Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Challenges to Routine Genetic Testing for Inherited Retinal Dystrophies.

Literature DB >> 31028769

Challenges to Routine Genetic Testing for Inherited Retinal Dystrophies.

Albert S Li¹, Donna MacKay¹, Howard Chen¹, Rithwick Rajagopal¹, Rajendra S Apte².

Abstract

Entities: Chemical Disease Gene Species

Year: 2019 PMID： 31028769 PMCID： PMC6756956 DOI： 10.1016/j.ophtha.2019.04.031

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

× No keyword cloud information.

5 in total

1. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.

Authors: Stephen Russell; Jean Bennett; Jennifer A Wellman; Daniel C Chung; Zi-Fan Yu; Amy Tillman; Janet Wittes; Julie Pappas; Okan Elci; Sarah McCague; Dominique Cross; Kathleen A Marshall; Jean Walshire; Taylor L Kehoe; Hannah Reichert; Maria Davis; Leslie Raffini; Lindsey A George; F Parker Hudson; Laura Dingfield; Xiaosong Zhu; Julia A Haller; Elliott H Sohn; Vinit B Mahajan; Wanda Pfeifer; Michelle Weckmann; Chris Johnson; Dina Gewaily; Arlene Drack; Edwin Stone; Katie Wachtel; Francesca Simonelli; Bart P Leroy; J Fraser Wright; Katherine A High; Albert M Maguire
Journal: Lancet Date: 2017-07-14 Impact factor: 79.321

Review 2. Gene Therapy for Retinal Degeneration.

Authors: Rajendra S Apte
Journal: Cell Date: 2018-03-22 Impact factor: 41.582

Review 3. The cost of genetic testing for ocular disease: who pays?

Authors: Jenina E Capasso
Journal: Curr Opin Ophthalmol Date: 2014-09 Impact factor: 3.761

4. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing.

Authors: Edwin M Stone; Anthony J Aldave; Arlene V Drack; Mathew W Maccumber; Val C Sheffield; Elias Traboulsi; Richard G Weleber
Journal: Ophthalmology Date: 2012-09-01 Impact factor: 12.079

5. 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

5 in total

3 in total

Challenges to Routine Genetic Testing for Inherited Retinal Dystrophies.

1. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.

Review 2. Gene Therapy for Retinal Degeneration.

Review 3. The cost of genetic testing for ocular disease: who pays?

4. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing.

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

1. Utility of No-Charge Panel Genetic Testing for Inherited Retinal Diseases in a Real-World Clinical Setting.

2. The Current State of Genetic Testing Platforms for Inherited Retinal Diseases.

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