Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia Article Swipe
Maria Asif
,
Arwa Ishaq A. Khayyat
,
Salem Alawbathani
,
Uzma Abdullah
,
Anne Sanner
,
Theodoros Georgomanolis
,
Judith Haasters
,
Kerstin Becker
,
Birgit Budde
,
Christian Becker
,
Hölger Thiele
,
Shahid Mahmood Baig
,
María Isidoro‐García
,
Dominic Winter
,
Hans‐Martin Pogoda
,
Sajjad Muhammad
,
Matthias Hammerschmidt
,
Florian Kraft
,
Ingo Kurth
,
Hilario Gomez Martin
,
Matias Wagner
,
Peter Nürnberg
,
Muhammad Sajid Hussain
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1016/j.gim.2024.101143
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1016/j.gim.2024.101143
Related Topics
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Metadata
- Type
- article
- Language
- en
- Landing Page
- http://doi.org/10.1016/j.gim.2024.101143
- https://doi.org/10.1016/j.gim.2024.101143
- OA Status
- bronze
- References
- 41
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4394859412
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4394859412Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1016/j.gim.2024.101143Digital Object Identifier
- Title
-
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-04-16Full publication date if available
- Authors
-
Maria Asif, Arwa Ishaq A. Khayyat, Salem Alawbathani, Uzma Abdullah, Anne Sanner, Theodoros Georgomanolis, Judith Haasters, Kerstin Becker, Birgit Budde, Christian Becker, Hölger Thiele, Shahid Mahmood Baig, María Isidoro‐García, Dominic Winter, Hans‐Martin Pogoda, Sajjad Muhammad, Matthias Hammerschmidt, Florian Kraft, Ingo Kurth, Hilario Gomez Martin, Matias Wagner, Peter Nürnberg, Muhammad Sajid HussainList of authors in order
- Landing page
-
https://doi.org/10.1016/j.gim.2024.101143Publisher landing page
- PDF URL
-
https://doi.org/10.1016/j.gim.2024.101143Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.1016/j.gim.2024.101143Direct OA link when available
- Concepts
-
Microcephaly, Hypotonia, Neurodevelopmental disorder, Loss function, Medicine, Muscle Hypotonia, Intellectual disability, Pediatrics, Genetics, Phenotype, Biology, Psychiatry, Autism, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
- References (count)
-
41Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| best_oa_location.source.issn_l | 1098-3600 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | Genetics in Medicine |
| best_oa_location.source.host_organization | https://openalex.org/P4310320990 |
| best_oa_location.source.host_organization_name | Elsevier BV |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310320990 |
| best_oa_location.license | |
| best_oa_location.pdf_url | https://doi.org/10.1016/j.gim.2024.101143 |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | Genetics in Medicine |
| best_oa_location.landing_page_url | http://doi.org/10.1016/j.gim.2024.101143 |
| primary_location.id | doi:10.1016/j.gim.2024.101143 |
| primary_location.is_oa | True |
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| primary_location.source.issn | 1098-3600, 1530-0366 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | 1098-3600 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | Genetics in Medicine |
| primary_location.source.host_organization | https://openalex.org/P4310320990 |
| primary_location.source.host_organization_name | Elsevier BV |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310320990 |
| primary_location.license | |
| primary_location.pdf_url | https://doi.org/10.1016/j.gim.2024.101143 |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | Genetics in Medicine |
| primary_location.landing_page_url | http://doi.org/10.1016/j.gim.2024.101143 |
| publication_date | 2024-04-16 |
| publication_year | 2024 |
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| referenced_works_count | 41 |
| abstract_inverted_index | |
| cited_by_percentile_year | |
| corresponding_author_ids | https://openalex.org/A5025713450 |
| countries_distinct_count | 4 |
| institutions_distinct_count | 23 |
| corresponding_institution_ids | https://openalex.org/I180923762, https://openalex.org/I4210153755 |
| citation_normalized_percentile.value | 0.07655552 |
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| citation_normalized_percentile.is_in_top_10_percent | False |