Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies-Reference-Cited by-同舟云学术

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies

Published:2018-09-03 Issue:6 Volume:94 Page:554-563
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Patel N.¹,Alkuraya H.²,Alzahrani S.S.¹,Nowailaty S.R.³,Seidahmed M.Z.⁴,Alhemidan A.⁵,Ben‐Omran T.⁶,Ghazi N.G.⁷,Al‐Aqeel A.⁸⁹,Al‐Owain M.⁹¹⁰,Alzaidan H.I.⁹¹⁰,Faqeih E.¹¹,Kurdi W.¹²,Rahbeeni Z.⁹¹⁰,Ibrahim N.¹,Abdulwahab F.¹,Hashem M.¹,Shaheen R.¹,Abouelhoda M.¹¹³,Monies D.¹¹³,Khan A.O.¹¹⁴¹⁵,Aldahmesh M.A.¹,Alkuraya Fowzan S.¹⁹¹³^ORCID

Affiliation:

1. Department of GeneticsKing Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

2. Global Eye CareSpecialized Medical Center Hospital Riyadh Saudi Arabia

3. Vitreoretinal DivisionKing Khaled Eye Specialist Hospital Riyadh Saudi Arabia

4. Pediatric DepartmentSecurity Forces Hospital Riyadh Saudi Arabia

5. Department of OphthalmologyPrince Sultan Military Medical City Riyadh Saudi Arabia

6. Clinical and Metabolic Genetics, Department of PediatricsHamad Medical Corporation Doha Qatar

7. Department of OphthalmologyLebanese American University, Lebanese American University Medical Center Rizk Hospital Beirut Lebanon

8. Department of PediatricPrince Sultan Medical Military City Riyadh Saudi Arabia

9. Department of Anatomy and Cell Biology, College of MedicineAlfaisal University Riyadh Saudi Arabia

10. Department of Medical GeneticsKing Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

11. Section of Medical Genetics, Department of Pediatric SubspecialtiesChildren's Specialist Hospital, King Fahad Medical City Riyadh Saudi Arabia

12. Department of Obstetrics and GynecologyKing Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

13. Saudi Human Genome ProjectKing Abdulaziz City for Science and Technology Riyadh Saudi Arabia

14. Eye InstituteCleveland Clinic Abu Dhabi Abu Dhabi United Arab Emirates

15. Department of OphthalmologyCleveland Clinic Lerner College of Medicine of Case Western University Cleveland Ohio

Funder

King Abdulaziz City for Science and Technology

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13426

Reference15 articles.

1. Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing

2. Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives

3. Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

4. Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

5. Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences;International Journal of Molecular Sciences;2024-06-03

2. Novel ATF6 homozygous variant in a Chinese patient with achromatopsia;Ophthalmic Genetics;2024-02-29

3. Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease;Genes;2023-06-23

4. The Diagnostic Yield of Next Generation Sequencing in Inherited Retinal Diseases: A Systematic Review and Meta-analysis;American Journal of Ophthalmology;2023-05

5. Heterogeneity in biomarkers, mitogenome and genetic disorders of Arab population with special emphasis on large-scale whole-exome sequencing;Archives of Medical Science;2021-12-27