De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females Article Swipe
Dong Li
,
Alanna Strong
,
Kaitlyn M Shen
,
David Cassiman
,
Maria Van Dyck
,
Natália D. Linhares
,
Eugênia Ribeiro Valadares
,
Tian-Cheng Wang
,
Sérgio D.J. Pena
,
Jaak Jaeken
,
Samantha A. Schrier Vergano
,
Elaine H. Zackai
,
Anne Hing
,
Penny Chow
,
Arupa Ganguly
,
Tasja Scholz
,
Tatjana Bierhals
,
Philipp Deindl
,
Håkon Håkonarson
,
Elizabeth Bhoj
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1038/s41436-020-01031-7
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1038/s41436-020-01031-7
Related Topics
Concepts
Frameshift mutation
Nonsense
Intellectual disability
Exome sequencing
Genetics
Phenotype
Medicine
Missense mutation
Global developmental delay
Loss function
Medical genetics
Biology
Gene
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1038/s41436-020-01031-7
- http://www.gimjournal.org/article/S1098360021024503/pdf
- OA Status
- bronze
- Cited By
- 31
- References
- 43
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3108867080
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3108867080Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1038/s41436-020-01031-7Digital Object Identifier
- Title
-
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in femalesWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2020Year of publication
- Publication date
-
2020-11-26Full publication date if available
- Authors
-
Dong Li, Alanna Strong, Kaitlyn M Shen, David Cassiman, Maria Van Dyck, Natália D. Linhares, Eugênia Ribeiro Valadares, Tian-Cheng Wang, Sérgio D.J. Pena, Jaak Jaeken, Samantha A. Schrier Vergano, Elaine H. Zackai, Anne Hing, Penny Chow, Arupa Ganguly, Tasja Scholz, Tatjana Bierhals, Philipp Deindl, Håkon Håkonarson, Elizabeth BhojList of authors in order
- Landing page
-
https://doi.org/10.1038/s41436-020-01031-7Publisher landing page
- PDF URL
-
https://www.gimjournal.org/article/S1098360021024503/pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://www.gimjournal.org/article/S1098360021024503/pdfDirect OA link when available
- Concepts
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Frameshift mutation, Nonsense, Intellectual disability, Exome sequencing, Genetics, Phenotype, Medicine, Missense mutation, Global developmental delay, Loss function, Medical genetics, Biology, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
31Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 6, 2024: 7, 2023: 6, 2022: 7, 2021: 5Per-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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| counts_by_year[3].cited_by_count | 7 |
| counts_by_year[4].year | 2021 |
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| publication_date | 2020-11-26 |
| publication_year | 2020 |
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