factor: 4.123

Review 4.  Genetic testing and diagnosis of inherited retinal diseases.

Authors:  Byron L Lam; Bart P Leroy; Graeme Black; Tuyen Ong; Dan Yoon; Karmen Trzupek
Journal:  Orphanet J Rare Dis       Date:  2021-12-14       Impact factor: 4.123

5.  Genetic Testing of Inherited Retinal Disease in Australian Private Tertiary Ophthalmology Practice.

Authors:  Sena A Gocuk; Yuanzhang Jiao; Alexis Ceecee Britten-Jones; Nathan M Kerr; Lyndell Lim; Simon Skalicky; Richard Stawell; Lauren N Ayton; Heather G Mack
Journal:  Clin Ophthalmol       Date:  2022-04-13

Review 6.  Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium.

Authors:  Debra A Thompson; Alessandro Iannaccone; Robin R Ali; Vadim Y Arshavsky; Isabelle Audo; James W B Bainbridge; Cagri G Besirli; David G Birch; Kari E Branham; Artur V Cideciyan; Steven P Daiger; Deniz Dalkara; Jacque L Duncan; Abigail T Fahim; John G Flannery; Roberto Gattegna; John R Heckenlively; Elise Heon; K Thiran Jayasundera; Naheed W Khan; Henry Klassen; Bart P Leroy; Robert S Molday; David C Musch; Mark E Pennesi; Simon M Petersen-Jones; Eric A Pierce; Rajesh C Rao; Thomas A Reh; Jose A Sahel; Dror Sharon; Paul A Sieving; Enrica Strettoi; Paul Yang; David N Zacks
Journal:  Transl Vis Sci Technol       Date:  2020-06-03       Impact factor: 3.283

7.  Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Authors:  Dabin Moon; Hye Won Park; Dongheon Surl; Dongju Won; Seung-Tae Lee; Saeam Shin; Jong Rak Choi; Jinu Han
Journal:  Genes (Basel)       Date:  2021-12-23       Impact factor: 4.096
  7 in total

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