Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy Article Swipe
Judith M.A. Verhagen
,
Myrthe van den Born
,
Herma C. van der Linde
,
Peter G. J. Nikkels
,
Robert M. Verdijk
,
Maryann H. Kivlen
,
Leontine van Unen
,
Annette F. Baas
,
Henriëtte ter Heide
,
Lennie van Osch‐Gevers
,
Marianne Hoogeveen‐Westerveld
,
Johanna C. Herkert
,
Aida M. Bertoli‐Avella
,
Marjon A. van Slegtenhorst
,
Marja W. Wessels
,
Frans W. Verheijen
,
David Hassel
,
Robert M.W. Hofstra
,
Ramanujan S. Hegde
,
Peter M. van Hasselt
,
Tjakko J. van Ham
,
Ingrid M.B.H. van de Laar
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1161/circgen.119.002507
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1161/circgen.119.002507
Background: Pediatric cardiomyopathies are a clinically and genetically heterogeneous group of heart muscle disorders associated with high morbidity and mortality. Although knowledge of the genetic basis of pediatric cardiomyopathy has improved considerably, the underlying cause remains elusive in a substantial proportion of cases. Methods: Exome sequencing was used to screen for the causative genetic defect in a pair of siblings with rapidly progressive dilated cardiomyopathy and death in early infancy. Protein expression was assessed in patient samples, followed by an in vitro tail-anchored protein insertion assay and functional analyses in zebrafish. Results: We identified compound heterozygous variants in the highly conserved ASNA1 gene (arsA arsenite transporter, ATP-binding, homolog), which encodes an ATPase required for post-translational membrane insertion of tail-anchored proteins. The c.913C>T variant on the paternal allele is predicted to result in a premature stop codon p.(Gln305*), and likely explains the decreased protein expression observed in myocardial tissue and skin fibroblasts. The c.488T>C variant on the maternal allele results in a valine to alanine substitution at residue 163 (p.Val163Ala). Functional studies showed that this variant leads to protein misfolding as well as less effective tail-anchored protein insertion. Loss of asna1 in zebrafish resulted in reduced cardiac contractility and early lethality. In contrast to wild-type mRNA, injection of either mutant mRNA failed to rescue this phenotype. Conclusions: Biallelic variants in ASNA1 cause severe pediatric cardiomyopathy and early death. Our findings point toward a critical role of the tail-anchored membrane protein insertion pathway in vertebrate cardiac function and disease.
Related Topics
Concepts
Biology
Cardiomyopathy
Phenotype
Zebrafish
Exome sequencing
Genetics
Allele
Mutant protein
Mutation
Exome
Molecular biology
Gene
Medicine
Internal medicine
Heart failure
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1161/circgen.119.002507
- https://www.ahajournals.org/doi/pdf/10.1161/CIRCGEN.119.002507
- OA Status
- hybrid
- Cited By
- 11
- References
- 33
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2971867244
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W2971867244Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1161/circgen.119.002507Digital Object Identifier
- Title
-
Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric CardiomyopathyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2019Year of publication
- Publication date
-
2019-09-01Full publication date if available
- Authors
-
Judith M.A. Verhagen, Myrthe van den Born, Herma C. van der Linde, Peter G. J. Nikkels, Robert M. Verdijk, Maryann H. Kivlen, Leontine van Unen, Annette F. Baas, Henriëtte ter Heide, Lennie van Osch‐Gevers, Marianne Hoogeveen‐Westerveld, Johanna C. Herkert, Aida M. Bertoli‐Avella, Marjon A. van Slegtenhorst, Marja W. Wessels, Frans W. Verheijen, David Hassel, Robert M.W. Hofstra, Ramanujan S. Hegde, Peter M. van Hasselt, Tjakko J. van Ham, Ingrid M.B.H. van de LaarList of authors in order
- Landing page
-
https://doi.org/10.1161/circgen.119.002507Publisher landing page
- PDF URL
-
https://www.ahajournals.org/doi/pdf/10.1161/CIRCGEN.119.002507Direct 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.ahajournals.org/doi/pdf/10.1161/CIRCGEN.119.002507Direct OA link when available
- Concepts
-
Biology, Cardiomyopathy, Phenotype, Zebrafish, Exome sequencing, Genetics, Allele, Mutant protein, Mutation, Exome, Molecular biology, Gene, Medicine, Internal medicine, Heart failureTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
11Total citation count in OpenAlex
- Citations by year (recent)
-
2024: 1, 2023: 4, 2022: 4, 2021: 1, 2020: 1Per-year citation counts (last 5 years)
- References (count)
-
33Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W2971867244 |
|---|---|
| doi | https://doi.org/10.1161/circgen.119.002507 |
| ids.doi | https://doi.org/10.1161/circgen.119.002507 |
| ids.mag | 2971867244 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/31461301 |
| ids.openalex | https://openalex.org/W2971867244 |
| fwci | 1.12821501 |
| mesh[0].qualifier_ui | |
| mesh[0].descriptor_ui | D000483 |
| mesh[0].is_major_topic | False |
| mesh[0].qualifier_name | |
| mesh[0].descriptor_name | Alleles |
| mesh[1].qualifier_ui | |
| mesh[1].descriptor_ui | D000595 |
| mesh[1].is_major_topic | False |
| mesh[1].qualifier_name | |
| mesh[1].descriptor_name | Amino Acid Sequence |
| mesh[2].qualifier_ui | |
| mesh[2].descriptor_ui | D000818 |
| mesh[2].is_major_topic | False |
| mesh[2].qualifier_name | |
| mesh[2].descriptor_name | Animals |
| mesh[3].qualifier_ui | Q000737 |
| mesh[3].descriptor_ui | D053501 |
| mesh[3].is_major_topic | False |
| mesh[3].qualifier_name | chemistry |
| mesh[3].descriptor_name | Arsenite Transporting ATPases |
| mesh[4].qualifier_ui | Q000235 |
| mesh[4].descriptor_ui | D053501 |
| mesh[4].is_major_topic | False |
| mesh[4].qualifier_name | genetics |
| mesh[4].descriptor_name | Arsenite Transporting ATPases |
| mesh[5].qualifier_ui | Q000378 |
| mesh[5].descriptor_ui | D053501 |
| mesh[5].is_major_topic | False |
| mesh[5].qualifier_name | metabolism |
| mesh[5].descriptor_name | Arsenite Transporting ATPases |
| mesh[6].qualifier_ui | Q000201 |
| mesh[6].descriptor_ui | D009202 |
| mesh[6].is_major_topic | False |
| mesh[6].qualifier_name | enzymology |
| mesh[6].descriptor_name | Cardiomyopathies |
| mesh[7].qualifier_ui | Q000235 |
| mesh[7].descriptor_ui | D009202 |
| mesh[7].is_major_topic | False |
| mesh[7].qualifier_name | genetics |
| mesh[7].descriptor_name | Cardiomyopathies |
| mesh[8].qualifier_ui | |
| mesh[8].descriptor_ui | D002675 |
| mesh[8].is_major_topic | False |
| mesh[8].qualifier_name | |
| mesh[8].descriptor_name | Child, Preschool |
| mesh[9].qualifier_ui | Q000201 |
| mesh[9].descriptor_ui | D003600 |
| mesh[9].is_major_topic | False |
| mesh[9].qualifier_name | enzymology |
| mesh[9].descriptor_name | Cytosol |
| mesh[10].qualifier_ui | |
| mesh[10].descriptor_ui | D004195 |
| mesh[10].is_major_topic | False |
| mesh[10].qualifier_name | |
| mesh[10].descriptor_name | Disease Models, Animal |
| mesh[11].qualifier_ui | |
| mesh[11].descriptor_ui | D059472 |
| mesh[11].is_major_topic | False |
| mesh[11].qualifier_name | |
| mesh[11].descriptor_name | Exome |
| mesh[12].qualifier_ui | |
| mesh[12].descriptor_ui | D005260 |
| mesh[12].is_major_topic | False |
| mesh[12].qualifier_name | |
| mesh[12].descriptor_name | Female |
| mesh[13].qualifier_ui | |
| mesh[13].descriptor_ui | D014644 |
| mesh[13].is_major_topic | False |
| mesh[13].qualifier_name | |
| mesh[13].descriptor_name | Genetic Variation |
| mesh[14].qualifier_ui | |
| mesh[14].descriptor_ui | D006801 |
| mesh[14].is_major_topic | False |
| mesh[14].qualifier_name | |
| mesh[14].descriptor_name | Humans |
| mesh[15].qualifier_ui | |
| mesh[15].descriptor_ui | D017354 |
| mesh[15].is_major_topic | True |
| mesh[15].qualifier_name | |
| mesh[15].descriptor_name | Point Mutation |
| mesh[16].qualifier_ui | |
| mesh[16].descriptor_ui | D021381 |
| mesh[16].is_major_topic | False |
| mesh[16].qualifier_name | |
| mesh[16].descriptor_name | Protein Transport |
| mesh[17].qualifier_ui | |
| mesh[17].descriptor_ui | D016415 |
| mesh[17].is_major_topic | False |
| mesh[17].qualifier_name | |
| mesh[17].descriptor_name | Sequence Alignment |
| mesh[18].qualifier_ui | Q000235 |
| mesh[18].descriptor_ui | D015027 |
| mesh[18].is_major_topic | False |
| mesh[18].qualifier_name | genetics |
| mesh[18].descriptor_name | Zebrafish |
| mesh[19].qualifier_ui | Q000378 |
| mesh[19].descriptor_ui | D015027 |
| mesh[19].is_major_topic | False |
| mesh[19].qualifier_name | metabolism |
| mesh[19].descriptor_name | Zebrafish |
| mesh[20].qualifier_ui | Q000737 |
| mesh[20].descriptor_ui | D029961 |
| mesh[20].is_major_topic | False |
| mesh[20].qualifier_name | chemistry |
| mesh[20].descriptor_name | Zebrafish Proteins |
| mesh[21].qualifier_ui | Q000235 |
| mesh[21].descriptor_ui | D029961 |
| mesh[21].is_major_topic | False |
| mesh[21].qualifier_name | genetics |
| mesh[21].descriptor_name | Zebrafish Proteins |
| mesh[22].qualifier_ui | Q000378 |
| mesh[22].descriptor_ui | D029961 |
| mesh[22].is_major_topic | False |
| mesh[22].qualifier_name | metabolism |
| mesh[22].descriptor_name | Zebrafish Proteins |
| mesh[23].qualifier_ui | |
| mesh[23].descriptor_ui | D000483 |
| mesh[23].is_major_topic | False |
| mesh[23].qualifier_name | |
| mesh[23].descriptor_name | Alleles |
| mesh[24].qualifier_ui | |
| mesh[24].descriptor_ui | D000595 |
| mesh[24].is_major_topic | False |
| mesh[24].qualifier_name | |
| mesh[24].descriptor_name | Amino Acid Sequence |
| mesh[25].qualifier_ui | |
| mesh[25].descriptor_ui | D000818 |
| mesh[25].is_major_topic | False |
| mesh[25].qualifier_name | |
| mesh[25].descriptor_name | Animals |
| mesh[26].qualifier_ui | Q000737 |
| mesh[26].descriptor_ui | D053501 |
| mesh[26].is_major_topic | False |
| mesh[26].qualifier_name | chemistry |
| mesh[26].descriptor_name | Arsenite Transporting ATPases |
| mesh[27].qualifier_ui | Q000235 |
| mesh[27].descriptor_ui | D053501 |
| mesh[27].is_major_topic | False |
| mesh[27].qualifier_name | genetics |
| mesh[27].descriptor_name | Arsenite Transporting ATPases |
| mesh[28].qualifier_ui | Q000378 |
| mesh[28].descriptor_ui | D053501 |
| mesh[28].is_major_topic | False |
| mesh[28].qualifier_name | metabolism |
| mesh[28].descriptor_name | Arsenite Transporting ATPases |
| mesh[29].qualifier_ui | Q000201 |
| mesh[29].descriptor_ui | D009202 |
| mesh[29].is_major_topic | False |
| mesh[29].qualifier_name | enzymology |
| mesh[29].descriptor_name | Cardiomyopathies |
| mesh[30].qualifier_ui | Q000235 |
| mesh[30].descriptor_ui | D009202 |
| mesh[30].is_major_topic | False |
| mesh[30].qualifier_name | genetics |
| mesh[30].descriptor_name | Cardiomyopathies |
| mesh[31].qualifier_ui | |
| mesh[31].descriptor_ui | D002675 |
| mesh[31].is_major_topic | False |
| mesh[31].qualifier_name | |
| mesh[31].descriptor_name | Child, Preschool |
| mesh[32].qualifier_ui | Q000201 |
| mesh[32].descriptor_ui | D003600 |
| mesh[32].is_major_topic | False |
| mesh[32].qualifier_name | enzymology |
| mesh[32].descriptor_name | Cytosol |
| mesh[33].qualifier_ui | |
| mesh[33].descriptor_ui | D004195 |
| mesh[33].is_major_topic | False |
| mesh[33].qualifier_name | |
| mesh[33].descriptor_name | Disease Models, Animal |
| mesh[34].qualifier_ui | |
| mesh[34].descriptor_ui | D059472 |
| mesh[34].is_major_topic | False |
| mesh[34].qualifier_name | |
| mesh[34].descriptor_name | Exome |
| mesh[35].qualifier_ui | |
| mesh[35].descriptor_ui | D005260 |
| mesh[35].is_major_topic | False |
| mesh[35].qualifier_name | |
| mesh[35].descriptor_name | Female |
| mesh[36].qualifier_ui | |
| mesh[36].descriptor_ui | D014644 |
| mesh[36].is_major_topic | False |
| mesh[36].qualifier_name | |
| mesh[36].descriptor_name | Genetic Variation |
| mesh[37].qualifier_ui | |
| mesh[37].descriptor_ui | D006801 |
| mesh[37].is_major_topic | False |
| mesh[37].qualifier_name | |
| mesh[37].descriptor_name | Humans |
| mesh[38].qualifier_ui | |
| mesh[38].descriptor_ui | D017354 |
| mesh[38].is_major_topic | True |
| mesh[38].qualifier_name | |
| mesh[38].descriptor_name | Point Mutation |
| mesh[39].qualifier_ui | |
| mesh[39].descriptor_ui | D021381 |
| mesh[39].is_major_topic | False |
| mesh[39].qualifier_name | |
| mesh[39].descriptor_name | Protein Transport |
| mesh[40].qualifier_ui | |
| mesh[40].descriptor_ui | D016415 |
| mesh[40].is_major_topic | False |
| mesh[40].qualifier_name | |
| mesh[40].descriptor_name | Sequence Alignment |
| mesh[41].qualifier_ui | Q000235 |
| mesh[41].descriptor_ui | D015027 |
| mesh[41].is_major_topic | False |
| mesh[41].qualifier_name | genetics |
| mesh[41].descriptor_name | Zebrafish |
| mesh[42].qualifier_ui | Q000378 |
| mesh[42].descriptor_ui | D015027 |
| mesh[42].is_major_topic | False |
| mesh[42].qualifier_name | metabolism |
| mesh[42].descriptor_name | Zebrafish |
| mesh[43].qualifier_ui | Q000737 |
| mesh[43].descriptor_ui | D029961 |
| mesh[43].is_major_topic | False |
| mesh[43].qualifier_name | chemistry |
| mesh[43].descriptor_name | Zebrafish Proteins |
| mesh[44].qualifier_ui | Q000235 |
| mesh[44].descriptor_ui | D029961 |
| mesh[44].is_major_topic | False |
| mesh[44].qualifier_name | genetics |
| mesh[44].descriptor_name | Zebrafish Proteins |
| mesh[45].qualifier_ui | Q000378 |
| mesh[45].descriptor_ui | D029961 |
| mesh[45].is_major_topic | False |
| mesh[45].qualifier_name | metabolism |
| mesh[45].descriptor_name | Zebrafish Proteins |
| mesh[46].qualifier_ui | |
| mesh[46].descriptor_ui | D000483 |
| mesh[46].is_major_topic | False |
| mesh[46].qualifier_name | |
| mesh[46].descriptor_name | Alleles |
| mesh[47].qualifier_ui | |
| mesh[47].descriptor_ui | D000595 |
| mesh[47].is_major_topic | False |
| mesh[47].qualifier_name | |
| mesh[47].descriptor_name | Amino Acid Sequence |
| mesh[48].qualifier_ui | |
| mesh[48].descriptor_ui | D000818 |
| mesh[48].is_major_topic | False |
| mesh[48].qualifier_name | |
| mesh[48].descriptor_name | Animals |
| mesh[49].qualifier_ui | Q000737 |
| mesh[49].descriptor_ui | D053501 |
| mesh[49].is_major_topic | False |
| mesh[49].qualifier_name | chemistry |
| mesh[49].descriptor_name | Arsenite Transporting ATPases |
| type | article |
| title | Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy |
| biblio.issue | 9 |
| biblio.volume | 12 |
| biblio.last_page | 406 |
| biblio.first_page | 397 |
| topics[0].id | https://openalex.org/T10882 |
| topics[0].field.id | https://openalex.org/fields/27 |
| topics[0].field.display_name | Medicine |
| topics[0].score | 0.9987999796867371 |
| topics[0].domain.id | https://openalex.org/domains/4 |
| topics[0].domain.display_name | Health Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/2705 |
| topics[0].subfield.display_name | Cardiology and Cardiovascular Medicine |
| topics[0].display_name | Cardiomyopathy and Myosin Studies |
| topics[1].id | https://openalex.org/T10604 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.996999979019165 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1312 |
| topics[1].subfield.display_name | Molecular Biology |
| topics[1].display_name | RNA Research and Splicing |
| topics[2].id | https://openalex.org/T11922 |
| topics[2].field.id | https://openalex.org/fields/27 |
| topics[2].field.display_name | Medicine |
| topics[2].score | 0.9955000281333923 |
| topics[2].domain.id | https://openalex.org/domains/4 |
| topics[2].domain.display_name | Health Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/2705 |
| topics[2].subfield.display_name | Cardiology and Cardiovascular Medicine |
| topics[2].display_name | Cardiovascular Effects of Exercise |
| is_xpac | False |
| apc_list | |
| apc_paid | |
| concepts[0].id | https://openalex.org/C86803240 |
| concepts[0].level | 0 |
| concepts[0].score | 0.6273815631866455 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[0].display_name | Biology |
| concepts[1].id | https://openalex.org/C2778797674 |
| concepts[1].level | 3 |
| concepts[1].score | 0.5283982157707214 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q847583 |
| concepts[1].display_name | Cardiomyopathy |
| concepts[2].id | https://openalex.org/C127716648 |
| concepts[2].level | 3 |
| concepts[2].score | 0.5053203701972961 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q104053 |
| concepts[2].display_name | Phenotype |
| concepts[3].id | https://openalex.org/C2776878037 |
| concepts[3].level | 3 |
| concepts[3].score | 0.5023155212402344 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q169444 |
| concepts[3].display_name | Zebrafish |
| concepts[4].id | https://openalex.org/C16671776 |
| concepts[4].level | 4 |
| concepts[4].score | 0.4695720374584198 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q5420592 |
| concepts[4].display_name | Exome sequencing |
| concepts[5].id | https://openalex.org/C54355233 |
| concepts[5].level | 1 |
| concepts[5].score | 0.46618956327438354 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[5].display_name | Genetics |
| concepts[6].id | https://openalex.org/C180754005 |
| concepts[6].level | 3 |
| concepts[6].score | 0.4444037079811096 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q80726 |
| concepts[6].display_name | Allele |
| concepts[7].id | https://openalex.org/C2779926675 |
| concepts[7].level | 4 |
| concepts[7].score | 0.438809871673584 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q6943700 |
| concepts[7].display_name | Mutant protein |
| concepts[8].id | https://openalex.org/C501734568 |
| concepts[8].level | 3 |
| concepts[8].score | 0.42831701040267944 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q42918 |
| concepts[8].display_name | Mutation |
| concepts[9].id | https://openalex.org/C10590036 |
| concepts[9].level | 5 |
| concepts[9].score | 0.4237639904022217 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q417664 |
| concepts[9].display_name | Exome |
| concepts[10].id | https://openalex.org/C153911025 |
| concepts[10].level | 1 |
| concepts[10].score | 0.3902854323387146 |
| concepts[10].wikidata | https://www.wikidata.org/wiki/Q7202 |
| concepts[10].display_name | Molecular biology |
| concepts[11].id | https://openalex.org/C104317684 |
| concepts[11].level | 2 |
| concepts[11].score | 0.36233705282211304 |
| concepts[11].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[11].display_name | Gene |
| concepts[12].id | https://openalex.org/C71924100 |
| concepts[12].level | 0 |
| concepts[12].score | 0.2684193551540375 |
| concepts[12].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[12].display_name | Medicine |
| concepts[13].id | https://openalex.org/C126322002 |
| concepts[13].level | 1 |
| concepts[13].score | 0.20587295293807983 |
| concepts[13].wikidata | https://www.wikidata.org/wiki/Q11180 |
| concepts[13].display_name | Internal medicine |
| concepts[14].id | https://openalex.org/C2778198053 |
| concepts[14].level | 2 |
| concepts[14].score | 0.15936070680618286 |
| concepts[14].wikidata | https://www.wikidata.org/wiki/Q181754 |
| concepts[14].display_name | Heart failure |
| keywords[0].id | https://openalex.org/keywords/biology |
| keywords[0].score | 0.6273815631866455 |
| keywords[0].display_name | Biology |
| keywords[1].id | https://openalex.org/keywords/cardiomyopathy |
| keywords[1].score | 0.5283982157707214 |
| keywords[1].display_name | Cardiomyopathy |
| keywords[2].id | https://openalex.org/keywords/phenotype |
| keywords[2].score | 0.5053203701972961 |
| keywords[2].display_name | Phenotype |
| keywords[3].id | https://openalex.org/keywords/zebrafish |
| keywords[3].score | 0.5023155212402344 |
| keywords[3].display_name | Zebrafish |
| keywords[4].id | https://openalex.org/keywords/exome-sequencing |
| keywords[4].score | 0.4695720374584198 |
| keywords[4].display_name | Exome sequencing |
| keywords[5].id | https://openalex.org/keywords/genetics |
| keywords[5].score | 0.46618956327438354 |
| keywords[5].display_name | Genetics |
| keywords[6].id | https://openalex.org/keywords/allele |
| keywords[6].score | 0.4444037079811096 |
| keywords[6].display_name | Allele |
| keywords[7].id | https://openalex.org/keywords/mutant-protein |
| keywords[7].score | 0.438809871673584 |
| keywords[7].display_name | Mutant protein |
| keywords[8].id | https://openalex.org/keywords/mutation |
| keywords[8].score | 0.42831701040267944 |
| keywords[8].display_name | Mutation |
| keywords[9].id | https://openalex.org/keywords/exome |
| keywords[9].score | 0.4237639904022217 |
| keywords[9].display_name | Exome |
| keywords[10].id | https://openalex.org/keywords/molecular-biology |
| keywords[10].score | 0.3902854323387146 |
| keywords[10].display_name | Molecular biology |
| keywords[11].id | https://openalex.org/keywords/gene |
| keywords[11].score | 0.36233705282211304 |
| keywords[11].display_name | Gene |
| keywords[12].id | https://openalex.org/keywords/medicine |
| keywords[12].score | 0.2684193551540375 |
| keywords[12].display_name | Medicine |
| keywords[13].id | https://openalex.org/keywords/internal-medicine |
| keywords[13].score | 0.20587295293807983 |
| keywords[13].display_name | Internal medicine |
| keywords[14].id | https://openalex.org/keywords/heart-failure |
| keywords[14].score | 0.15936070680618286 |
| keywords[14].display_name | Heart failure |
| language | en |
| locations[0].id | doi:10.1161/circgen.119.002507 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S4210202128 |
| locations[0].source.issn | 2574-8300 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | False |
| locations[0].source.issn_l | 2574-8300 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | False |
| locations[0].source.display_name | Circulation Genomic and Precision Medicine |
| locations[0].source.host_organization | https://openalex.org/P4310318547 |
| locations[0].source.host_organization_name | Wolters Kluwer |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310318547 |
| locations[0].source.host_organization_lineage_names | Wolters Kluwer |
| locations[0].license | cc-by |
| locations[0].pdf_url | https://www.ahajournals.org/doi/pdf/10.1161/CIRCGEN.119.002507 |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | https://openalex.org/licenses/cc-by |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | Circulation: Genomic and Precision Medicine |
| locations[0].landing_page_url | https://doi.org/10.1161/circgen.119.002507 |
| locations[1].id | pmid:31461301 |
| locations[1].is_oa | False |
| locations[1].source.id | https://openalex.org/S4306525036 |
| locations[1].source.issn | |
| locations[1].source.type | repository |
| locations[1].source.is_oa | False |
| locations[1].source.issn_l | |
| locations[1].source.is_core | False |
| locations[1].source.is_in_doaj | False |
| locations[1].source.display_name | PubMed |
| locations[1].source.host_organization | https://openalex.org/I1299303238 |
| locations[1].source.host_organization_name | National Institutes of Health |
| locations[1].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[1].license | |
| locations[1].pdf_url | |
| locations[1].version | publishedVersion |
| locations[1].raw_type | |
| locations[1].license_id | |
| locations[1].is_accepted | True |
| locations[1].is_published | True |
| locations[1].raw_source_name | Circulation. Genomic and precision medicine |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/31461301 |
| locations[2].id | pmh:eur:oai:pure.eur.nl:publications/07eca483-9917-4249-9019-9ec1ed061880 |
| locations[2].is_oa | False |
| locations[2].source.id | https://openalex.org/S4306401843 |
| locations[2].source.issn | |
| locations[2].source.type | repository |
| locations[2].source.is_oa | False |
| locations[2].source.issn_l | |
| locations[2].source.is_core | False |
| locations[2].source.is_in_doaj | False |
| locations[2].source.display_name | Data Archiving and Networked Services (DANS) |
| locations[2].source.host_organization | https://openalex.org/I1322597698 |
| locations[2].source.host_organization_name | Royal Netherlands Academy of Arts and Sciences |
| locations[2].source.host_organization_lineage | https://openalex.org/I1322597698 |
| locations[2].license | |
| locations[2].pdf_url | |
| locations[2].version | submittedVersion |
| locations[2].raw_type | info:eu-repo/semantics/article |
| locations[2].license_id | |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | Circulation-Genomic and Precision Medicine, 12(9), 397 - 406. Lippincott Williams & Wilkins |
| locations[2].landing_page_url | https://pure.eur.nl/en/publications/07eca483-9917-4249-9019-9ec1ed061880 |
| locations[3].id | pmh:oai:pubmedcentral.nih.gov:7205403 |
| locations[3].is_oa | True |
| locations[3].source.id | https://openalex.org/S2764455111 |
| locations[3].source.issn | |
| locations[3].source.type | repository |
| locations[3].source.is_oa | False |
| locations[3].source.issn_l | |
| locations[3].source.is_core | False |
| locations[3].source.is_in_doaj | False |
| locations[3].source.display_name | PubMed Central |
| locations[3].source.host_organization | https://openalex.org/I1299303238 |
| locations[3].source.host_organization_name | National Institutes of Health |
| locations[3].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[3].license | other-oa |
| locations[3].pdf_url | |
| locations[3].version | submittedVersion |
| locations[3].raw_type | Text |
| locations[3].license_id | https://openalex.org/licenses/other-oa |
| locations[3].is_accepted | False |
| locations[3].is_published | False |
| locations[3].raw_source_name | Circ Genom Precis Med |
| locations[3].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/7205403 |
| locations[4].id | pmh:rug:oai:pure.rug.nl:publications/dcaaa330-cad0-4351-a67f-4bd69e582af1 |
| locations[4].is_oa | False |
| locations[4].source.id | https://openalex.org/S4306401843 |
| locations[4].source.issn | |
| locations[4].source.type | repository |
| locations[4].source.is_oa | False |
| locations[4].source.issn_l | |
| locations[4].source.is_core | False |
| locations[4].source.is_in_doaj | False |
| locations[4].source.display_name | Data Archiving and Networked Services (DANS) |
| locations[4].source.host_organization | https://openalex.org/I1322597698 |
| locations[4].source.host_organization_name | Royal Netherlands Academy of Arts and Sciences |
| locations[4].source.host_organization_lineage | https://openalex.org/I1322597698 |
| locations[4].license | |
| locations[4].pdf_url | |
| locations[4].version | submittedVersion |
| locations[4].raw_type | info:eu-repo/semantics/article |
| locations[4].license_id | |
| locations[4].is_accepted | False |
| locations[4].is_published | False |
| locations[4].raw_source_name | Circulation-Genomic and precision medicine, 12(9), 397 - 406. LIPPINCOTT WILLIAMS & WILKINS |
| locations[4].landing_page_url | https://www.rug.nl/research/portal/en/publications/biallelic-variants-in-asna1-encoding-a-cytosolic-targeting-factor-of-tailanchored-proteins-cause-rapidly-progressive-pediatric-cardiomyopathy(dcaaa330-cad0-4351-a67f-4bd69e582af1).html |
| locations[5].id | pmh:rug:oai:pure.rug.nl:publications/fd21abed-0fdd-4128-aeec-1d03ed3fb370 |
| locations[5].is_oa | True |
| locations[5].source.id | https://openalex.org/S4306401843 |
| locations[5].source.issn | |
| locations[5].source.type | repository |
| locations[5].source.is_oa | False |
| locations[5].source.issn_l | |
| locations[5].source.is_core | False |
| locations[5].source.is_in_doaj | False |
| locations[5].source.display_name | Data Archiving and Networked Services (DANS) |
| locations[5].source.host_organization | https://openalex.org/I1322597698 |
| locations[5].source.host_organization_name | Royal Netherlands Academy of Arts and Sciences |
| locations[5].source.host_organization_lineage | https://openalex.org/I1322597698 |
| locations[5].license | cc-by |
| locations[5].pdf_url | |
| locations[5].version | submittedVersion |
| locations[5].raw_type | info:eu-repo/semantics/article |
| locations[5].license_id | https://openalex.org/licenses/cc-by |
| locations[5].is_accepted | False |
| locations[5].is_published | False |
| locations[5].raw_source_name | Circulation. Genomic and precision medicine, 12(9), 397 - 406. LIPPINCOTT WILLIAMS & WILKINS |
| locations[5].landing_page_url | https://research.rug.nl/en/publications/fd21abed-0fdd-4128-aeec-1d03ed3fb370 |
| locations[6].id | pmh:umcu:oai:dspace.library.uu.nl:1874/391702 |
| locations[6].is_oa | False |
| locations[6].source.id | https://openalex.org/S4306401843 |
| locations[6].source.issn | |
| locations[6].source.type | repository |
| locations[6].source.is_oa | False |
| locations[6].source.issn_l | |
| locations[6].source.is_core | False |
| locations[6].source.is_in_doaj | False |
| locations[6].source.display_name | Data Archiving and Networked Services (DANS) |
| locations[6].source.host_organization | https://openalex.org/I1322597698 |
| locations[6].source.host_organization_name | Royal Netherlands Academy of Arts and Sciences |
| locations[6].source.host_organization_lineage | https://openalex.org/I1322597698 |
| locations[6].license | |
| locations[6].pdf_url | |
| locations[6].version | submittedVersion |
| locations[6].raw_type | info:eu-repo/semantics/article |
| locations[6].license_id | |
| locations[6].is_accepted | False |
| locations[6].is_published | False |
| locations[6].raw_source_name | Circulation. Genomic and precision medicine, 12(9), 397. Lippincott Williams and Wilkins Ltd. |
| locations[6].landing_page_url | https://dspace.library.uu.nl/handle/1874/391702 |
| indexed_in | crossref, pubmed |
| authorships[0].author.id | https://openalex.org/A5013591963 |
| authorships[0].author.orcid | https://orcid.org/0000-0002-0340-3433 |
| authorships[0].author.display_name | Judith M.A. Verhagen |
| authorships[0].affiliations[0].raw_affiliation_string | Judith M.A. Verhagen Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Judith M.A. Verhagen |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | Judith M.A. Verhagen Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[1].author.id | https://openalex.org/A5057101289 |
| authorships[1].author.orcid | |
| authorships[1].author.display_name | Myrthe van den Born |
| authorships[1].countries | NL |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[1].affiliations[0].raw_affiliation_string | Myrthe van den Born Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[1].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[1].institutions[0].ror | https://ror.org/018906e22 |
| authorships[1].institutions[0].type | healthcare |
| authorships[1].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[1].institutions[0].country_code | NL |
| authorships[1].institutions[0].display_name | Erasmus MC |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Myrthe van den Born |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Myrthe van den Born Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[2].author.id | https://openalex.org/A5083642524 |
| authorships[2].author.orcid | |
| authorships[2].author.display_name | Herma C. van der Linde |
| authorships[2].countries | NL |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[2].affiliations[0].raw_affiliation_string | Herma C. van der Linde Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[2].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[2].institutions[0].ror | https://ror.org/018906e22 |
| authorships[2].institutions[0].type | healthcare |
| authorships[2].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[2].institutions[0].country_code | NL |
| authorships[2].institutions[0].display_name | Erasmus MC |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Herma C. van der Linde |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Herma C. van der Linde Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[3].author.id | https://openalex.org/A5103285288 |
| authorships[3].author.orcid | https://orcid.org/0000-0002-7279-4589 |
| authorships[3].author.display_name | Peter G. J. Nikkels |
| authorships[3].countries | NL |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I193662353, https://openalex.org/I3018483916 |
| authorships[3].affiliations[0].raw_affiliation_string | Peter G.J. Nikkels Department of Pathology (P.G.J.N.), University Medical Center Utrecht, Utrecht University, the Netherlands. |
| authorships[3].institutions[0].id | https://openalex.org/I3018483916 |
| authorships[3].institutions[0].ror | https://ror.org/0575yy874 |
| authorships[3].institutions[0].type | healthcare |
| authorships[3].institutions[0].lineage | https://openalex.org/I3018483916 |
| authorships[3].institutions[0].country_code | NL |
| authorships[3].institutions[0].display_name | University Medical Center Utrecht |
| authorships[3].institutions[1].id | https://openalex.org/I193662353 |
| authorships[3].institutions[1].ror | https://ror.org/04pp8hn57 |
| authorships[3].institutions[1].type | education |
| authorships[3].institutions[1].lineage | https://openalex.org/I193662353 |
| authorships[3].institutions[1].country_code | NL |
| authorships[3].institutions[1].display_name | Utrecht University |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Peter G.J. Nikkels |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Peter G.J. Nikkels Department of Pathology (P.G.J.N.), University Medical Center Utrecht, Utrecht University, the Netherlands. |
| authorships[4].author.id | https://openalex.org/A5040057938 |
| authorships[4].author.orcid | https://orcid.org/0000-0003-1437-214X |
| authorships[4].author.display_name | Robert M. Verdijk |
| authorships[4].countries | NL |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[4].affiliations[0].raw_affiliation_string | Rob M. Verdijk Department of Pathology (R.M.V.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[4].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[4].institutions[0].ror | https://ror.org/018906e22 |
| authorships[4].institutions[0].type | healthcare |
| authorships[4].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[4].institutions[0].country_code | NL |
| authorships[4].institutions[0].display_name | Erasmus MC |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Rob M. Verdijk |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Rob M. Verdijk Department of Pathology (R.M.V.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[5].author.id | https://openalex.org/A5064811956 |
| authorships[5].author.orcid | |
| authorships[5].author.display_name | Maryann H. Kivlen |
| authorships[5].countries | GB |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I170203145, https://openalex.org/I90344618 |
| authorships[5].affiliations[0].raw_affiliation_string | Maryann H. Kivlen Medical Research Council Laboratory of Molecular Biology, Cambridge Biomedical Campus, United Kingdom (M.H.K., R.S.H.). |
| authorships[5].institutions[0].id | https://openalex.org/I170203145 |
| authorships[5].institutions[0].ror | https://ror.org/00tw3jy02 |
| authorships[5].institutions[0].type | facility |
| authorships[5].institutions[0].lineage | https://openalex.org/I170203145, https://openalex.org/I4210087105, https://openalex.org/I90344618 |
| authorships[5].institutions[0].country_code | GB |
| authorships[5].institutions[0].display_name | MRC Laboratory of Molecular Biology |
| authorships[5].institutions[1].id | https://openalex.org/I90344618 |
| authorships[5].institutions[1].ror | https://ror.org/03x94j517 |
| authorships[5].institutions[1].type | government |
| authorships[5].institutions[1].lineage | https://openalex.org/I4210087105, https://openalex.org/I90344618 |
| authorships[5].institutions[1].country_code | GB |
| authorships[5].institutions[1].display_name | Medical Research Council |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Maryann H. Kivlen |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Maryann H. Kivlen Medical Research Council Laboratory of Molecular Biology, Cambridge Biomedical Campus, United Kingdom (M.H.K., R.S.H.). |
| authorships[6].author.id | https://openalex.org/A5075836243 |
| authorships[6].author.orcid | https://orcid.org/0000-0003-1174-9140 |
| authorships[6].author.display_name | Leontine van Unen |
| authorships[6].affiliations[0].raw_affiliation_string | Leontine M.A. van Unen Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Leontine M.A. van Unen |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Leontine M.A. van Unen Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[7].author.id | https://openalex.org/A5035526331 |
| authorships[7].author.orcid | |
| authorships[7].author.display_name | Annette F. Baas |
| authorships[7].countries | NL |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I193662353, https://openalex.org/I3018483916 |
| authorships[7].affiliations[0].raw_affiliation_string | Annette F. Baas Department of Genetics (A.F.B.), University Medical Center Utrecht, Utrecht University, the Netherlands. |
| authorships[7].institutions[0].id | https://openalex.org/I3018483916 |
| authorships[7].institutions[0].ror | https://ror.org/0575yy874 |
| authorships[7].institutions[0].type | healthcare |
| authorships[7].institutions[0].lineage | https://openalex.org/I3018483916 |
| authorships[7].institutions[0].country_code | NL |
| authorships[7].institutions[0].display_name | University Medical Center Utrecht |
| authorships[7].institutions[1].id | https://openalex.org/I193662353 |
| authorships[7].institutions[1].ror | https://ror.org/04pp8hn57 |
| authorships[7].institutions[1].type | education |
| authorships[7].institutions[1].lineage | https://openalex.org/I193662353 |
| authorships[7].institutions[1].country_code | NL |
| authorships[7].institutions[1].display_name | Utrecht University |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Annette F. Baas |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Annette F. Baas Department of Genetics (A.F.B.), University Medical Center Utrecht, Utrecht University, the Netherlands. |
| authorships[8].author.id | https://openalex.org/A5031931194 |
| authorships[8].author.orcid | https://orcid.org/0000-0002-5755-5774 |
| authorships[8].author.display_name | Henriëtte ter Heide |
| authorships[8].countries | NL |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I193662353, https://openalex.org/I3018483916 |
| authorships[8].affiliations[0].raw_affiliation_string | Henriette ter Heide Department of Pediatric Cardiology (H.t.H.), University Medical Center Utrecht, Utrecht University, the Netherlands. |
| authorships[8].institutions[0].id | https://openalex.org/I3018483916 |
| authorships[8].institutions[0].ror | https://ror.org/0575yy874 |
| authorships[8].institutions[0].type | healthcare |
| authorships[8].institutions[0].lineage | https://openalex.org/I3018483916 |
| authorships[8].institutions[0].country_code | NL |
| authorships[8].institutions[0].display_name | University Medical Center Utrecht |
| authorships[8].institutions[1].id | https://openalex.org/I193662353 |
| authorships[8].institutions[1].ror | https://ror.org/04pp8hn57 |
| authorships[8].institutions[1].type | education |
| authorships[8].institutions[1].lineage | https://openalex.org/I193662353 |
| authorships[8].institutions[1].country_code | NL |
| authorships[8].institutions[1].display_name | Utrecht University |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Henriette ter Heide |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Henriette ter Heide Department of Pediatric Cardiology (H.t.H.), University Medical Center Utrecht, Utrecht University, the Netherlands. |
| authorships[9].author.id | https://openalex.org/A5036973126 |
| authorships[9].author.orcid | |
| authorships[9].author.display_name | Lennie van Osch‐Gevers |
| authorships[9].countries | NL |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[9].affiliations[0].raw_affiliation_string | Lennie van Osch-Gevers Department of Pediatric Cardiology (L.v.O.-G.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[9].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[9].institutions[0].ror | https://ror.org/018906e22 |
| authorships[9].institutions[0].type | healthcare |
| authorships[9].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[9].institutions[0].country_code | NL |
| authorships[9].institutions[0].display_name | Erasmus MC |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Lennie van Osch-Gevers |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Lennie van Osch-Gevers Department of Pediatric Cardiology (L.v.O.-G.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[10].author.id | https://openalex.org/A5082153307 |
| authorships[10].author.orcid | |
| authorships[10].author.display_name | Marianne Hoogeveen‐Westerveld |
| authorships[10].countries | NL |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[10].affiliations[0].raw_affiliation_string | Marianne Hoogeveen-Westerveld Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[10].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[10].institutions[0].ror | https://ror.org/018906e22 |
| authorships[10].institutions[0].type | healthcare |
| authorships[10].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[10].institutions[0].country_code | NL |
| authorships[10].institutions[0].display_name | Erasmus MC |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Marianne Hoogeveen-Westerveld |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | Marianne Hoogeveen-Westerveld Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[11].author.id | https://openalex.org/A5060193567 |
| authorships[11].author.orcid | https://orcid.org/0000-0003-0461-9102 |
| authorships[11].author.display_name | Johanna C. Herkert |
| authorships[11].countries | NL |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I1334415907, https://openalex.org/I169381384 |
| authorships[11].affiliations[0].raw_affiliation_string | Johanna C. Herkert Department of Genetics, University of Groningen, University Medical Center Groningen, the Netherlands (J.C.H.). |
| authorships[11].institutions[0].id | https://openalex.org/I1334415907 |
| authorships[11].institutions[0].ror | https://ror.org/03cv38k47 |
| authorships[11].institutions[0].type | healthcare |
| authorships[11].institutions[0].lineage | https://openalex.org/I1334415907 |
| authorships[11].institutions[0].country_code | NL |
| authorships[11].institutions[0].display_name | University Medical Center Groningen |
| authorships[11].institutions[1].id | https://openalex.org/I169381384 |
| authorships[11].institutions[1].ror | https://ror.org/012p63287 |
| authorships[11].institutions[1].type | education |
| authorships[11].institutions[1].lineage | https://openalex.org/I169381384 |
| authorships[11].institutions[1].country_code | NL |
| authorships[11].institutions[1].display_name | University of Groningen |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Johanna C. Herkert |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | Johanna C. Herkert Department of Genetics, University of Groningen, University Medical Center Groningen, the Netherlands (J.C.H.). |
| authorships[12].author.id | https://openalex.org/A5079349535 |
| authorships[12].author.orcid | https://orcid.org/0000-0001-9544-1877 |
| authorships[12].author.display_name | Aida M. Bertoli‐Avella |
| authorships[12].countries | DE |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I4210138188 |
| authorships[12].affiliations[0].raw_affiliation_string | Aida M. Bertoli-Avella Centogene AG, Rostock (A.M.B.-A.). |
| authorships[12].institutions[0].id | https://openalex.org/I4210138188 |
| authorships[12].institutions[0].ror | https://ror.org/03ccx3r49 |
| authorships[12].institutions[0].type | company |
| authorships[12].institutions[0].lineage | https://openalex.org/I4210138188 |
| authorships[12].institutions[0].country_code | DE |
| authorships[12].institutions[0].display_name | Centogene (Germany) |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | Aida M. Bertoli-Avella |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | Aida M. Bertoli-Avella Centogene AG, Rostock (A.M.B.-A.). |
| authorships[13].author.id | https://openalex.org/A5071175362 |
| authorships[13].author.orcid | |
| authorships[13].author.display_name | Marjon A. van Slegtenhorst |
| authorships[13].countries | NL |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[13].affiliations[0].raw_affiliation_string | Marjon A. van Slegtenhorst Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[13].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[13].institutions[0].ror | https://ror.org/018906e22 |
| authorships[13].institutions[0].type | healthcare |
| authorships[13].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[13].institutions[0].country_code | NL |
| authorships[13].institutions[0].display_name | Erasmus MC |
| authorships[13].author_position | middle |
| authorships[13].raw_author_name | Marjon A. van Slegtenhorst |
| authorships[13].is_corresponding | False |
| authorships[13].raw_affiliation_strings | Marjon A. van Slegtenhorst Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[14].author.id | https://openalex.org/A5029677862 |
| authorships[14].author.orcid | |
| authorships[14].author.display_name | Marja W. Wessels |
| authorships[14].countries | NL |
| authorships[14].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[14].affiliations[0].raw_affiliation_string | Marja W. Wessels Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[14].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[14].institutions[0].ror | https://ror.org/018906e22 |
| authorships[14].institutions[0].type | healthcare |
| authorships[14].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[14].institutions[0].country_code | NL |
| authorships[14].institutions[0].display_name | Erasmus MC |
| authorships[14].author_position | middle |
| authorships[14].raw_author_name | Marja W. Wessels |
| authorships[14].is_corresponding | False |
| authorships[14].raw_affiliation_strings | Marja W. Wessels Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[15].author.id | https://openalex.org/A5109212186 |
| authorships[15].author.orcid | |
| authorships[15].author.display_name | Frans W. Verheijen |
| authorships[15].countries | NL |
| authorships[15].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[15].affiliations[0].raw_affiliation_string | Frans W. Verheijen Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[15].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[15].institutions[0].ror | https://ror.org/018906e22 |
| authorships[15].institutions[0].type | healthcare |
| authorships[15].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[15].institutions[0].country_code | NL |
| authorships[15].institutions[0].display_name | Erasmus MC |
| authorships[15].author_position | middle |
| authorships[15].raw_author_name | Frans W. Verheijen |
| authorships[15].is_corresponding | False |
| authorships[15].raw_affiliation_strings | Frans W. Verheijen Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[16].author.id | https://openalex.org/A5087801512 |
| authorships[16].author.orcid | https://orcid.org/0000-0001-6046-1077 |
| authorships[16].author.display_name | David Hassel |
| authorships[16].countries | DE |
| authorships[16].affiliations[0].institution_ids | https://openalex.org/I223822909, https://openalex.org/I2802164966 |
| authorships[16].affiliations[0].raw_affiliation_string | David Hassel Department of Medicine III, University Hospital Heidelberg, Germany (D.H.). |
| authorships[16].institutions[0].id | https://openalex.org/I223822909 |
| authorships[16].institutions[0].ror | https://ror.org/038t36y30 |
| authorships[16].institutions[0].type | education |
| authorships[16].institutions[0].lineage | https://openalex.org/I223822909 |
| authorships[16].institutions[0].country_code | DE |
| authorships[16].institutions[0].display_name | Heidelberg University |
| authorships[16].institutions[1].id | https://openalex.org/I2802164966 |
| authorships[16].institutions[1].ror | https://ror.org/013czdx64 |
| authorships[16].institutions[1].type | healthcare |
| authorships[16].institutions[1].lineage | https://openalex.org/I2802164966 |
| authorships[16].institutions[1].country_code | DE |
| authorships[16].institutions[1].display_name | University Hospital Heidelberg |
| authorships[16].author_position | middle |
| authorships[16].raw_author_name | David Hassel |
| authorships[16].is_corresponding | False |
| authorships[16].raw_affiliation_strings | David Hassel Department of Medicine III, University Hospital Heidelberg, Germany (D.H.). |
| authorships[17].author.id | https://openalex.org/A5039909670 |
| authorships[17].author.orcid | https://orcid.org/0000-0001-7498-3829 |
| authorships[17].author.display_name | Robert M.W. Hofstra |
| authorships[17].countries | NL |
| authorships[17].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[17].affiliations[0].raw_affiliation_string | Robert M.W. Hofstra Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[17].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[17].institutions[0].ror | https://ror.org/018906e22 |
| authorships[17].institutions[0].type | healthcare |
| authorships[17].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[17].institutions[0].country_code | NL |
| authorships[17].institutions[0].display_name | Erasmus MC |
| authorships[17].author_position | middle |
| authorships[17].raw_author_name | Robert M.W. Hofstra |
| authorships[17].is_corresponding | False |
| authorships[17].raw_affiliation_strings | Robert M.W. Hofstra Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[18].author.id | https://openalex.org/A5007776918 |
| authorships[18].author.orcid | https://orcid.org/0000-0001-8338-852X |
| authorships[18].author.display_name | Ramanujan S. Hegde |
| authorships[18].countries | GB |
| authorships[18].affiliations[0].institution_ids | https://openalex.org/I170203145, https://openalex.org/I90344618 |
| authorships[18].affiliations[0].raw_affiliation_string | Ramanujan S. Hegde Medical Research Council Laboratory of Molecular Biology, Cambridge Biomedical Campus, United Kingdom (M.H.K., R.S.H.). |
| authorships[18].institutions[0].id | https://openalex.org/I170203145 |
| authorships[18].institutions[0].ror | https://ror.org/00tw3jy02 |
| authorships[18].institutions[0].type | facility |
| authorships[18].institutions[0].lineage | https://openalex.org/I170203145, https://openalex.org/I4210087105, https://openalex.org/I90344618 |
| authorships[18].institutions[0].country_code | GB |
| authorships[18].institutions[0].display_name | MRC Laboratory of Molecular Biology |
| authorships[18].institutions[1].id | https://openalex.org/I90344618 |
| authorships[18].institutions[1].ror | https://ror.org/03x94j517 |
| authorships[18].institutions[1].type | government |
| authorships[18].institutions[1].lineage | https://openalex.org/I4210087105, https://openalex.org/I90344618 |
| authorships[18].institutions[1].country_code | GB |
| authorships[18].institutions[1].display_name | Medical Research Council |
| authorships[18].author_position | middle |
| authorships[18].raw_author_name | Ramanujan S. Hegde |
| authorships[18].is_corresponding | False |
| authorships[18].raw_affiliation_strings | Ramanujan S. Hegde Medical Research Council Laboratory of Molecular Biology, Cambridge Biomedical Campus, United Kingdom (M.H.K., R.S.H.). |
| authorships[19].author.id | https://openalex.org/A5072868409 |
| authorships[19].author.orcid | https://orcid.org/0000-0001-9821-8398 |
| authorships[19].author.display_name | Peter M. van Hasselt |
| authorships[19].countries | NL |
| authorships[19].affiliations[0].institution_ids | https://openalex.org/I193662353, https://openalex.org/I3018483916 |
| authorships[19].affiliations[0].raw_affiliation_string | Peter M. van Hasselt Department of Pediatrics (P.M.v.H.), University Medical Center Utrecht, Utrecht University, the Netherlands. |
| authorships[19].institutions[0].id | https://openalex.org/I3018483916 |
| authorships[19].institutions[0].ror | https://ror.org/0575yy874 |
| authorships[19].institutions[0].type | healthcare |
| authorships[19].institutions[0].lineage | https://openalex.org/I3018483916 |
| authorships[19].institutions[0].country_code | NL |
| authorships[19].institutions[0].display_name | University Medical Center Utrecht |
| authorships[19].institutions[1].id | https://openalex.org/I193662353 |
| authorships[19].institutions[1].ror | https://ror.org/04pp8hn57 |
| authorships[19].institutions[1].type | education |
| authorships[19].institutions[1].lineage | https://openalex.org/I193662353 |
| authorships[19].institutions[1].country_code | NL |
| authorships[19].institutions[1].display_name | Utrecht University |
| authorships[19].author_position | middle |
| authorships[19].raw_author_name | Peter M. van Hasselt |
| authorships[19].is_corresponding | False |
| authorships[19].raw_affiliation_strings | Peter M. van Hasselt Department of Pediatrics (P.M.v.H.), University Medical Center Utrecht, Utrecht University, the Netherlands. |
| authorships[20].author.id | https://openalex.org/A5017407479 |
| authorships[20].author.orcid | https://orcid.org/0000-0002-2175-8713 |
| authorships[20].author.display_name | Tjakko J. van Ham |
| authorships[20].countries | NL |
| authorships[20].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[20].affiliations[0].raw_affiliation_string | Tjakko J. van Ham Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[20].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[20].institutions[0].ror | https://ror.org/018906e22 |
| authorships[20].institutions[0].type | healthcare |
| authorships[20].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[20].institutions[0].country_code | NL |
| authorships[20].institutions[0].display_name | Erasmus MC |
| authorships[20].author_position | middle |
| authorships[20].raw_author_name | Tjakko J. van Ham |
| authorships[20].is_corresponding | False |
| authorships[20].raw_affiliation_strings | Tjakko J. van Ham Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[21].author.id | https://openalex.org/A5078255826 |
| authorships[21].author.orcid | https://orcid.org/0000-0002-2523-1230 |
| authorships[21].author.display_name | Ingrid M.B.H. van de Laar |
| authorships[21].countries | NL |
| authorships[21].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[21].affiliations[0].raw_affiliation_string | Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| authorships[21].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[21].institutions[0].ror | https://ror.org/018906e22 |
| authorships[21].institutions[0].type | healthcare |
| authorships[21].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[21].institutions[0].country_code | NL |
| authorships[21].institutions[0].display_name | Erasmus MC |
| authorships[21].author_position | last |
| authorships[21].raw_author_name | Ingrid M.B.H. van de Laar |
| authorships[21].is_corresponding | False |
| authorships[21].raw_affiliation_strings | Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam. |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://www.ahajournals.org/doi/pdf/10.1161/CIRCGEN.119.002507 |
| open_access.oa_status | hybrid |
| open_access.any_repository_has_fulltext | False |
| created_date | 2019-09-12T00:00:00 |
| display_name | Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy |
| has_fulltext | False |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T10882 |
| primary_topic.field.id | https://openalex.org/fields/27 |
| primary_topic.field.display_name | Medicine |
| primary_topic.score | 0.9987999796867371 |
| primary_topic.domain.id | https://openalex.org/domains/4 |
| primary_topic.domain.display_name | Health Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/2705 |
| primary_topic.subfield.display_name | Cardiology and Cardiovascular Medicine |
| primary_topic.display_name | Cardiomyopathy and Myosin Studies |
| related_works | https://openalex.org/W2093932542, https://openalex.org/W2043256480, https://openalex.org/W2172231381, https://openalex.org/W1983406990, https://openalex.org/W2106924416, https://openalex.org/W2772505697, https://openalex.org/W3083501552, https://openalex.org/W2400191746, https://openalex.org/W2484239316, https://openalex.org/W3024198590 |
| cited_by_count | 11 |
| counts_by_year[0].year | 2024 |
| counts_by_year[0].cited_by_count | 1 |
| counts_by_year[1].year | 2023 |
| counts_by_year[1].cited_by_count | 4 |
| counts_by_year[2].year | 2022 |
| counts_by_year[2].cited_by_count | 4 |
| counts_by_year[3].year | 2021 |
| counts_by_year[3].cited_by_count | 1 |
| counts_by_year[4].year | 2020 |
| counts_by_year[4].cited_by_count | 1 |
| locations_count | 7 |
| best_oa_location.id | doi:10.1161/circgen.119.002507 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S4210202128 |
| best_oa_location.source.issn | 2574-8300 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | False |
| best_oa_location.source.issn_l | 2574-8300 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | Circulation Genomic and Precision Medicine |
| best_oa_location.source.host_organization | https://openalex.org/P4310318547 |
| best_oa_location.source.host_organization_name | Wolters Kluwer |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310318547 |
| best_oa_location.source.host_organization_lineage_names | Wolters Kluwer |
| best_oa_location.license | cc-by |
| best_oa_location.pdf_url | https://www.ahajournals.org/doi/pdf/10.1161/CIRCGEN.119.002507 |
| 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 | Circulation: Genomic and Precision Medicine |
| best_oa_location.landing_page_url | https://doi.org/10.1161/circgen.119.002507 |
| primary_location.id | doi:10.1161/circgen.119.002507 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S4210202128 |
| primary_location.source.issn | 2574-8300 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | 2574-8300 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | Circulation Genomic and Precision Medicine |
| primary_location.source.host_organization | https://openalex.org/P4310318547 |
| primary_location.source.host_organization_name | Wolters Kluwer |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310318547 |
| primary_location.source.host_organization_lineage_names | Wolters Kluwer |
| primary_location.license | cc-by |
| primary_location.pdf_url | https://www.ahajournals.org/doi/pdf/10.1161/CIRCGEN.119.002507 |
| 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 | Circulation: Genomic and Precision Medicine |
| primary_location.landing_page_url | https://doi.org/10.1161/circgen.119.002507 |
| publication_date | 2019-09-01 |
| publication_year | 2019 |
| referenced_works | https://openalex.org/W2256541296, https://openalex.org/W2079974165, https://openalex.org/W4211021766, https://openalex.org/W2032026564, https://openalex.org/W2898679697, https://openalex.org/W2743195298, https://openalex.org/W2794295721, https://openalex.org/W2169755861, https://openalex.org/W2053673239, https://openalex.org/W1996609836, https://openalex.org/W1996758831, https://openalex.org/W1526701559, https://openalex.org/W2009998954, https://openalex.org/W2074752759, https://openalex.org/W2769247540, https://openalex.org/W1973185212, https://openalex.org/W2142453541, https://openalex.org/W2016498245, https://openalex.org/W2575766838, https://openalex.org/W2009476233, https://openalex.org/W2106728955, https://openalex.org/W2331156693, https://openalex.org/W2282178641, https://openalex.org/W2009292409, https://openalex.org/W2075245425, https://openalex.org/W2146665756, https://openalex.org/W2465275952, https://openalex.org/W2181024452, https://openalex.org/W2485566656, https://openalex.org/W2774806607, https://openalex.org/W2123235879, https://openalex.org/W2756726710, https://openalex.org/W1556198965 |
| referenced_works_count | 33 |
| abstract_inverted_index.a | 4, 38, 56, 132, 160, 231 |
| abstract_inverted_index.In | 200 |
| abstract_inverted_index.We | 92 |
| abstract_inverted_index.an | 79, 110 |
| abstract_inverted_index.as | 179, 181 |
| abstract_inverted_index.at | 165 |
| abstract_inverted_index.by | 78 |
| abstract_inverted_index.in | 37, 55, 67, 74, 80, 89, 97, 131, 145, 159, 190, 193, 218, 241 |
| abstract_inverted_index.is | 127 |
| abstract_inverted_index.of | 10, 22, 26, 41, 58, 117, 188, 206, 234 |
| abstract_inverted_index.on | 123, 154 |
| abstract_inverted_index.to | 48, 129, 162, 176, 202, 211 |
| abstract_inverted_index.163 | 167 |
| abstract_inverted_index.Our | 227 |
| abstract_inverted_index.The | 120, 151 |
| abstract_inverted_index.and | 6, 18, 65, 86, 137, 148, 197, 224, 245 |
| abstract_inverted_index.are | 3 |
| abstract_inverted_index.for | 50, 113 |
| abstract_inverted_index.has | 29 |
| abstract_inverted_index.the | 23, 32, 51, 98, 124, 140, 155, 235 |
| abstract_inverted_index.was | 46, 72 |
| abstract_inverted_index.Loss | 187 |
| abstract_inverted_index.gene | 102 |
| abstract_inverted_index.high | 16 |
| abstract_inverted_index.less | 182 |
| abstract_inverted_index.mRNA | 209 |
| abstract_inverted_index.pair | 57 |
| abstract_inverted_index.role | 233 |
| abstract_inverted_index.skin | 149 |
| abstract_inverted_index.stop | 134 |
| abstract_inverted_index.that | 172 |
| abstract_inverted_index.this | 173, 213 |
| abstract_inverted_index.used | 47 |
| abstract_inverted_index.well | 180 |
| abstract_inverted_index.with | 15, 60 |
| abstract_inverted_index.(arsA | 103 |
| abstract_inverted_index.ASNA1 | 101, 219 |
| abstract_inverted_index.Exome | 44 |
| abstract_inverted_index.asna1 | 189 |
| abstract_inverted_index.assay | 85 |
| abstract_inverted_index.basis | 25 |
| abstract_inverted_index.cause | 34, 220 |
| abstract_inverted_index.codon | 135 |
| abstract_inverted_index.death | 66 |
| abstract_inverted_index.early | 68, 198, 225 |
| abstract_inverted_index.group | 9 |
| abstract_inverted_index.heart | 11 |
| abstract_inverted_index.leads | 175 |
| abstract_inverted_index.mRNA, | 204 |
| abstract_inverted_index.point | 229 |
| abstract_inverted_index.vitro | 81 |
| abstract_inverted_index.which | 108 |
| abstract_inverted_index.ATPase | 111 |
| abstract_inverted_index.allele | 126, 157 |
| abstract_inverted_index.cases. | 42 |
| abstract_inverted_index.death. | 226 |
| abstract_inverted_index.defect | 54 |
| abstract_inverted_index.either | 207 |
| abstract_inverted_index.failed | 210 |
| abstract_inverted_index.highly | 99 |
| abstract_inverted_index.likely | 138 |
| abstract_inverted_index.muscle | 12 |
| abstract_inverted_index.mutant | 208 |
| abstract_inverted_index.rescue | 212 |
| abstract_inverted_index.result | 130 |
| abstract_inverted_index.screen | 49 |
| abstract_inverted_index.severe | 221 |
| abstract_inverted_index.showed | 171 |
| abstract_inverted_index.tissue | 147 |
| abstract_inverted_index.toward | 230 |
| abstract_inverted_index.valine | 161 |
| abstract_inverted_index.Protein | 70 |
| abstract_inverted_index.alanine | 163 |
| abstract_inverted_index.cardiac | 195, 243 |
| abstract_inverted_index.dilated | 63 |
| abstract_inverted_index.elusive | 36 |
| abstract_inverted_index.encodes | 109 |
| abstract_inverted_index.genetic | 24, 53 |
| abstract_inverted_index.pathway | 240 |
| abstract_inverted_index.patient | 75 |
| abstract_inverted_index.protein | 83, 142, 177, 185, 238 |
| abstract_inverted_index.rapidly | 61 |
| abstract_inverted_index.reduced | 194 |
| abstract_inverted_index.remains | 35 |
| abstract_inverted_index.residue | 166 |
| abstract_inverted_index.results | 158 |
| abstract_inverted_index.studies | 170 |
| abstract_inverted_index.variant | 122, 153, 174 |
| abstract_inverted_index.Although | 20 |
| abstract_inverted_index.Methods: | 43 |
| abstract_inverted_index.Results: | 91 |
| abstract_inverted_index.analyses | 88 |
| abstract_inverted_index.arsenite | 104 |
| abstract_inverted_index.assessed | 73 |
| abstract_inverted_index.compound | 94 |
| abstract_inverted_index.contrast | 201 |
| abstract_inverted_index.critical | 232 |
| abstract_inverted_index.disease. | 246 |
| abstract_inverted_index.explains | 139 |
| abstract_inverted_index.findings | 228 |
| abstract_inverted_index.followed | 77 |
| abstract_inverted_index.function | 244 |
| abstract_inverted_index.improved | 30 |
| abstract_inverted_index.infancy. | 69 |
| abstract_inverted_index.maternal | 156 |
| abstract_inverted_index.membrane | 115, 237 |
| abstract_inverted_index.observed | 144 |
| abstract_inverted_index.paternal | 125 |
| abstract_inverted_index.required | 112 |
| abstract_inverted_index.resulted | 192 |
| abstract_inverted_index.samples, | 76 |
| abstract_inverted_index.siblings | 59 |
| abstract_inverted_index.variants | 96, 217 |
| abstract_inverted_index.Biallelic | 216 |
| abstract_inverted_index.Pediatric | 1 |
| abstract_inverted_index.causative | 52 |
| abstract_inverted_index.conserved | 100 |
| abstract_inverted_index.decreased | 141 |
| abstract_inverted_index.disorders | 13 |
| abstract_inverted_index.effective | 183 |
| abstract_inverted_index.homolog), | 107 |
| abstract_inverted_index.injection | 205 |
| abstract_inverted_index.insertion | 84, 116, 239 |
| abstract_inverted_index.knowledge | 21 |
| abstract_inverted_index.morbidity | 17 |
| abstract_inverted_index.pediatric | 27, 222 |
| abstract_inverted_index.predicted | 128 |
| abstract_inverted_index.premature | 133 |
| abstract_inverted_index.proteins. | 119 |
| abstract_inverted_index.wild-type | 203 |
| abstract_inverted_index.zebrafish | 191 |
| abstract_inverted_index.Functional | 169 |
| abstract_inverted_index.associated | 14 |
| abstract_inverted_index.clinically | 5 |
| abstract_inverted_index.expression | 71, 143 |
| abstract_inverted_index.functional | 87 |
| abstract_inverted_index.identified | 93 |
| abstract_inverted_index.insertion. | 186 |
| abstract_inverted_index.lethality. | 199 |
| abstract_inverted_index.misfolding | 178 |
| abstract_inverted_index.mortality. | 19 |
| abstract_inverted_index.myocardial | 146 |
| abstract_inverted_index.phenotype. | 214 |
| abstract_inverted_index.proportion | 40 |
| abstract_inverted_index.sequencing | 45 |
| abstract_inverted_index.underlying | 33 |
| abstract_inverted_index.vertebrate | 242 |
| abstract_inverted_index.zebrafish. | 90 |
| abstract_inverted_index.Background: | 0 |
| abstract_inverted_index.c.488T>C | 152 |
| abstract_inverted_index.c.913C>T | 121 |
| abstract_inverted_index.genetically | 7 |
| abstract_inverted_index.progressive | 62 |
| abstract_inverted_index.substantial | 39 |
| abstract_inverted_index.ATP-binding, | 106 |
| abstract_inverted_index.Conclusions: | 215 |
| abstract_inverted_index.fibroblasts. | 150 |
| abstract_inverted_index.heterozygous | 95 |
| abstract_inverted_index.p.(Gln305*), | 136 |
| abstract_inverted_index.substitution | 164 |
| abstract_inverted_index.transporter, | 105 |
| abstract_inverted_index.considerably, | 31 |
| abstract_inverted_index.contractility | 196 |
| abstract_inverted_index.heterogeneous | 8 |
| abstract_inverted_index.tail-anchored | 82, 118, 184, 236 |
| abstract_inverted_index.(p.Val163Ala). | 168 |
| abstract_inverted_index.cardiomyopathy | 28, 64, 223 |
| abstract_inverted_index.cardiomyopathies | 2 |
| abstract_inverted_index.post-translational | 114 |
| cited_by_percentile_year.max | 97 |
| cited_by_percentile_year.min | 89 |
| countries_distinct_count | 3 |
| institutions_distinct_count | 22 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.8600000143051147 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.78314202 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |