Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome Article Swipe
Marcello Scala
,
Elisa De Grandis
,
Giulia Nobile
,
Michele Iacomino
,
Francesca Madia
,
Valeria Capra
,
Lino Nobili
,
Federico Zara
,
Pasquale Striano
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1093/brain/awac323
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1093/brain/awac323
Related Topics
Concepts
Metadata
- Type
- letter
- Language
- en
- Landing Page
- https://doi.org/10.1093/brain/awac323
- https://academic.oup.com/brain/article-pdf/146/1/e1/48517549/awac323.pdf
- OA Status
- hybrid
- Cited By
- 2
- References
- 11
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4297613926
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4297613926Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1093/brain/awac323Digital Object Identifier
- Title
-
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndromeWork title
- Type
-
letterOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2022Year of publication
- Publication date
-
2022-09-07Full publication date if available
- Authors
-
Marcello Scala, Elisa De Grandis, Giulia Nobile, Michele Iacomino, Francesca Madia, Valeria Capra, Lino Nobili, Federico Zara, Pasquale StrianoList of authors in order
- Landing page
-
https://doi.org/10.1093/brain/awac323Publisher landing page
- PDF URL
-
https://academic.oup.com/brain/article-pdf/146/1/e1/48517549/awac323.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://academic.oup.com/brain/article-pdf/146/1/e1/48517549/awac323.pdfDirect OA link when available
- Concepts
-
Tourette syndrome, Phenotype, Medicine, Neuroscience, Genetics, Psychology, Psychiatry, Biology, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
2Total citation count in OpenAlex
- Citations by year (recent)
-
2024: 1, 2023: 1Per-year citation counts (last 5 years)
- References (count)
-
11Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4297613926 |
|---|---|
| doi | https://doi.org/10.1093/brain/awac323 |
| ids.doi | https://doi.org/10.1093/brain/awac323 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/36068688 |
| ids.openalex | https://openalex.org/W4297613926 |
| fwci | 0.24613832 |
| mesh[0].qualifier_ui | |
| mesh[0].descriptor_ui | D006801 |
| mesh[0].is_major_topic | False |
| mesh[0].qualifier_name | |
| mesh[0].descriptor_name | Humans |
| mesh[1].qualifier_ui | Q000235 |
| mesh[1].descriptor_ui | D005879 |
| mesh[1].is_major_topic | True |
| mesh[1].qualifier_name | genetics |
| mesh[1].descriptor_name | Tourette Syndrome |
| mesh[2].qualifier_ui | Q000523 |
| mesh[2].descriptor_ui | D005879 |
| mesh[2].is_major_topic | True |
| mesh[2].qualifier_name | psychology |
| mesh[2].descriptor_name | Tourette Syndrome |
| mesh[3].qualifier_ui | |
| mesh[3].descriptor_ui | D010641 |
| mesh[3].is_major_topic | False |
| mesh[3].qualifier_name | |
| mesh[3].descriptor_name | Phenotype |
| mesh[4].qualifier_ui | |
| mesh[4].descriptor_ui | D009771 |
| mesh[4].is_major_topic | True |
| mesh[4].qualifier_name | |
| mesh[4].descriptor_name | Obsessive-Compulsive Disorder |
| mesh[5].qualifier_ui | |
| mesh[5].descriptor_ui | D006801 |
| mesh[5].is_major_topic | False |
| mesh[5].qualifier_name | |
| mesh[5].descriptor_name | Humans |
| mesh[6].qualifier_ui | Q000235 |
| mesh[6].descriptor_ui | D005879 |
| mesh[6].is_major_topic | True |
| mesh[6].qualifier_name | genetics |
| mesh[6].descriptor_name | Tourette Syndrome |
| mesh[7].qualifier_ui | Q000523 |
| mesh[7].descriptor_ui | D005879 |
| mesh[7].is_major_topic | True |
| mesh[7].qualifier_name | psychology |
| mesh[7].descriptor_name | Tourette Syndrome |
| mesh[8].qualifier_ui | |
| mesh[8].descriptor_ui | D010641 |
| mesh[8].is_major_topic | False |
| mesh[8].qualifier_name | |
| mesh[8].descriptor_name | Phenotype |
| mesh[9].qualifier_ui | |
| mesh[9].descriptor_ui | D009771 |
| mesh[9].is_major_topic | True |
| mesh[9].qualifier_name | |
| mesh[9].descriptor_name | Obsessive-Compulsive Disorder |
| type | letter |
| title | Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome |
| biblio.issue | 1 |
| biblio.volume | 146 |
| biblio.last_page | e4 |
| biblio.first_page | e1 |
| topics[0].id | https://openalex.org/T11677 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9962999820709229 |
| topics[0].domain.id | https://openalex.org/domains/1 |
| topics[0].domain.display_name | Life Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/1312 |
| topics[0].subfield.display_name | Molecular Biology |
| topics[0].display_name | Congenital heart defects research |
| topics[1].id | https://openalex.org/T11310 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9749000072479248 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1311 |
| topics[1].subfield.display_name | Genetics |
| topics[1].display_name | Connective tissue disorders research |
| topics[2].id | https://openalex.org/T13258 |
| topics[2].field.id | https://openalex.org/fields/28 |
| topics[2].field.display_name | Neuroscience |
| topics[2].score | 0.9645000100135803 |
| topics[2].domain.id | https://openalex.org/domains/1 |
| topics[2].domain.display_name | Life Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/2806 |
| topics[2].subfield.display_name | Developmental Neuroscience |
| topics[2].display_name | Williams Syndrome Research |
| is_xpac | False |
| apc_list.value | 3658 |
| apc_list.currency | GBP |
| apc_list.value_usd | 4486 |
| apc_paid.value | 3658 |
| apc_paid.currency | GBP |
| apc_paid.value_usd | 4486 |
| concepts[0].id | https://openalex.org/C2777026814 |
| concepts[0].level | 2 |
| concepts[0].score | 0.7004523873329163 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q191779 |
| concepts[0].display_name | Tourette syndrome |
| concepts[1].id | https://openalex.org/C127716648 |
| concepts[1].level | 3 |
| concepts[1].score | 0.5654857158660889 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q104053 |
| concepts[1].display_name | Phenotype |
| concepts[2].id | https://openalex.org/C71924100 |
| concepts[2].level | 0 |
| concepts[2].score | 0.4392828941345215 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[2].display_name | Medicine |
| concepts[3].id | https://openalex.org/C169760540 |
| concepts[3].level | 1 |
| concepts[3].score | 0.3853096067905426 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q207011 |
| concepts[3].display_name | Neuroscience |
| concepts[4].id | https://openalex.org/C54355233 |
| concepts[4].level | 1 |
| concepts[4].score | 0.37294358015060425 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[4].display_name | Genetics |
| concepts[5].id | https://openalex.org/C15744967 |
| concepts[5].level | 0 |
| concepts[5].score | 0.3188011050224304 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q9418 |
| concepts[5].display_name | Psychology |
| concepts[6].id | https://openalex.org/C118552586 |
| concepts[6].level | 1 |
| concepts[6].score | 0.30086997151374817 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q7867 |
| concepts[6].display_name | Psychiatry |
| concepts[7].id | https://openalex.org/C86803240 |
| concepts[7].level | 0 |
| concepts[7].score | 0.22738152742385864 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[7].display_name | Biology |
| concepts[8].id | https://openalex.org/C104317684 |
| concepts[8].level | 2 |
| concepts[8].score | 0.08760100603103638 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[8].display_name | Gene |
| keywords[0].id | https://openalex.org/keywords/tourette-syndrome |
| keywords[0].score | 0.7004523873329163 |
| keywords[0].display_name | Tourette syndrome |
| keywords[1].id | https://openalex.org/keywords/phenotype |
| keywords[1].score | 0.5654857158660889 |
| keywords[1].display_name | Phenotype |
| keywords[2].id | https://openalex.org/keywords/medicine |
| keywords[2].score | 0.4392828941345215 |
| keywords[2].display_name | Medicine |
| keywords[3].id | https://openalex.org/keywords/neuroscience |
| keywords[3].score | 0.3853096067905426 |
| keywords[3].display_name | Neuroscience |
| keywords[4].id | https://openalex.org/keywords/genetics |
| keywords[4].score | 0.37294358015060425 |
| keywords[4].display_name | Genetics |
| keywords[5].id | https://openalex.org/keywords/psychology |
| keywords[5].score | 0.3188011050224304 |
| keywords[5].display_name | Psychology |
| keywords[6].id | https://openalex.org/keywords/psychiatry |
| keywords[6].score | 0.30086997151374817 |
| keywords[6].display_name | Psychiatry |
| keywords[7].id | https://openalex.org/keywords/biology |
| keywords[7].score | 0.22738152742385864 |
| keywords[7].display_name | Biology |
| keywords[8].id | https://openalex.org/keywords/gene |
| keywords[8].score | 0.08760100603103638 |
| keywords[8].display_name | Gene |
| language | en |
| locations[0].id | doi:10.1093/brain/awac323 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S118357697 |
| locations[0].source.issn | 0006-8950, 1460-2156 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | False |
| locations[0].source.issn_l | 0006-8950 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | False |
| locations[0].source.display_name | Brain |
| locations[0].source.host_organization | https://openalex.org/P4310311648 |
| locations[0].source.host_organization_name | Oxford University Press |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310311648 |
| locations[0].license | cc-by-nc |
| locations[0].pdf_url | https://academic.oup.com/brain/article-pdf/146/1/e1/48517549/awac323.pdf |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | https://openalex.org/licenses/cc-by-nc |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | Brain |
| locations[0].landing_page_url | https://doi.org/10.1093/brain/awac323 |
| locations[1].id | pmid:36068688 |
| 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 | Brain : a journal of neurology |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/36068688 |
| locations[2].id | pmh:oai:pubmedcentral.nih.gov:9825546 |
| locations[2].is_oa | True |
| locations[2].source.id | https://openalex.org/S2764455111 |
| 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 | PubMed Central |
| locations[2].source.host_organization | https://openalex.org/I1299303238 |
| locations[2].source.host_organization_name | National Institutes of Health |
| locations[2].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[2].license | other-oa |
| locations[2].pdf_url | |
| locations[2].version | submittedVersion |
| locations[2].raw_type | Text |
| locations[2].license_id | https://openalex.org/licenses/other-oa |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | Brain |
| locations[2].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/9825546 |
| locations[3].id | pmh:oai:iris.unige.it:11567/1096178 |
| locations[3].is_oa | False |
| locations[3].source.id | https://openalex.org/S4377196291 |
| 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 | CINECA IRIS Institutial Research Information System (University of Genoa) |
| locations[3].source.host_organization | https://openalex.org/I83816512 |
| locations[3].source.host_organization_name | University of Genoa |
| locations[3].source.host_organization_lineage | https://openalex.org/I83816512 |
| locations[3].license | |
| locations[3].pdf_url | |
| locations[3].version | submittedVersion |
| locations[3].raw_type | info:eu-repo/semantics/article |
| locations[3].license_id | |
| locations[3].is_accepted | False |
| locations[3].is_published | False |
| locations[3].raw_source_name | |
| locations[3].landing_page_url | http://hdl.handle.net/11567/1096178 |
| indexed_in | crossref, pubmed |
| authorships[0].author.id | https://openalex.org/A5028146696 |
| authorships[0].author.orcid | https://orcid.org/0000-0003-2194-7239 |
| authorships[0].author.display_name | Marcello Scala |
| authorships[0].countries | IT |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I83816512 |
| authorships[0].affiliations[0].raw_affiliation_string | Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova , Genoa , Italy |
| authorships[0].affiliations[1].institution_ids | https://openalex.org/I2801463291 |
| authorships[0].affiliations[1].raw_affiliation_string | Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| authorships[0].institutions[0].id | https://openalex.org/I2801463291 |
| authorships[0].institutions[0].ror | https://ror.org/0424g0k78 |
| authorships[0].institutions[0].type | healthcare |
| authorships[0].institutions[0].lineage | https://openalex.org/I2801463291, https://openalex.org/I4210153126 |
| authorships[0].institutions[0].country_code | IT |
| authorships[0].institutions[0].display_name | Istituto Giannina Gaslini |
| authorships[0].institutions[1].id | https://openalex.org/I83816512 |
| authorships[0].institutions[1].ror | https://ror.org/0107c5v14 |
| authorships[0].institutions[1].type | education |
| authorships[0].institutions[1].lineage | https://openalex.org/I83816512 |
| authorships[0].institutions[1].country_code | IT |
| authorships[0].institutions[1].display_name | University of Genoa |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Marcello Scala |
| authorships[0].is_corresponding | True |
| authorships[0].raw_affiliation_strings | Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova , Genoa , Italy, Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| authorships[1].author.id | https://openalex.org/A5091749616 |
| authorships[1].author.orcid | https://orcid.org/0000-0002-9733-9216 |
| authorships[1].author.display_name | Elisa De Grandis |
| authorships[1].countries | IT |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I2801463291 |
| authorships[1].affiliations[0].raw_affiliation_string | Child Neuropsychiatric Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| authorships[1].institutions[0].id | https://openalex.org/I2801463291 |
| authorships[1].institutions[0].ror | https://ror.org/0424g0k78 |
| authorships[1].institutions[0].type | healthcare |
| authorships[1].institutions[0].lineage | https://openalex.org/I2801463291, https://openalex.org/I4210153126 |
| authorships[1].institutions[0].country_code | IT |
| authorships[1].institutions[0].display_name | Istituto Giannina Gaslini |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Elisa De Grandis |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Child Neuropsychiatric Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| authorships[2].author.id | https://openalex.org/A5030759519 |
| authorships[2].author.orcid | |
| authorships[2].author.display_name | Giulia Nobile |
| authorships[2].countries | IT |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I83816512 |
| authorships[2].affiliations[0].raw_affiliation_string | Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova , Genoa , Italy |
| authorships[2].institutions[0].id | https://openalex.org/I83816512 |
| authorships[2].institutions[0].ror | https://ror.org/0107c5v14 |
| authorships[2].institutions[0].type | education |
| authorships[2].institutions[0].lineage | https://openalex.org/I83816512 |
| authorships[2].institutions[0].country_code | IT |
| authorships[2].institutions[0].display_name | University of Genoa |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Giulia Nobile |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova , Genoa , Italy |
| authorships[3].author.id | https://openalex.org/A5046484201 |
| authorships[3].author.orcid | https://orcid.org/0000-0003-4788-9719 |
| authorships[3].author.display_name | Michele Iacomino |
| authorships[3].countries | IT |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I2801463291 |
| authorships[3].affiliations[0].raw_affiliation_string | Medical Genetics Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| authorships[3].institutions[0].id | https://openalex.org/I2801463291 |
| authorships[3].institutions[0].ror | https://ror.org/0424g0k78 |
| authorships[3].institutions[0].type | healthcare |
| authorships[3].institutions[0].lineage | https://openalex.org/I2801463291, https://openalex.org/I4210153126 |
| authorships[3].institutions[0].country_code | IT |
| authorships[3].institutions[0].display_name | Istituto Giannina Gaslini |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Michele Iacomino |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Medical Genetics Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| authorships[4].author.id | https://openalex.org/A5055067356 |
| authorships[4].author.orcid | https://orcid.org/0000-0002-7807-1322 |
| authorships[4].author.display_name | Francesca Madia |
| authorships[4].countries | IT |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I2801463291 |
| authorships[4].affiliations[0].raw_affiliation_string | Medical Genetics Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| authorships[4].institutions[0].id | https://openalex.org/I2801463291 |
| authorships[4].institutions[0].ror | https://ror.org/0424g0k78 |
| authorships[4].institutions[0].type | healthcare |
| authorships[4].institutions[0].lineage | https://openalex.org/I2801463291, https://openalex.org/I4210153126 |
| authorships[4].institutions[0].country_code | IT |
| authorships[4].institutions[0].display_name | Istituto Giannina Gaslini |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Francesca Madia |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Medical Genetics Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| authorships[5].author.id | https://openalex.org/A5030682695 |
| authorships[5].author.orcid | https://orcid.org/0000-0002-3097-0388 |
| authorships[5].author.display_name | Valeria Capra |
| authorships[5].countries | IT |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I2801463291 |
| authorships[5].affiliations[0].raw_affiliation_string | Medical Genetics Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| authorships[5].institutions[0].id | https://openalex.org/I2801463291 |
| authorships[5].institutions[0].ror | https://ror.org/0424g0k78 |
| authorships[5].institutions[0].type | healthcare |
| authorships[5].institutions[0].lineage | https://openalex.org/I2801463291, https://openalex.org/I4210153126 |
| authorships[5].institutions[0].country_code | IT |
| authorships[5].institutions[0].display_name | Istituto Giannina Gaslini |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Valeria Capra |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Medical Genetics Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| authorships[6].author.id | https://openalex.org/A5051710863 |
| authorships[6].author.orcid | https://orcid.org/0000-0001-9317-5405 |
| authorships[6].author.display_name | Lino Nobili |
| authorships[6].countries | IT |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I2801463291 |
| authorships[6].affiliations[0].raw_affiliation_string | Child Neuropsychiatric Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| authorships[6].institutions[0].id | https://openalex.org/I2801463291 |
| authorships[6].institutions[0].ror | https://ror.org/0424g0k78 |
| authorships[6].institutions[0].type | healthcare |
| authorships[6].institutions[0].lineage | https://openalex.org/I2801463291, https://openalex.org/I4210153126 |
| authorships[6].institutions[0].country_code | IT |
| authorships[6].institutions[0].display_name | Istituto Giannina Gaslini |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Lino Nobili |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Child Neuropsychiatric Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| authorships[7].author.id | https://openalex.org/A5055311132 |
| authorships[7].author.orcid | https://orcid.org/0000-0001-9744-5222 |
| authorships[7].author.display_name | Federico Zara |
| authorships[7].countries | IT |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I2801463291 |
| authorships[7].affiliations[0].raw_affiliation_string | Medical Genetics Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| authorships[7].affiliations[1].institution_ids | https://openalex.org/I83816512 |
| authorships[7].affiliations[1].raw_affiliation_string | Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova , Genoa , Italy |
| authorships[7].institutions[0].id | https://openalex.org/I2801463291 |
| authorships[7].institutions[0].ror | https://ror.org/0424g0k78 |
| authorships[7].institutions[0].type | healthcare |
| authorships[7].institutions[0].lineage | https://openalex.org/I2801463291, https://openalex.org/I4210153126 |
| authorships[7].institutions[0].country_code | IT |
| authorships[7].institutions[0].display_name | Istituto Giannina Gaslini |
| authorships[7].institutions[1].id | https://openalex.org/I83816512 |
| authorships[7].institutions[1].ror | https://ror.org/0107c5v14 |
| authorships[7].institutions[1].type | education |
| authorships[7].institutions[1].lineage | https://openalex.org/I83816512 |
| authorships[7].institutions[1].country_code | IT |
| authorships[7].institutions[1].display_name | University of Genoa |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Federico Zara |
| authorships[7].is_corresponding | True |
| authorships[7].raw_affiliation_strings | Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova , Genoa , Italy, Medical Genetics Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| authorships[8].author.id | https://openalex.org/A5088309302 |
| authorships[8].author.orcid | |
| authorships[8].author.display_name | Pasquale Striano |
| authorships[8].countries | IT |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I83816512 |
| authorships[8].affiliations[0].raw_affiliation_string | Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova , Genoa , Italy |
| authorships[8].affiliations[1].institution_ids | https://openalex.org/I2801463291 |
| authorships[8].affiliations[1].raw_affiliation_string | Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| authorships[8].institutions[0].id | https://openalex.org/I2801463291 |
| authorships[8].institutions[0].ror | https://ror.org/0424g0k78 |
| authorships[8].institutions[0].type | healthcare |
| authorships[8].institutions[0].lineage | https://openalex.org/I2801463291, https://openalex.org/I4210153126 |
| authorships[8].institutions[0].country_code | IT |
| authorships[8].institutions[0].display_name | Istituto Giannina Gaslini |
| authorships[8].institutions[1].id | https://openalex.org/I83816512 |
| authorships[8].institutions[1].ror | https://ror.org/0107c5v14 |
| authorships[8].institutions[1].type | education |
| authorships[8].institutions[1].lineage | https://openalex.org/I83816512 |
| authorships[8].institutions[1].country_code | IT |
| authorships[8].institutions[1].display_name | University of Genoa |
| authorships[8].author_position | last |
| authorships[8].raw_author_name | Pasquale Striano |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova , Genoa , Italy, Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini , Genoa , Italy |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://academic.oup.com/brain/article-pdf/146/1/e1/48517549/awac323.pdf |
| open_access.oa_status | hybrid |
| open_access.any_repository_has_fulltext | False |
| created_date | 2022-09-30T00:00:00 |
| display_name | Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome |
| has_fulltext | True |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T11677 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9962999820709229 |
| primary_topic.domain.id | https://openalex.org/domains/1 |
| primary_topic.domain.display_name | Life Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/1312 |
| primary_topic.subfield.display_name | Molecular Biology |
| primary_topic.display_name | Congenital heart defects research |
| related_works | https://openalex.org/W2642620050, https://openalex.org/W2009655384, https://openalex.org/W2121428987, https://openalex.org/W4288808941, https://openalex.org/W2016052345, https://openalex.org/W1496059372, https://openalex.org/W2567173776, https://openalex.org/W1522717150, https://openalex.org/W4384201175, https://openalex.org/W1840542775 |
| cited_by_count | 2 |
| 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 | 1 |
| locations_count | 4 |
| best_oa_location.id | doi:10.1093/brain/awac323 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S118357697 |
| best_oa_location.source.issn | 0006-8950, 1460-2156 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | False |
| best_oa_location.source.issn_l | 0006-8950 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | Brain |
| best_oa_location.source.host_organization | https://openalex.org/P4310311648 |
| best_oa_location.source.host_organization_name | Oxford University Press |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310311648 |
| best_oa_location.license | cc-by-nc |
| best_oa_location.pdf_url | https://academic.oup.com/brain/article-pdf/146/1/e1/48517549/awac323.pdf |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by-nc |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | Brain |
| best_oa_location.landing_page_url | https://doi.org/10.1093/brain/awac323 |
| primary_location.id | doi:10.1093/brain/awac323 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S118357697 |
| primary_location.source.issn | 0006-8950, 1460-2156 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | 0006-8950 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | Brain |
| primary_location.source.host_organization | https://openalex.org/P4310311648 |
| primary_location.source.host_organization_name | Oxford University Press |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310311648 |
| primary_location.license | cc-by-nc |
| primary_location.pdf_url | https://academic.oup.com/brain/article-pdf/146/1/e1/48517549/awac323.pdf |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | https://openalex.org/licenses/cc-by-nc |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | Brain |
| primary_location.landing_page_url | https://doi.org/10.1093/brain/awac323 |
| publication_date | 2022-09-07 |
| publication_year | 2022 |
| referenced_works | https://openalex.org/W4210629333, https://openalex.org/W2604149515, https://openalex.org/W2806701540, https://openalex.org/W2944960785, https://openalex.org/W3200534170, https://openalex.org/W3133753929, https://openalex.org/W3215877615, https://openalex.org/W2029448049, https://openalex.org/W2999912825, https://openalex.org/W2106811713, https://openalex.org/W1482498530 |
| referenced_works_count | 11 |
| abstract_inverted_index | |
| cited_by_percentile_year.max | 94 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5028146696, https://openalex.org/A5055311132 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 9 |
| corresponding_institution_ids | https://openalex.org/I2801463291, https://openalex.org/I83816512 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/2 |
| sustainable_development_goals[0].score | 0.4699999988079071 |
| sustainable_development_goals[0].display_name | Zero hunger |
| citation_normalized_percentile.value | 0.50377613 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |