Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study-Reference-Cited by-同舟云学术

Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study

Published:2022-03-21 Issue:5 Volume:43 Page:613-624
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Hufnagel Robert B.¹^ORCID,Liang Wendi²,Duncan Jacque L.³,Brewer Carmen C.⁴,Audo Isabelle⁵⁶^ORCID,Ayala Allison R.²^ORCID,Branham Kari⁷,Cheetham Janet K.⁸,Daiger Stephen P.⁹,Durham Todd A.⁸,Guan Bin¹,Heon Elise¹⁰^ORCID,Hoyng Carel B.¹¹,Iannaccone Alessandro¹²,Kay Christine N.¹³,Michaelides Michel¹⁴,Pennesi Mark E.¹⁵,Singh Mandeep S.¹⁶,Ullah Ehsan¹,

Affiliation:

1. Ophthalmic Genetics and Visual Function Branch National Eye Institute Bethesda Maryland USA

2. Foundation Fighting Blindness Consortium Coordinating Center Jaeb Center for Health Research Tampa Florida USA

3. Department of Ophthalmology University of California, San Francisco San Francisco California USA

4. Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders National Institutes of Health Bethesda Maryland USA

5. Institut de la Vision, Sorbonne Université, INSERM CNRS Paris France

6. Centre Hospitalier National d'Ophtalmologie des Quinze‐Vingts INSERM‐DGOS Paris France

7. Department of Ophthalmology and Vision Sciences, Kellogg Eye Center University of Michigan Ann Arbor Michigan USA

8. Foundation Fighting Blindness Columbia Maryland USA

9. Health Science Center The University of Texas Houston Texas USA

10. Departments of Ophthalmology and Vision Sciences, The Hospital for Sick Children The University of Toronto Toronto Ontario Canada

11. Department of Ophthalmology Nijmegen Netherlands

12. Department of Ophthalmology, Duke Eye Center Duke University Medical School Durham North Carolina USA

13. Vitreoretinal Associates Gainesville Florida USA

14. Moorfields Eye Hospital and UCL Institute of Ophthalmology London UK

15. Paul H. Casey Ophthalmic Genetics Division Casey Eye Institute ‐ Oregon Health and Science University Portland Oregon USA

16. Wilmer Eye Institute John Hopkins University Baltimore Maryland USA

Funder

Foundation Fighting Blindness

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24365

Reference17 articles.

1. Enrichment of LOVD-USHbases with 152USH2AGenotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

2. Evidence for Functional Importance of Usherin/Fibronectin Interactions in Retinal Basement Membranes

3. The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline

4. Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity

5. Prevalence and genetic–phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease

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