Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement
- Submitting institution
-
The University of Bradford
- Unit of assessment
- 3 - Allied Health Professions, Dentistry, Nursing and Pharmacy
- Output identifier
- 46
- Type
- D - Journal article
- DOI
-
10.1016/j.ajhg.2015.04.006
- Title of journal
- The American Journal of Human Genetics
- Article number
- -
- First page
- 948
- Volume
- 96
- Issue
- 6
- ISSN
- 0002-9297
- Open access status
- Out of scope for open access requirements
- Month of publication
- -
- Year of publication
- 2015
- URL
-
https://www.cell.com/ajhg/fulltext/S0002-9297(15)00143-3#20
- Supplementary information
-
-
- Request cross-referral to
- -
- Output has been delayed by COVID-19
- No
- COVID-19 affected output statement
- -
- Forensic science
- No
- Criminology
- No
- Interdisciplinary
- No
- Number of additional authors
-
17
- Research group(s)
-
-
- Citation count
- 24
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- DJMcK contribution to this paper lay primarily in performing the objective, electrophysiological testing of macular function in human subjects with the specific retinal dystrophy associated with identified genetic mutation. Patients were assessed at University of Bradford where they had flash and pattern electroretinograms recorded to provide a phenotypic characterisation of the genotype. These results were compared with age-matched normal controls allowing identification of severe deficits of macular function. DJMcK produced figure S3 which appeared in the supplemental data section published with the main paper. DJMcK drafted the relevant results section and provided critical input by revising the manuscript before submission.
- Non-English
- No
- English abstract
- -
