Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes Article Swipe
Zheng Yie Yap
,
Yohan Park
,
Saskia B. Wortmann
,
Adam C. Gunning
,
Shlomit Ezer
,
Sukyeong Lee
,
Lita Duraine
,
Ekkehard Wilichowski
,
Kate Wilson
,
Johannes A. Mayr
,
Matias Wagner
,
Hong Li
,
Usha Kini
,
Emily D. Black
,
Kristin G. Monaghan
,
James R. Lupski
,
Sian Ellard
,
Dominik S. Westphal
,
Tamar Harel
,
Wan Hee Yoon
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1186/s13073-021-00873-3
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1186/s13073-021-00873-3
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1186/s13073-021-00873-3
- https://genomemedicine.biomedcentral.com/track/pdf/10.1186/s13073-021-00873-3
- OA Status
- gold
- Cited By
- 30
- References
- 43
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3155984895
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W3155984895Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1186/s13073-021-00873-3Digital Object Identifier
- Title
-
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypesWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-04-12Full publication date if available
- Authors
-
Zheng Yie Yap, Yohan Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee, Lita Duraine, Ekkehard Wilichowski, Kate Wilson, Johannes A. Mayr, Matias Wagner, Hong Li, Usha Kini, Emily D. Black, Kristin G. Monaghan, James R. Lupski, Sian Ellard, Dominik S. Westphal, Tamar Harel, Wan Hee YoonList of authors in order
- Landing page
-
https://doi.org/10.1186/s13073-021-00873-3Publisher landing page
- PDF URL
-
https://genomemedicine.biomedcentral.com/track/pdf/10.1186/s13073-021-00873-3Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://genomemedicine.biomedcentral.com/track/pdf/10.1186/s13073-021-00873-3Direct OA link when available
- Concepts
-
Missense mutation, Genetics, Biology, Frameshift mutation, Allele, Hypotonia, Phenotype, Exome sequencing, Loss function, Mitochondrial Encephalomyopathies, Null allele, Mitochondrial DNA, Gene, Mitochondrial myopathyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
30Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 4, 2024: 9, 2023: 10, 2022: 3, 2021: 4Per-year citation counts (last 5 years)
- References (count)
-
43Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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