Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment Article Swipe
Manuela Wiessner
,
Andreas Roos
,
Christopher J. Munn
,
Ranjith Viswanathan
,
Tamieka Whyte
,
Dan Cox
,
Benedikt Schoser
,
Caroline A. Sewry
,
Helen Roper
,
Rahul Phadke
,
C. Marini Bettolo
,
Rita Barresi
,
Richard Charlton
,
Carsten G. Bönnemann
,
Osório Lopes Abath Neto
,
Umbertina Conti Reed
,
Edmar Zanoteli
,
Cristiane Araújo Martins Moreno
,
Birgit Ertl‐Wagner
,
Rolf Stucka
,
Christian de Goede
,
Tamiris Borges da Silva
,
Denisa Hathazi
,
Margherita Dell’Aica
,
René P. Zahedi
,
Simone Thiele
,
Juliane Müller
,
Helen Kingston
,
Susanna Müller
,
Elizabeth Curtis
,
Maggie C. Walter
,
Tim M. Strom
,
Volker Straub
,
Kate Bushby
,
Francesco Muntoni
,
Laura E. Swan
,
Hanns Lochmüller
,
Jan Senderek
·
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.1016/j.ajhg.2017.01.024
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.1016/j.ajhg.2017.01.024
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1016/j.ajhg.2017.01.024
- http://www.cell.com/article/S0002929717300241/pdf
- OA Status
- hybrid
- Cited By
- 67
- References
- 69
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2586619822
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2586619822Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1016/j.ajhg.2017.01.024Digital Object Identifier
- Title
-
Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive ImpairmentWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2017Year of publication
- Publication date
-
2017-02-09Full publication date if available
- Authors
-
Manuela Wiessner, Andreas Roos, Christopher J. Munn, Ranjith Viswanathan, Tamieka Whyte, Dan Cox, Benedikt Schoser, Caroline A. Sewry, Helen Roper, Rahul Phadke, C. Marini Bettolo, Rita Barresi, Richard Charlton, Carsten G. Bönnemann, Osório Lopes Abath Neto, Umbertina Conti Reed, Edmar Zanoteli, Cristiane Araújo Martins Moreno, Birgit Ertl‐Wagner, Rolf Stucka, Christian de Goede, Tamiris Borges da Silva, Denisa Hathazi, Margherita Dell’Aica, René P. Zahedi, Simone Thiele, Juliane Müller, Helen Kingston, Susanna Müller, Elizabeth Curtis, Maggie C. Walter, Tim M. Strom, Volker Straub, Kate Bushby, Francesco Muntoni, Laura E. Swan, Hanns Lochmüller, Jan SenderekList of authors in order
- Landing page
-
https://doi.org/10.1016/j.ajhg.2017.01.024Publisher landing page
- PDF URL
-
https://www.cell.com/article/S0002929717300241/pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
-
https://www.cell.com/article/S0002929717300241/pdfDirect OA link when available
- Concepts
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Hypotonia, Cataracts, Biology, Zebrafish, Congenital muscular dystrophy, Phosphatase, Inositol, Muscular dystrophy, Cell biology, Genetics, Endocrinology, Gene, Phosphorylation, ReceptorTop concepts (fields/topics) attached by OpenAlex
- Cited by
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67Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 6, 2024: 5, 2023: 8, 2022: 7, 2021: 9Per-year citation counts (last 5 years)
- References (count)
-
69Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| counts_by_year[2].year | 2023 |
| counts_by_year[2].cited_by_count | 8 |
| counts_by_year[3].year | 2022 |
| counts_by_year[3].cited_by_count | 7 |
| counts_by_year[4].year | 2021 |
| counts_by_year[4].cited_by_count | 9 |
| counts_by_year[5].year | 2020 |
| counts_by_year[5].cited_by_count | 15 |
| counts_by_year[6].year | 2019 |
| counts_by_year[6].cited_by_count | 7 |
| counts_by_year[7].year | 2018 |
| counts_by_year[7].cited_by_count | 6 |
| counts_by_year[8].year | 2017 |
| counts_by_year[8].cited_by_count | 4 |
| locations_count | 8 |
| best_oa_location.id | doi:10.1016/j.ajhg.2017.01.024 |
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| best_oa_location.source.id | https://openalex.org/S134425043 |
| best_oa_location.source.issn | 0002-9297, 1537-6605 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | False |
| best_oa_location.source.issn_l | 0002-9297 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | The American Journal of Human Genetics |
| 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.source.host_organization_lineage_names | Elsevier BV |
| best_oa_location.license | cc-by |
| best_oa_location.pdf_url | http://www.cell.com/article/S0002929717300241/pdf |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | The American Journal of Human Genetics |
| best_oa_location.landing_page_url | https://doi.org/10.1016/j.ajhg.2017.01.024 |
| primary_location.id | doi:10.1016/j.ajhg.2017.01.024 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S134425043 |
| primary_location.source.issn | 0002-9297, 1537-6605 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | 0002-9297 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | The American Journal of Human Genetics |
| 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.source.host_organization_lineage_names | Elsevier BV |
| primary_location.license | cc-by |
| primary_location.pdf_url | http://www.cell.com/article/S0002929717300241/pdf |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | https://openalex.org/licenses/cc-by |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | The American Journal of Human Genetics |
| primary_location.landing_page_url | https://doi.org/10.1016/j.ajhg.2017.01.024 |
| publication_date | 2017-02-09 |
| publication_year | 2017 |
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| referenced_works_count | 69 |
| abstract_inverted_index | |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 97 |
| corresponding_author_ids | https://openalex.org/A5063027993 |
| countries_distinct_count | 4 |
| institutions_distinct_count | 38 |
| corresponding_institution_ids | https://openalex.org/I4210133604, https://openalex.org/I8204097 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.4399999976158142 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.94300722 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |