Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
- Submitting institution
-
University of Exeter
- Unit of assessment
- 3 - Allied Health Professions, Dentistry, Nursing and Pharmacy
- Output identifier
- 5342
- Type
- D - Journal article
- DOI
-
10.1016/j.ajhg.2020.01.007
- Title of journal
- American Journal of Human Genetics
- Article number
- -
- First page
- 272
- Volume
- 106
- Issue
- 2
- ISSN
- 0002-9297
- Open access status
- Compliant
- Month of publication
- January
- Year of publication
- 2020
- URL
-
-
- Supplementary information
-
https://www.cell.com/cms/10.1016/j.ajhg.2020.01.007/attachment/cd1ce471-fabe-4e8b-bcf7-974b4694b758/mmc1.pdf
- Request cross-referral to
- 1 - Clinical Medicine
- Output has been delayed by COVID-19
- No
- COVID-19 affected output statement
- -
- Forensic science
- No
- Criminology
- No
- Interdisciplinary
- No
- Number of additional authors
-
28
- Research group(s)
-
-
- Citation count
- 6
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- -
- Non-English
- No
- English abstract
- -