POU3F3 ‐related disorder: Defining the phenotype and expanding the molecular spectrum
Article Swipe
Alessandra Rossi
,
Lot Snijders Blok
,
Sonja Neuser
,
Chiara Klöckner
,
Konrad Platzer
,
Laurence Faivre
,
Heike Weigand
,
Maria Lisa Dentici
,
Marco Tartaglia
,
Marcello Niceta
,
Paolo Alfieri
,
Siddharth Srivastava
,
David L. Coulter
,
Lacey Smith
,
Kristin Vinorum
,
Gerarda Cappuccio
,
Nicola Brunetti‐Pierri
,
Deniz Torun
,
Mutluay Arslan
,
Mathilde Lauridsen
,
Oliver Murch
,
Rachel Irving
,
Sally Ann Lynch
,
Sarju Mehta
,
Jenny Carmichael
,
Evelien Zonneveld‐Huijssoon
,
Bert B.A. de Vries
,
Tjitske Kleefstra
,
Katrine M. Johannesen
,
Ian T Westphall
,
Susan Hughes
,
Sarah Smithson
,
Julie Evans
,
Tracy Dudding‐Byth
,
Marleen Simon
,
Ellen van Binsbergen
,
Johanna C. Herkert
,
Gea Beunders
,
Henry Oppermann
,
Mert Bakal
,
Rikke S. Møller
,
Guido Rubboli
,
Allan Bayat
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1111/cge.14353
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1111/cge.14353
POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and genotype–phenotype correlations in individuals with POU3F3‐related disorders. We recruited unpublished individuals with POU3F3 variants through international collaborations and obtained updated clinical data on previously published individuals. Trio exome sequencing or single exome sequencing followed by segregation analysis were performed in the novel cohort. Functional effects of missense variants were investigated with 3D protein modeling. We included 28 individuals (5 previously published) from 26 families carrying POU3F3 variants; 23 de novo and one inherited from an affected parent. Median age at study inclusion was 7.4 years. All had developmental delay mainly affecting speech, behavioral difficulties, psychiatric comorbidities and dysmorphisms. Additional features included gastrointestinal comorbidities, hearing loss, ophthalmological anomalies, epilepsy, sleep disturbances and joint hypermobility. Autism, hearing and eye comorbidities, dysmorphisms were more common in individuals with truncating variants, whereas epilepsy was only associated with missense variants. In silico structural modeling predicted that all (likely) pathogenic variants destabilize the DNA‐binding region of POU3F3. Our study refined the phenotypic and genetic landscape of POU3F3‐related disorders, it reports the functional properties of the identified pathogenic variants, and delineates some genotype–phenotype correlations.
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1111/cge.14353
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14353
- OA Status
- bronze
- Cited By
- 5
- References
- 26
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4376133397
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4376133397Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1111/cge.14353Digital Object Identifier
- Title
-
POU3F3 ‐related disorder: Defining the phenotype and expanding the molecular spectrumWork title - Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-05-10Full publication date if available
- Authors
-
Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Faivre, Heike Weigand, Maria Lisa Dentici, Marco Tartaglia, Marcello Niceta, Paolo Alfieri, Siddharth Srivastava, David L. Coulter, Lacey Smith, Kristin Vinorum, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Deniz Torun, Mutluay Arslan, Mathilde Lauridsen, Oliver Murch, Rachel Irving, Sally Ann Lynch, Sarju Mehta, Jenny Carmichael, Evelien Zonneveld‐Huijssoon, Bert B.A. de Vries, Tjitske Kleefstra, Katrine M. Johannesen, Ian T Westphall, Susan Hughes, Sarah Smithson, Julie Evans, Tracy Dudding‐Byth, Marleen Simon, Ellen van Binsbergen, Johanna C. Herkert, Gea Beunders, Henry Oppermann, Mert Bakal, Rikke S. Møller, Guido Rubboli, Allan BayatList of authors in order
- Landing page
-
https://doi.org/10.1111/cge.14353Publisher landing page
- PDF URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14353Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14353Direct OA link when available
- Concepts
-
Phenotype, Genetics, Biology, Computational biology, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
5Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 3, 2024: 1, 2023: 1Per-year citation counts (last 5 years)
- References (count)
-
26Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4376133397 |
|---|---|
| doi | https://doi.org/10.1111/cge.14353 |
| ids.doi | https://doi.org/10.1111/cge.14353 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/37165752 |
| ids.openalex | https://openalex.org/W4376133397 |
| fwci | 1.68687493 |
| 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 | |
| mesh[1].descriptor_ui | D002648 |
| mesh[1].is_major_topic | False |
| mesh[1].qualifier_name | |
| mesh[1].descriptor_name | Child |
| mesh[2].qualifier_ui | Q000235 |
| mesh[2].descriptor_ui | D008607 |
| mesh[2].is_major_topic | True |
| mesh[2].qualifier_name | genetics |
| mesh[2].descriptor_name | Intellectual Disability |
| mesh[3].qualifier_ui | Q000235 |
| mesh[3].descriptor_ui | D001321 |
| mesh[3].is_major_topic | True |
| mesh[3].qualifier_name | genetics |
| mesh[3].descriptor_name | Autistic Disorder |
| mesh[4].qualifier_ui | |
| mesh[4].descriptor_ui | D010641 |
| mesh[4].is_major_topic | False |
| mesh[4].qualifier_name | |
| mesh[4].descriptor_name | Phenotype |
| mesh[5].qualifier_ui | Q000235 |
| mesh[5].descriptor_ui | D004827 |
| mesh[5].is_major_topic | True |
| mesh[5].qualifier_name | genetics |
| mesh[5].descriptor_name | Epilepsy |
| mesh[6].qualifier_ui | Q000235 |
| mesh[6].descriptor_ui | D020125 |
| mesh[6].is_major_topic | False |
| mesh[6].qualifier_name | genetics |
| mesh[6].descriptor_name | Mutation, Missense |
| mesh[7].qualifier_ui | Q000235 |
| mesh[7].descriptor_ui | D002658 |
| mesh[7].is_major_topic | False |
| mesh[7].qualifier_name | genetics |
| mesh[7].descriptor_name | Developmental Disabilities |
| mesh[8].qualifier_ui | Q000235 |
| mesh[8].descriptor_ui | D050809 |
| mesh[8].is_major_topic | False |
| mesh[8].qualifier_name | genetics |
| mesh[8].descriptor_name | POU Domain Factors |
| mesh[9].qualifier_ui | |
| mesh[9].descriptor_ui | D006801 |
| mesh[9].is_major_topic | False |
| mesh[9].qualifier_name | |
| mesh[9].descriptor_name | Humans |
| mesh[10].qualifier_ui | |
| mesh[10].descriptor_ui | D002648 |
| mesh[10].is_major_topic | False |
| mesh[10].qualifier_name | |
| mesh[10].descriptor_name | Child |
| mesh[11].qualifier_ui | Q000235 |
| mesh[11].descriptor_ui | D008607 |
| mesh[11].is_major_topic | True |
| mesh[11].qualifier_name | genetics |
| mesh[11].descriptor_name | Intellectual Disability |
| mesh[12].qualifier_ui | Q000235 |
| mesh[12].descriptor_ui | D001321 |
| mesh[12].is_major_topic | True |
| mesh[12].qualifier_name | genetics |
| mesh[12].descriptor_name | Autistic Disorder |
| mesh[13].qualifier_ui | |
| mesh[13].descriptor_ui | D010641 |
| mesh[13].is_major_topic | False |
| mesh[13].qualifier_name | |
| mesh[13].descriptor_name | Phenotype |
| mesh[14].qualifier_ui | Q000235 |
| mesh[14].descriptor_ui | D004827 |
| mesh[14].is_major_topic | True |
| mesh[14].qualifier_name | genetics |
| mesh[14].descriptor_name | Epilepsy |
| mesh[15].qualifier_ui | Q000235 |
| mesh[15].descriptor_ui | D020125 |
| mesh[15].is_major_topic | False |
| mesh[15].qualifier_name | genetics |
| mesh[15].descriptor_name | Mutation, Missense |
| mesh[16].qualifier_ui | Q000235 |
| mesh[16].descriptor_ui | D002658 |
| mesh[16].is_major_topic | False |
| mesh[16].qualifier_name | genetics |
| mesh[16].descriptor_name | Developmental Disabilities |
| mesh[17].qualifier_ui | Q000235 |
| mesh[17].descriptor_ui | D050809 |
| mesh[17].is_major_topic | False |
| mesh[17].qualifier_name | genetics |
| mesh[17].descriptor_name | POU Domain Factors |
| mesh[18].qualifier_ui | |
| mesh[18].descriptor_ui | D006801 |
| mesh[18].is_major_topic | False |
| mesh[18].qualifier_name | |
| mesh[18].descriptor_name | Humans |
| mesh[19].qualifier_ui | |
| mesh[19].descriptor_ui | D002648 |
| mesh[19].is_major_topic | False |
| mesh[19].qualifier_name | |
| mesh[19].descriptor_name | Child |
| mesh[20].qualifier_ui | Q000235 |
| mesh[20].descriptor_ui | D008607 |
| mesh[20].is_major_topic | True |
| mesh[20].qualifier_name | genetics |
| mesh[20].descriptor_name | Intellectual Disability |
| mesh[21].qualifier_ui | Q000235 |
| mesh[21].descriptor_ui | D001321 |
| mesh[21].is_major_topic | True |
| mesh[21].qualifier_name | genetics |
| mesh[21].descriptor_name | Autistic Disorder |
| mesh[22].qualifier_ui | |
| mesh[22].descriptor_ui | D010641 |
| mesh[22].is_major_topic | False |
| mesh[22].qualifier_name | |
| mesh[22].descriptor_name | Phenotype |
| mesh[23].qualifier_ui | Q000235 |
| mesh[23].descriptor_ui | D004827 |
| mesh[23].is_major_topic | True |
| mesh[23].qualifier_name | genetics |
| mesh[23].descriptor_name | Epilepsy |
| mesh[24].qualifier_ui | Q000235 |
| mesh[24].descriptor_ui | D020125 |
| mesh[24].is_major_topic | False |
| mesh[24].qualifier_name | genetics |
| mesh[24].descriptor_name | Mutation, Missense |
| mesh[25].qualifier_ui | Q000235 |
| mesh[25].descriptor_ui | D002658 |
| mesh[25].is_major_topic | False |
| mesh[25].qualifier_name | genetics |
| mesh[25].descriptor_name | Developmental Disabilities |
| mesh[26].qualifier_ui | Q000235 |
| mesh[26].descriptor_ui | D050809 |
| mesh[26].is_major_topic | False |
| mesh[26].qualifier_name | genetics |
| mesh[26].descriptor_name | POU Domain Factors |
| mesh[27].qualifier_ui | |
| mesh[27].descriptor_ui | D006801 |
| mesh[27].is_major_topic | False |
| mesh[27].qualifier_name | |
| mesh[27].descriptor_name | Humans |
| mesh[28].qualifier_ui | |
| mesh[28].descriptor_ui | D002648 |
| mesh[28].is_major_topic | False |
| mesh[28].qualifier_name | |
| mesh[28].descriptor_name | Child |
| mesh[29].qualifier_ui | Q000235 |
| mesh[29].descriptor_ui | D008607 |
| mesh[29].is_major_topic | True |
| mesh[29].qualifier_name | genetics |
| mesh[29].descriptor_name | Intellectual Disability |
| mesh[30].qualifier_ui | Q000235 |
| mesh[30].descriptor_ui | D001321 |
| mesh[30].is_major_topic | True |
| mesh[30].qualifier_name | genetics |
| mesh[30].descriptor_name | Autistic Disorder |
| mesh[31].qualifier_ui | |
| mesh[31].descriptor_ui | D010641 |
| mesh[31].is_major_topic | False |
| mesh[31].qualifier_name | |
| mesh[31].descriptor_name | Phenotype |
| mesh[32].qualifier_ui | Q000235 |
| mesh[32].descriptor_ui | D004827 |
| mesh[32].is_major_topic | True |
| mesh[32].qualifier_name | genetics |
| mesh[32].descriptor_name | Epilepsy |
| mesh[33].qualifier_ui | Q000235 |
| mesh[33].descriptor_ui | D020125 |
| mesh[33].is_major_topic | False |
| mesh[33].qualifier_name | genetics |
| mesh[33].descriptor_name | Mutation, Missense |
| mesh[34].qualifier_ui | Q000235 |
| mesh[34].descriptor_ui | D002658 |
| mesh[34].is_major_topic | False |
| mesh[34].qualifier_name | genetics |
| mesh[34].descriptor_name | Developmental Disabilities |
| mesh[35].qualifier_ui | Q000235 |
| mesh[35].descriptor_ui | D050809 |
| mesh[35].is_major_topic | False |
| mesh[35].qualifier_name | genetics |
| mesh[35].descriptor_name | POU Domain Factors |
| mesh[36].qualifier_ui | |
| mesh[36].descriptor_ui | D006801 |
| mesh[36].is_major_topic | False |
| mesh[36].qualifier_name | |
| mesh[36].descriptor_name | Humans |
| mesh[37].qualifier_ui | |
| mesh[37].descriptor_ui | D002648 |
| mesh[37].is_major_topic | False |
| mesh[37].qualifier_name | |
| mesh[37].descriptor_name | Child |
| mesh[38].qualifier_ui | Q000235 |
| mesh[38].descriptor_ui | D008607 |
| mesh[38].is_major_topic | True |
| mesh[38].qualifier_name | genetics |
| mesh[38].descriptor_name | Intellectual Disability |
| mesh[39].qualifier_ui | Q000235 |
| mesh[39].descriptor_ui | D001321 |
| mesh[39].is_major_topic | True |
| mesh[39].qualifier_name | genetics |
| mesh[39].descriptor_name | Autistic Disorder |
| mesh[40].qualifier_ui | |
| mesh[40].descriptor_ui | D010641 |
| mesh[40].is_major_topic | False |
| mesh[40].qualifier_name | |
| mesh[40].descriptor_name | Phenotype |
| mesh[41].qualifier_ui | Q000235 |
| mesh[41].descriptor_ui | D004827 |
| mesh[41].is_major_topic | True |
| mesh[41].qualifier_name | genetics |
| mesh[41].descriptor_name | Epilepsy |
| mesh[42].qualifier_ui | Q000235 |
| mesh[42].descriptor_ui | D020125 |
| mesh[42].is_major_topic | False |
| mesh[42].qualifier_name | genetics |
| mesh[42].descriptor_name | Mutation, Missense |
| mesh[43].qualifier_ui | Q000235 |
| mesh[43].descriptor_ui | D002658 |
| mesh[43].is_major_topic | False |
| mesh[43].qualifier_name | genetics |
| mesh[43].descriptor_name | Developmental Disabilities |
| mesh[44].qualifier_ui | Q000235 |
| mesh[44].descriptor_ui | D050809 |
| mesh[44].is_major_topic | False |
| mesh[44].qualifier_name | genetics |
| mesh[44].descriptor_name | POU Domain Factors |
| type | article |
| title | |
| awards[0].id | https://openalex.org/G5426148586 |
| awards[0].funder_id | https://openalex.org/F4320321179 |
| awards[0].funder_award_id | GSP15001 |
| awards[0].funder_display_name | Fondazione Telethon |
| awards[1].id | https://openalex.org/G8589990331 |
| awards[1].funder_id | https://openalex.org/F4320325957 |
| awards[1].funder_award_id | NNF20SA0064340 |
| awards[1].funder_display_name | Novo Nordisk Fonden |
| awards[2].id | https://openalex.org/G6042381346 |
| awards[2].funder_id | https://openalex.org/F4320337359 |
| awards[2].funder_award_id | K23NS119666 |
| awards[2].funder_display_name | National Institute of Neurological Disorders and Stroke |
| biblio.issue | 2 |
| biblio.volume | 104 |
| biblio.last_page | 197 |
| biblio.first_page | 186 |
| grants[0].funder | https://openalex.org/F4320321179 |
| grants[0].award_id | GSP15001 |
| grants[0].funder_display_name | Fondazione Telethon |
| grants[1].funder | https://openalex.org/F4320325957 |
| grants[1].award_id | NNF20SA0064340 |
| grants[1].funder_display_name | Novo Nordisk Fonden |
| grants[2].funder | https://openalex.org/F4320337359 |
| grants[2].award_id | K23NS119666 |
| grants[2].funder_display_name | National Institute of Neurological Disorders and Stroke |
| topics[0].id | https://openalex.org/T13759 |
| topics[0].field.id | https://openalex.org/fields/27 |
| topics[0].field.display_name | Medicine |
| topics[0].score | 0.9937999844551086 |
| topics[0].domain.id | https://openalex.org/domains/4 |
| topics[0].domain.display_name | Health Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/2740 |
| topics[0].subfield.display_name | Pulmonary and Respiratory Medicine |
| topics[0].display_name | Medical Imaging and Pathology Studies |
| topics[1].id | https://openalex.org/T12104 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9815999865531921 |
| 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 | Protein Tyrosine Phosphatases |
| topics[2].id | https://openalex.org/T11579 |
| topics[2].field.id | https://openalex.org/fields/27 |
| topics[2].field.display_name | Medicine |
| topics[2].score | 0.9743000268936157 |
| topics[2].domain.id | https://openalex.org/domains/4 |
| topics[2].domain.display_name | Health Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/2740 |
| topics[2].subfield.display_name | Pulmonary and Respiratory Medicine |
| topics[2].display_name | Cardiovascular and Diving-Related Complications |
| funders[0].id | https://openalex.org/F4320321179 |
| funders[0].ror | https://ror.org/04xraxn18 |
| funders[0].display_name | Fondazione Telethon |
| funders[1].id | https://openalex.org/F4320325957 |
| funders[1].ror | https://ror.org/04txyc737 |
| funders[1].display_name | Novo Nordisk Fonden |
| funders[2].id | https://openalex.org/F4320337359 |
| funders[2].ror | https://ror.org/01s5ya894 |
| funders[2].display_name | National Institute of Neurological Disorders and Stroke |
| is_xpac | False |
| apc_list.value | 4740 |
| apc_list.currency | USD |
| apc_list.value_usd | 4740 |
| apc_paid | |
| concepts[0].id | https://openalex.org/C127716648 |
| concepts[0].level | 3 |
| concepts[0].score | 0.7597320079803467 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q104053 |
| concepts[0].display_name | Phenotype |
| concepts[1].id | https://openalex.org/C54355233 |
| concepts[1].level | 1 |
| concepts[1].score | 0.5262576341629028 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[1].display_name | Genetics |
| concepts[2].id | https://openalex.org/C86803240 |
| concepts[2].level | 0 |
| concepts[2].score | 0.4091615676879883 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[2].display_name | Biology |
| concepts[3].id | https://openalex.org/C70721500 |
| concepts[3].level | 1 |
| concepts[3].score | 0.34156492352485657 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q177005 |
| concepts[3].display_name | Computational biology |
| concepts[4].id | https://openalex.org/C104317684 |
| concepts[4].level | 2 |
| concepts[4].score | 0.19758987426757812 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[4].display_name | Gene |
| keywords[0].id | https://openalex.org/keywords/phenotype |
| keywords[0].score | 0.7597320079803467 |
| keywords[0].display_name | Phenotype |
| keywords[1].id | https://openalex.org/keywords/genetics |
| keywords[1].score | 0.5262576341629028 |
| keywords[1].display_name | Genetics |
| keywords[2].id | https://openalex.org/keywords/biology |
| keywords[2].score | 0.4091615676879883 |
| keywords[2].display_name | Biology |
| keywords[3].id | https://openalex.org/keywords/computational-biology |
| keywords[3].score | 0.34156492352485657 |
| keywords[3].display_name | Computational biology |
| keywords[4].id | https://openalex.org/keywords/gene |
| keywords[4].score | 0.19758987426757812 |
| keywords[4].display_name | Gene |
| language | en |
| locations[0].id | doi:10.1111/cge.14353 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S4954800 |
| locations[0].source.issn | 0009-9163, 1399-0004 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | False |
| locations[0].source.issn_l | 0009-9163 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | False |
| locations[0].source.display_name | Clinical Genetics |
| locations[0].source.host_organization | https://openalex.org/P4310320595 |
| locations[0].source.host_organization_name | Wiley |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310320595 |
| locations[0].license | |
| locations[0].pdf_url | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14353 |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | Clinical Genetics |
| locations[0].landing_page_url | https://doi.org/10.1111/cge.14353 |
| locations[1].id | pmh:oai:sdu.dk:openaire_cris_publications/4398f477-70c1-4830-8eaa-90a38cfd3531 |
| locations[1].is_oa | True |
| locations[1].source.id | https://openalex.org/S4306400423 |
| 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 | University of Southern Denmark Research Portal (University of Southern Denmark) |
| locations[1].source.host_organization | https://openalex.org/I177969490 |
| locations[1].source.host_organization_name | University of Southern Denmark |
| locations[1].source.host_organization_lineage | https://openalex.org/I177969490 |
| locations[1].license | other-oa |
| locations[1].pdf_url | |
| locations[1].version | publishedVersion |
| locations[1].raw_type | article |
| locations[1].license_id | https://openalex.org/licenses/other-oa |
| locations[1].is_accepted | True |
| locations[1].is_published | True |
| locations[1].raw_source_name | Rossi , A , Blok , L S , Neuser , S , Klöckner , C , Platzer , K , Faivre , L O , Weigand , H , Dentici , M L , Tartaglia , M , Niceta , M , Alfieri , P , Srivastava , S , Coulter , D , Smith , L , Vinorum , K , Cappuccio , G , Brunetti-Pierri , N , Torun , D , Arslan , M , Lauridsen , M F , Murch , O , Irving , R , Lynch , S A , Mehta , S G , Carmichael , J , Zonneveld-Huijssoon , E , de Vries , B , Kleefstra , T , Johannesen , K M , Westphall , I T , Hughes , S S , Smithson , S , Evans , J , Dudding-Byth , T , Simon , M , van Binsbergen , E , Herkert , J C , Beunders , G , Oppermann , H , Bakal , M , Møller , R S , Rubboli , G & Bayat , A 2023 , ' POU3F3-related disorder : Defining the phenotype and expanding the molecular spectrum ' , Clinical Genetics , vol. 104 , no. 2 , pp. 186-197 . https://doi.org/10.1111/cge.14353 |
| locations[1].landing_page_url | https://portal.findresearcher.sdu.dk/da/publications/4398f477-70c1-4830-8eaa-90a38cfd3531 |
| locations[2].id | pmid:37165752 |
| locations[2].is_oa | False |
| locations[2].source.id | https://openalex.org/S4306525036 |
| 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 |
| 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 | |
| locations[2].pdf_url | |
| locations[2].version | publishedVersion |
| locations[2].raw_type | |
| locations[2].license_id | |
| locations[2].is_accepted | True |
| locations[2].is_published | True |
| locations[2].raw_source_name | Clinical genetics |
| locations[2].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/37165752 |
| locations[3].id | pmh:oai:pubmedcentral.nih.gov:10330344 |
| 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 | |
| locations[3].pdf_url | https://pmc.ncbi.nlm.nih.gov/articles/PMC10330344/pdf/nihms-1897443.pdf |
| locations[3].version | submittedVersion |
| locations[3].raw_type | Text |
| locations[3].license_id | |
| locations[3].is_accepted | False |
| locations[3].is_published | False |
| locations[3].raw_source_name | Clin Genet |
| locations[3].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/10330344 |
| locations[4].id | pmh:uon:52838 |
| locations[4].is_oa | False |
| locations[4].source | |
| locations[4].license | |
| locations[4].pdf_url | |
| locations[4].version | submittedVersion |
| locations[4].raw_type | journal article |
| locations[4].license_id | |
| locations[4].is_accepted | False |
| locations[4].is_published | False |
| locations[4].raw_source_name | |
| locations[4].landing_page_url | http://hdl.handle.net/1959.13/1490087 |
| locations[5].id | pmh:oai:dspace.library.uu.nl:1874/449161 |
| locations[5].is_oa | True |
| locations[5].source.id | https://openalex.org/S4306401649 |
| 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 | Utrecht University Repository (Utrecht University) |
| locations[5].source.host_organization | https://openalex.org/I193662353 |
| locations[5].source.host_organization_name | Utrecht University |
| locations[5].source.host_organization_lineage | https://openalex.org/I193662353 |
| locations[5].license | other-oa |
| locations[5].pdf_url | |
| locations[5].version | submittedVersion |
| locations[5].raw_type | Article |
| locations[5].license_id | https://openalex.org/licenses/other-oa |
| locations[5].is_accepted | False |
| locations[5].is_published | False |
| locations[5].raw_source_name | |
| locations[5].landing_page_url | https://dspace.library.uu.nl/handle/1874/449161 |
| locations[6].id | pmh:oai:pure.rug.nl:openaire/2fd9acfb-e649-465c-8136-e2d987db37c6 |
| locations[6].is_oa | True |
| locations[6].source.id | https://openalex.org/S4306400420 |
| 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 | University of Groningen research database (University of Groningen / Centre for Information Technology) |
| locations[6].source.host_organization | https://openalex.org/I169381384 |
| locations[6].source.host_organization_name | University of Groningen |
| locations[6].source.host_organization_lineage | https://openalex.org/I169381384 |
| locations[6].license | other-oa |
| locations[6].pdf_url | |
| locations[6].version | submittedVersion |
| locations[6].raw_type | article |
| locations[6].license_id | https://openalex.org/licenses/other-oa |
| locations[6].is_accepted | False |
| locations[6].is_published | False |
| locations[6].raw_source_name | Rossi, A, Blok, L S, Neuser, S, Klöckner, C, Platzer, K, Faivre, L O, Weigand, H, Dentici, M L, Tartaglia, M, Niceta, M, Alfieri, P, Srivastava, S, Coulter, D, Smith, L, Vinorum, K, Cappuccio, G, Brunetti-Pierri, N, Torun, D, Arslan, M, Lauridsen, M F, Murch, O, Irving, R, Lynch, S A, Mehta, S G, Carmichael, J, Zonneveld-Huijssoon, E, de Vries, B, Kleefstra, T, Johannesen, K M, Westphall, I T, Hughes, S S, Smithson, S, Evans, J, Dudding-Byth, T, Simon, M, van Binsbergen, E, Herkert, J C, Beunders, G, Oppermann, H, Bakal, M, Møller, R S, Rubboli, G & Bayat, A 2023, 'POU3F3-related disorder : Defining the phenotype and expanding the molecular spectrum', Clinical Genetics, vol. 104, no. 2, pp. 186-197. https://doi.org/10.1111/cge.14353 |
| locations[6].landing_page_url | https://research.rug.nl/en/publications/2fd9acfb-e649-465c-8136-e2d987db37c6 |
| locations[7].id | pmh:oai:repository.ubn.ru.nl:2066/297008 |
| locations[7].is_oa | False |
| locations[7].source.id | https://openalex.org/S4306401067 |
| locations[7].source.issn | |
| locations[7].source.type | repository |
| locations[7].source.is_oa | False |
| locations[7].source.issn_l | |
| locations[7].source.is_core | False |
| locations[7].source.is_in_doaj | False |
| locations[7].source.display_name | Radboud Repository (Radboud University) |
| locations[7].source.host_organization | https://openalex.org/I145872427 |
| locations[7].source.host_organization_name | Radboud University Nijmegen |
| locations[7].source.host_organization_lineage | https://openalex.org/I145872427 |
| locations[7].license | |
| locations[7].pdf_url | |
| locations[7].version | submittedVersion |
| locations[7].raw_type | Article / Letter to editor |
| locations[7].license_id | |
| locations[7].is_accepted | False |
| locations[7].is_published | False |
| locations[7].raw_source_name | |
| locations[7].landing_page_url | https://repository.ubn.ru.nl/handle/2066/297008 |
| indexed_in | crossref, pubmed |
| authorships[0].author.id | https://openalex.org/A5100627750 |
| authorships[0].author.orcid | https://orcid.org/0000-0002-9978-775X |
| authorships[0].author.display_name | Alessandra Rossi |
| authorships[0].countries | IT |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I25217355 |
| authorships[0].affiliations[0].raw_affiliation_string | Pediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Pavia, Italy |
| authorships[0].affiliations[1].raw_affiliation_string | Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark |
| authorships[0].institutions[0].id | https://openalex.org/I25217355 |
| authorships[0].institutions[0].ror | https://ror.org/00s6t1f81 |
| authorships[0].institutions[0].type | education |
| authorships[0].institutions[0].lineage | https://openalex.org/I25217355 |
| authorships[0].institutions[0].country_code | IT |
| authorships[0].institutions[0].display_name | University of Pavia |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Alessandra Rossi |
| authorships[0].is_corresponding | True |
| authorships[0].raw_affiliation_strings | Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark, Pediatric Clinic, IRCCS San Matteo Hospital Foundation, University of Pavia, Pavia, Italy |
| authorships[1].author.id | https://openalex.org/A5076622669 |
| authorships[1].author.orcid | https://orcid.org/0000-0002-9825-3625 |
| authorships[1].author.display_name | Lot Snijders Blok |
| authorships[1].countries | NL |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I145872427, https://openalex.org/I2802934949 |
| authorships[1].affiliations[0].raw_affiliation_string | Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands |
| authorships[1].institutions[0].id | https://openalex.org/I2802934949 |
| authorships[1].institutions[0].ror | https://ror.org/05wg1m734 |
| authorships[1].institutions[0].type | healthcare |
| authorships[1].institutions[0].lineage | https://openalex.org/I2802934949 |
| authorships[1].institutions[0].country_code | NL |
| authorships[1].institutions[0].display_name | Radboud University Medical Center |
| authorships[1].institutions[1].id | https://openalex.org/I145872427 |
| authorships[1].institutions[1].ror | https://ror.org/016xsfp80 |
| authorships[1].institutions[1].type | education |
| authorships[1].institutions[1].lineage | https://openalex.org/I145872427 |
| authorships[1].institutions[1].country_code | NL |
| authorships[1].institutions[1].display_name | Radboud University Nijmegen |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Lot Snijders Blok |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands |
| authorships[2].author.id | https://openalex.org/A5036167296 |
| authorships[2].author.orcid | https://orcid.org/0000-0002-2875-8791 |
| authorships[2].author.display_name | Sonja Neuser |
| authorships[2].countries | DE |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I926574661 |
| authorships[2].affiliations[0].raw_affiliation_string | Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany |
| authorships[2].institutions[0].id | https://openalex.org/I926574661 |
| authorships[2].institutions[0].ror | https://ror.org/03s7gtk40 |
| authorships[2].institutions[0].type | education |
| authorships[2].institutions[0].lineage | https://openalex.org/I926574661 |
| authorships[2].institutions[0].country_code | DE |
| authorships[2].institutions[0].display_name | Leipzig University |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Sonja Neuser |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany |
| authorships[3].author.id | https://openalex.org/A5053632570 |
| authorships[3].author.orcid | https://orcid.org/0000-0003-4585-8601 |
| authorships[3].author.display_name | Chiara Klöckner |
| authorships[3].countries | DE |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I926574661 |
| authorships[3].affiliations[0].raw_affiliation_string | Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany |
| authorships[3].institutions[0].id | https://openalex.org/I926574661 |
| authorships[3].institutions[0].ror | https://ror.org/03s7gtk40 |
| authorships[3].institutions[0].type | education |
| authorships[3].institutions[0].lineage | https://openalex.org/I926574661 |
| authorships[3].institutions[0].country_code | DE |
| authorships[3].institutions[0].display_name | Leipzig University |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Chiara Klöckner |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany |
| authorships[4].author.id | https://openalex.org/A5006180942 |
| authorships[4].author.orcid | https://orcid.org/0000-0001-6127-6308 |
| authorships[4].author.display_name | Konrad Platzer |
| authorships[4].countries | DE |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I926574661 |
| authorships[4].affiliations[0].raw_affiliation_string | Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany |
| authorships[4].institutions[0].id | https://openalex.org/I926574661 |
| authorships[4].institutions[0].ror | https://ror.org/03s7gtk40 |
| authorships[4].institutions[0].type | education |
| authorships[4].institutions[0].lineage | https://openalex.org/I926574661 |
| authorships[4].institutions[0].country_code | DE |
| authorships[4].institutions[0].display_name | Leipzig University |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Konrad Platzer |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany |
| authorships[5].author.id | https://openalex.org/A5024331920 |
| authorships[5].author.orcid | https://orcid.org/0000-0001-9770-444X |
| authorships[5].author.display_name | Laurence Faivre |
| authorships[5].countries | FR |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I4210116240 |
| authorships[5].affiliations[0].raw_affiliation_string | Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD Centre Hospitalier Universitaire Dijon Dijon France |
| authorships[5].affiliations[1].institution_ids | https://openalex.org/I154526488 |
| authorships[5].affiliations[1].raw_affiliation_string | Genetics of Developmental Disorders Team INSERM – Bourgogne Franche‐Comté University, UMR 1231 GAD Dijon France |
| authorships[5].institutions[0].id | https://openalex.org/I4210116240 |
| authorships[5].institutions[0].ror | https://ror.org/0377z4z10 |
| authorships[5].institutions[0].type | healthcare |
| authorships[5].institutions[0].lineage | https://openalex.org/I4210116240 |
| authorships[5].institutions[0].country_code | FR |
| authorships[5].institutions[0].display_name | CHU Dijon Bourgogne |
| authorships[5].institutions[1].id | https://openalex.org/I154526488 |
| authorships[5].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[5].institutions[1].type | government |
| authorships[5].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[5].institutions[1].country_code | FR |
| authorships[5].institutions[1].display_name | Inserm |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Laurence Olivier Faivre |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD Centre Hospitalier Universitaire Dijon Dijon France, Genetics of Developmental Disorders Team INSERM – Bourgogne Franche‐Comté University, UMR 1231 GAD Dijon France |
| authorships[6].author.id | https://openalex.org/A5050366665 |
| authorships[6].author.orcid | |
| authorships[6].author.display_name | Heike Weigand |
| authorships[6].countries | DE |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I8204097 |
| authorships[6].affiliations[0].raw_affiliation_string | Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr. von Hauner's Children's Hospital, University of Munich, Munich, Germany |
| authorships[6].institutions[0].id | https://openalex.org/I8204097 |
| authorships[6].institutions[0].ror | https://ror.org/05591te55 |
| authorships[6].institutions[0].type | education |
| authorships[6].institutions[0].lineage | https://openalex.org/I8204097 |
| authorships[6].institutions[0].country_code | DE |
| authorships[6].institutions[0].display_name | Ludwig-Maximilians-Universität München |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Heike Weigand |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr. von Hauner's Children's Hospital, University of Munich, Munich, Germany |
| authorships[7].author.id | https://openalex.org/A5029126187 |
| authorships[7].author.orcid | https://orcid.org/0000-0002-9505-5906 |
| authorships[7].author.display_name | Maria Lisa Dentici |
| authorships[7].countries | IT |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[7].affiliations[0].raw_affiliation_string | Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù, IRCCS Rome Italy |
| authorships[7].affiliations[1].institution_ids | https://openalex.org/I4210123352 |
| authorships[7].affiliations[1].raw_affiliation_string | Medical Genetics Unit, Academic Department of Pediatrics Bambino Gesù Children's Hospital, IRCCS Rome Italy |
| authorships[7].institutions[0].id | https://openalex.org/I4210123352 |
| authorships[7].institutions[0].ror | https://ror.org/02sy42d13 |
| authorships[7].institutions[0].type | healthcare |
| authorships[7].institutions[0].lineage | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[7].institutions[0].country_code | IT |
| authorships[7].institutions[0].display_name | Bambino Gesù Children's Hospital |
| authorships[7].institutions[1].id | https://openalex.org/I4210153126 |
| authorships[7].institutions[1].ror | https://ror.org/04tfzc498 |
| authorships[7].institutions[1].type | healthcare |
| authorships[7].institutions[1].lineage | https://openalex.org/I4210153126 |
| authorships[7].institutions[1].country_code | IT |
| authorships[7].institutions[1].display_name | Istituti di Ricovero e Cura a Carattere Scientifico |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Maria L. Dentici |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù, IRCCS Rome Italy, Medical Genetics Unit, Academic Department of Pediatrics Bambino Gesù Children's Hospital, IRCCS Rome Italy |
| authorships[8].author.id | https://openalex.org/A5048934823 |
| authorships[8].author.orcid | https://orcid.org/0000-0001-7736-9672 |
| authorships[8].author.display_name | Marco Tartaglia |
| authorships[8].countries | IT |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[8].affiliations[0].raw_affiliation_string | Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù, IRCCS Rome Italy |
| authorships[8].institutions[0].id | https://openalex.org/I4210123352 |
| authorships[8].institutions[0].ror | https://ror.org/02sy42d13 |
| authorships[8].institutions[0].type | healthcare |
| authorships[8].institutions[0].lineage | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[8].institutions[0].country_code | IT |
| authorships[8].institutions[0].display_name | Bambino Gesù Children's Hospital |
| authorships[8].institutions[1].id | https://openalex.org/I4210153126 |
| authorships[8].institutions[1].ror | https://ror.org/04tfzc498 |
| authorships[8].institutions[1].type | healthcare |
| authorships[8].institutions[1].lineage | https://openalex.org/I4210153126 |
| authorships[8].institutions[1].country_code | IT |
| authorships[8].institutions[1].display_name | Istituti di Ricovero e Cura a Carattere Scientifico |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Marco Tartaglia |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù, IRCCS Rome Italy |
| authorships[9].author.id | https://openalex.org/A5002158250 |
| authorships[9].author.orcid | https://orcid.org/0000-0003-4766-7753 |
| authorships[9].author.display_name | Marcello Niceta |
| authorships[9].countries | IT |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[9].affiliations[0].raw_affiliation_string | Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù, IRCCS Rome Italy |
| authorships[9].institutions[0].id | https://openalex.org/I4210123352 |
| authorships[9].institutions[0].ror | https://ror.org/02sy42d13 |
| authorships[9].institutions[0].type | healthcare |
| authorships[9].institutions[0].lineage | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[9].institutions[0].country_code | IT |
| authorships[9].institutions[0].display_name | Bambino Gesù Children's Hospital |
| authorships[9].institutions[1].id | https://openalex.org/I4210153126 |
| authorships[9].institutions[1].ror | https://ror.org/04tfzc498 |
| authorships[9].institutions[1].type | healthcare |
| authorships[9].institutions[1].lineage | https://openalex.org/I4210153126 |
| authorships[9].institutions[1].country_code | IT |
| authorships[9].institutions[1].display_name | Istituti di Ricovero e Cura a Carattere Scientifico |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Marcello Niceta |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù, IRCCS Rome Italy |
| authorships[10].author.id | https://openalex.org/A5057691551 |
| authorships[10].author.orcid | https://orcid.org/0000-0003-2197-9417 |
| authorships[10].author.display_name | Paolo Alfieri |
| authorships[10].countries | IT |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I4210123352 |
| authorships[10].affiliations[0].raw_affiliation_string | Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience Bambino Gesù Children's Hospital, IRCCS Rome Italy |
| authorships[10].institutions[0].id | https://openalex.org/I4210123352 |
| authorships[10].institutions[0].ror | https://ror.org/02sy42d13 |
| authorships[10].institutions[0].type | healthcare |
| authorships[10].institutions[0].lineage | https://openalex.org/I4210123352, https://openalex.org/I4210153126 |
| authorships[10].institutions[0].country_code | IT |
| authorships[10].institutions[0].display_name | Bambino Gesù Children's Hospital |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Paolo Alfieri |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience Bambino Gesù Children's Hospital, IRCCS Rome Italy |
| authorships[11].author.id | https://openalex.org/A5002114949 |
| authorships[11].author.orcid | https://orcid.org/0000-0001-7008-1879 |
| authorships[11].author.display_name | Siddharth Srivastava |
| authorships[11].countries | US |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I1288882113 |
| authorships[11].affiliations[0].raw_affiliation_string | Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA |
| authorships[11].institutions[0].id | https://openalex.org/I1288882113 |
| authorships[11].institutions[0].ror | https://ror.org/00dvg7y05 |
| authorships[11].institutions[0].type | healthcare |
| authorships[11].institutions[0].lineage | https://openalex.org/I1288882113 |
| authorships[11].institutions[0].country_code | US |
| authorships[11].institutions[0].display_name | Boston Children's Hospital |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Siddharth Srivastava |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA |
| authorships[12].author.id | https://openalex.org/A5111665024 |
| authorships[12].author.orcid | |
| authorships[12].author.display_name | David L. Coulter |
| authorships[12].countries | US |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I1288882113 |
| authorships[12].affiliations[0].raw_affiliation_string | Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA |
| authorships[12].institutions[0].id | https://openalex.org/I1288882113 |
| authorships[12].institutions[0].ror | https://ror.org/00dvg7y05 |
| authorships[12].institutions[0].type | healthcare |
| authorships[12].institutions[0].lineage | https://openalex.org/I1288882113 |
| authorships[12].institutions[0].country_code | US |
| authorships[12].institutions[0].display_name | Boston Children's Hospital |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | David Coulter |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA |
| authorships[13].author.id | https://openalex.org/A5083884446 |
| authorships[13].author.orcid | https://orcid.org/0000-0002-4456-0072 |
| authorships[13].author.display_name | Lacey Smith |
| authorships[13].countries | US |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I1288882113 |
| authorships[13].affiliations[0].raw_affiliation_string | Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA |
| authorships[13].institutions[0].id | https://openalex.org/I1288882113 |
| authorships[13].institutions[0].ror | https://ror.org/00dvg7y05 |
| authorships[13].institutions[0].type | healthcare |
| authorships[13].institutions[0].lineage | https://openalex.org/I1288882113 |
| authorships[13].institutions[0].country_code | US |
| authorships[13].institutions[0].display_name | Boston Children's Hospital |
| authorships[13].author_position | middle |
| authorships[13].raw_author_name | Lacey Smith |
| authorships[13].is_corresponding | False |
| authorships[13].raw_affiliation_strings | Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA |
| authorships[14].author.id | https://openalex.org/A5091923449 |
| authorships[14].author.orcid | |
| authorships[14].author.display_name | Kristin Vinorum |
| authorships[14].countries | NO |
| authorships[14].affiliations[0].institution_ids | https://openalex.org/I1281400175 |
| authorships[14].affiliations[0].raw_affiliation_string | Rikshospitalet, Oslo University Hospital, Oslo, Norway |
| authorships[14].institutions[0].id | https://openalex.org/I1281400175 |
| authorships[14].institutions[0].ror | https://ror.org/00j9c2840 |
| authorships[14].institutions[0].type | healthcare |
| authorships[14].institutions[0].lineage | https://openalex.org/I1281400175 |
| authorships[14].institutions[0].country_code | NO |
| authorships[14].institutions[0].display_name | Oslo University Hospital |
| authorships[14].author_position | middle |
| authorships[14].raw_author_name | Kristin Vinorum |
| authorships[14].is_corresponding | False |
| authorships[14].raw_affiliation_strings | Rikshospitalet, Oslo University Hospital, Oslo, Norway |
| authorships[15].author.id | https://openalex.org/A5049041456 |
| authorships[15].author.orcid | https://orcid.org/0000-0003-3934-2342 |
| authorships[15].author.display_name | Gerarda Cappuccio |
| authorships[15].countries | IT |
| authorships[15].affiliations[0].institution_ids | https://openalex.org/I4210117450 |
| authorships[15].affiliations[0].raw_affiliation_string | Department of Translational Medicine, Federico II University, Naples, Italy |
| authorships[15].affiliations[1].institution_ids | https://openalex.org/I4210152213 |
| authorships[15].affiliations[1].raw_affiliation_string | Telethon Institute of Genetics and Medicine, Naples, Italy |
| authorships[15].institutions[0].id | https://openalex.org/I4210117450 |
| authorships[15].institutions[0].ror | https://ror.org/02jr6tp70 |
| authorships[15].institutions[0].type | healthcare |
| authorships[15].institutions[0].lineage | https://openalex.org/I4210117450, https://openalex.org/I71267560 |
| authorships[15].institutions[0].country_code | IT |
| authorships[15].institutions[0].display_name | Federico II University Hospital |
| authorships[15].institutions[1].id | https://openalex.org/I4210152213 |
| authorships[15].institutions[1].ror | https://ror.org/04xfdsg27 |
| authorships[15].institutions[1].type | facility |
| authorships[15].institutions[1].lineage | https://openalex.org/I4210152213 |
| authorships[15].institutions[1].country_code | IT |
| authorships[15].institutions[1].display_name | Telethon Institute Of Genetics And Medicine |
| authorships[15].author_position | middle |
| authorships[15].raw_author_name | Gerarda Cappuccio |
| authorships[15].is_corresponding | False |
| authorships[15].raw_affiliation_strings | Department of Translational Medicine, Federico II University, Naples, Italy, Telethon Institute of Genetics and Medicine, Naples, Italy |
| authorships[16].author.id | https://openalex.org/A5071239607 |
| authorships[16].author.orcid | https://orcid.org/0000-0002-6895-8819 |
| authorships[16].author.display_name | Nicola Brunetti‐Pierri |
| authorships[16].countries | IT |
| authorships[16].affiliations[0].institution_ids | https://openalex.org/I2800920820, https://openalex.org/I4210149489 |
| authorships[16].affiliations[0].raw_affiliation_string | Scuola Superiore Meridionale, School for Advanced Studies, Naples, Italy |
| authorships[16].affiliations[1].institution_ids | https://openalex.org/I4210152213 |
| authorships[16].affiliations[1].raw_affiliation_string | Telethon Institute of Genetics and Medicine, Naples, Italy |
| authorships[16].affiliations[2].institution_ids | https://openalex.org/I4210117450 |
| authorships[16].affiliations[2].raw_affiliation_string | Department of Translational Medicine, Federico II University, Naples, Italy |
| authorships[16].institutions[0].id | https://openalex.org/I4210117450 |
| authorships[16].institutions[0].ror | https://ror.org/02jr6tp70 |
| authorships[16].institutions[0].type | healthcare |
| authorships[16].institutions[0].lineage | https://openalex.org/I4210117450, https://openalex.org/I71267560 |
| authorships[16].institutions[0].country_code | IT |
| authorships[16].institutions[0].display_name | Federico II University Hospital |
| authorships[16].institutions[1].id | https://openalex.org/I2800920820 |
| authorships[16].institutions[1].ror | https://ror.org/0290wsh42 |
| authorships[16].institutions[1].type | education |
| authorships[16].institutions[1].lineage | https://openalex.org/I2800920820 |
| authorships[16].institutions[1].country_code | IT |
| authorships[16].institutions[1].display_name | Istituto Universitario di Studi Superiori di Pavia |
| authorships[16].institutions[2].id | https://openalex.org/I4210149489 |
| authorships[16].institutions[2].ror | https://ror.org/04swxte59 |
| authorships[16].institutions[2].type | education |
| authorships[16].institutions[2].lineage | https://openalex.org/I4210149489 |
| authorships[16].institutions[2].country_code | IT |
| authorships[16].institutions[2].display_name | Scuola Superiore Meridionale |
| authorships[16].institutions[3].id | https://openalex.org/I4210152213 |
| authorships[16].institutions[3].ror | https://ror.org/04xfdsg27 |
| authorships[16].institutions[3].type | facility |
| authorships[16].institutions[3].lineage | https://openalex.org/I4210152213 |
| authorships[16].institutions[3].country_code | IT |
| authorships[16].institutions[3].display_name | Telethon Institute Of Genetics And Medicine |
| authorships[16].author_position | middle |
| authorships[16].raw_author_name | Nicola Brunetti‐Pierri |
| authorships[16].is_corresponding | False |
| authorships[16].raw_affiliation_strings | Department of Translational Medicine, Federico II University, Naples, Italy, Scuola Superiore Meridionale, School for Advanced Studies, Naples, Italy, Telethon Institute of Genetics and Medicine, Naples, Italy |
| authorships[17].author.id | https://openalex.org/A5059789944 |
| authorships[17].author.orcid | https://orcid.org/0000-0001-6415-8323 |
| authorships[17].author.display_name | Deniz Torun |
| authorships[17].countries | TR |
| authorships[17].affiliations[0].institution_ids | https://openalex.org/I4210128276 |
| authorships[17].affiliations[0].raw_affiliation_string | Department of Medical Genetics, Gülhane Faculty of Medicine University of Health Sciences Ankara Turkey |
| authorships[17].institutions[0].id | https://openalex.org/I4210128276 |
| authorships[17].institutions[0].ror | https://ror.org/03k7bde87 |
| authorships[17].institutions[0].type | education |
| authorships[17].institutions[0].lineage | https://openalex.org/I4210128276 |
| authorships[17].institutions[0].country_code | TR |
| authorships[17].institutions[0].display_name | Sağlık Bilimleri Üniversitesi |
| authorships[17].author_position | middle |
| authorships[17].raw_author_name | Deniz Torun |
| authorships[17].is_corresponding | False |
| authorships[17].raw_affiliation_strings | Department of Medical Genetics, Gülhane Faculty of Medicine University of Health Sciences Ankara Turkey |
| authorships[18].author.id | https://openalex.org/A5003279642 |
| authorships[18].author.orcid | https://orcid.org/0000-0002-6520-1810 |
| authorships[18].author.display_name | Mutluay Arslan |
| authorships[18].countries | TR |
| authorships[18].affiliations[0].institution_ids | https://openalex.org/I4210128276 |
| authorships[18].affiliations[0].raw_affiliation_string | Department of Pediatric Neurology, Gülhane Faculty of Medicine University of Health Sciences Ankara Turkey |
| authorships[18].institutions[0].id | https://openalex.org/I4210128276 |
| authorships[18].institutions[0].ror | https://ror.org/03k7bde87 |
| authorships[18].institutions[0].type | education |
| authorships[18].institutions[0].lineage | https://openalex.org/I4210128276 |
| authorships[18].institutions[0].country_code | TR |
| authorships[18].institutions[0].display_name | Sağlık Bilimleri Üniversitesi |
| authorships[18].author_position | middle |
| authorships[18].raw_author_name | Mutluay Arslan |
| authorships[18].is_corresponding | False |
| authorships[18].raw_affiliation_strings | Department of Pediatric Neurology, Gülhane Faculty of Medicine University of Health Sciences Ankara Turkey |
| authorships[19].author.id | https://openalex.org/A5070303053 |
| authorships[19].author.orcid | https://orcid.org/0000-0003-2290-9525 |
| authorships[19].author.display_name | Mathilde Lauridsen |
| authorships[19].countries | DK |
| authorships[19].affiliations[0].institution_ids | https://openalex.org/I4210091196 |
| authorships[19].affiliations[0].raw_affiliation_string | Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark |
| authorships[19].institutions[0].id | https://openalex.org/I4210091196 |
| authorships[19].institutions[0].ror | https://ror.org/00e8ar137 |
| authorships[19].institutions[0].type | healthcare |
| authorships[19].institutions[0].lineage | https://openalex.org/I4210091196, https://openalex.org/I4210142184 |
| authorships[19].institutions[0].country_code | DK |
| authorships[19].institutions[0].display_name | Vejle Sygehus |
| authorships[19].author_position | middle |
| authorships[19].raw_author_name | Mathilde F. Lauridsen |
| authorships[19].is_corresponding | False |
| authorships[19].raw_affiliation_strings | Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark |
| authorships[20].author.id | https://openalex.org/A5033551763 |
| authorships[20].author.orcid | https://orcid.org/0000-0003-1298-5647 |
| authorships[20].author.display_name | Oliver Murch |
| authorships[20].countries | GB |
| authorships[20].affiliations[0].institution_ids | https://openalex.org/I2800861664, https://openalex.org/I4210151791 |
| authorships[20].affiliations[0].raw_affiliation_string | All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK |
| authorships[20].institutions[0].id | https://openalex.org/I4210151791 |
| authorships[20].institutions[0].ror | https://ror.org/053a6xa29 |
| authorships[20].institutions[0].type | company |
| authorships[20].institutions[0].lineage | https://openalex.org/I4210151791 |
| authorships[20].institutions[0].country_code | GB |
| authorships[20].institutions[0].display_name | Genomics (United Kingdom) |
| authorships[20].institutions[1].id | https://openalex.org/I2800861664 |
| authorships[20].institutions[1].ror | https://ror.org/04fgpet95 |
| authorships[20].institutions[1].type | healthcare |
| authorships[20].institutions[1].lineage | https://openalex.org/I1299209451, https://openalex.org/I2800861664, https://openalex.org/I4210144625 |
| authorships[20].institutions[1].country_code | GB |
| authorships[20].institutions[1].display_name | University Hospital of Wales |
| authorships[20].author_position | middle |
| authorships[20].raw_author_name | Oliver Murch |
| authorships[20].is_corresponding | False |
| authorships[20].raw_affiliation_strings | All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK |
| authorships[21].author.id | https://openalex.org/A5063139989 |
| authorships[21].author.orcid | |
| authorships[21].author.display_name | Rachel Irving |
| authorships[21].countries | GB |
| authorships[21].affiliations[0].institution_ids | https://openalex.org/I2800861664, https://openalex.org/I4210151791 |
| authorships[21].affiliations[0].raw_affiliation_string | All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK |
| authorships[21].institutions[0].id | https://openalex.org/I4210151791 |
| authorships[21].institutions[0].ror | https://ror.org/053a6xa29 |
| authorships[21].institutions[0].type | company |
| authorships[21].institutions[0].lineage | https://openalex.org/I4210151791 |
| authorships[21].institutions[0].country_code | GB |
| authorships[21].institutions[0].display_name | Genomics (United Kingdom) |
| authorships[21].institutions[1].id | https://openalex.org/I2800861664 |
| authorships[21].institutions[1].ror | https://ror.org/04fgpet95 |
| authorships[21].institutions[1].type | healthcare |
| authorships[21].institutions[1].lineage | https://openalex.org/I1299209451, https://openalex.org/I2800861664, https://openalex.org/I4210144625 |
| authorships[21].institutions[1].country_code | GB |
| authorships[21].institutions[1].display_name | University Hospital of Wales |
| authorships[21].author_position | middle |
| authorships[21].raw_author_name | Rachel Irving |
| authorships[21].is_corresponding | False |
| authorships[21].raw_affiliation_strings | All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK |
| authorships[22].author.id | https://openalex.org/A5082143264 |
| authorships[22].author.orcid | https://orcid.org/0000-0003-3540-1333 |
| authorships[22].author.display_name | Sally Ann Lynch |
| authorships[22].countries | IE |
| authorships[22].affiliations[0].institution_ids | https://openalex.org/I3017411684 |
| authorships[22].affiliations[0].raw_affiliation_string | Children's Health Ireland at Crumlin, Dublin 12, Ireland |
| authorships[22].institutions[0].id | https://openalex.org/I3017411684 |
| authorships[22].institutions[0].ror | https://ror.org/025qedy81 |
| authorships[22].institutions[0].type | healthcare |
| authorships[22].institutions[0].lineage | https://openalex.org/I3017411684 |
| authorships[22].institutions[0].country_code | IE |
| authorships[22].institutions[0].display_name | Children's Health Ireland at Crumlin |
| authorships[22].author_position | middle |
| authorships[22].raw_author_name | Sally A. Lynch |
| authorships[22].is_corresponding | False |
| authorships[22].raw_affiliation_strings | Children's Health Ireland at Crumlin, Dublin 12, Ireland |
| authorships[23].author.id | https://openalex.org/A5003253214 |
| authorships[23].author.orcid | https://orcid.org/0000-0003-0446-3435 |
| authorships[23].author.display_name | Sarju Mehta |
| authorships[23].countries | GB |
| authorships[23].affiliations[0].institution_ids | https://openalex.org/I2802466933 |
| authorships[23].affiliations[0].raw_affiliation_string | Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK |
| authorships[23].institutions[0].id | https://openalex.org/I2802466933 |
| authorships[23].institutions[0].ror | https://ror.org/04v54gj93 |
| authorships[23].institutions[0].type | healthcare |
| authorships[23].institutions[0].lineage | https://openalex.org/I2802466933 |
| authorships[23].institutions[0].country_code | GB |
| authorships[23].institutions[0].display_name | Cambridge University Hospitals NHS Foundation Trust |
| authorships[23].author_position | middle |
| authorships[23].raw_author_name | Sarju G. Mehta |
| authorships[23].is_corresponding | False |
| authorships[23].raw_affiliation_strings | Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK |
| authorships[24].author.id | https://openalex.org/A5073038800 |
| authorships[24].author.orcid | |
| authorships[24].author.display_name | Jenny Carmichael |
| authorships[24].countries | GB |
| authorships[24].affiliations[0].institution_ids | https://openalex.org/I2802466933 |
| authorships[24].affiliations[0].raw_affiliation_string | Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK |
| authorships[24].institutions[0].id | https://openalex.org/I2802466933 |
| authorships[24].institutions[0].ror | https://ror.org/04v54gj93 |
| authorships[24].institutions[0].type | healthcare |
| authorships[24].institutions[0].lineage | https://openalex.org/I2802466933 |
| authorships[24].institutions[0].country_code | GB |
| authorships[24].institutions[0].display_name | Cambridge University Hospitals NHS Foundation Trust |
| authorships[24].author_position | middle |
| authorships[24].raw_author_name | Jenny Carmichael |
| authorships[24].is_corresponding | False |
| authorships[24].raw_affiliation_strings | Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK |
| authorships[25].author.id | https://openalex.org/A5038664285 |
| authorships[25].author.orcid | https://orcid.org/0000-0002-9503-6297 |
| authorships[25].author.display_name | Evelien Zonneveld‐Huijssoon |
| authorships[25].countries | NL |
| authorships[25].affiliations[0].institution_ids | https://openalex.org/I1334415907, https://openalex.org/I169381384 |
| authorships[25].affiliations[0].raw_affiliation_string | Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands |
| authorships[25].institutions[0].id | https://openalex.org/I1334415907 |
| authorships[25].institutions[0].ror | https://ror.org/03cv38k47 |
| authorships[25].institutions[0].type | healthcare |
| authorships[25].institutions[0].lineage | https://openalex.org/I1334415907 |
| authorships[25].institutions[0].country_code | NL |
| authorships[25].institutions[0].display_name | University Medical Center Groningen |
| authorships[25].institutions[1].id | https://openalex.org/I169381384 |
| authorships[25].institutions[1].ror | https://ror.org/012p63287 |
| authorships[25].institutions[1].type | education |
| authorships[25].institutions[1].lineage | https://openalex.org/I169381384 |
| authorships[25].institutions[1].country_code | NL |
| authorships[25].institutions[1].display_name | University of Groningen |
| authorships[25].author_position | middle |
| authorships[25].raw_author_name | Evelien Zonneveld‐Huijssoon |
| authorships[25].is_corresponding | False |
| authorships[25].raw_affiliation_strings | Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands |
| authorships[26].author.id | https://openalex.org/A5071264188 |
| authorships[26].author.orcid | https://orcid.org/0000-0002-0000-2917 |
| authorships[26].author.display_name | Bert B.A. de Vries |
| authorships[26].countries | NL |
| authorships[26].affiliations[0].institution_ids | https://openalex.org/I145872427, https://openalex.org/I2802934949 |
| authorships[26].affiliations[0].raw_affiliation_string | Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands |
| authorships[26].institutions[0].id | https://openalex.org/I2802934949 |
| authorships[26].institutions[0].ror | https://ror.org/05wg1m734 |
| authorships[26].institutions[0].type | healthcare |
| authorships[26].institutions[0].lineage | https://openalex.org/I2802934949 |
| authorships[26].institutions[0].country_code | NL |
| authorships[26].institutions[0].display_name | Radboud University Medical Center |
| authorships[26].institutions[1].id | https://openalex.org/I145872427 |
| authorships[26].institutions[1].ror | https://ror.org/016xsfp80 |
| authorships[26].institutions[1].type | education |
| authorships[26].institutions[1].lineage | https://openalex.org/I145872427 |
| authorships[26].institutions[1].country_code | NL |
| authorships[26].institutions[1].display_name | Radboud University Nijmegen |
| authorships[26].author_position | middle |
| authorships[26].raw_author_name | Bert de Vries |
| authorships[26].is_corresponding | False |
| authorships[26].raw_affiliation_strings | Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands |
| authorships[27].author.id | https://openalex.org/A5091740728 |
| authorships[27].author.orcid | https://orcid.org/0000-0002-0956-0237 |
| authorships[27].author.display_name | Tjitske Kleefstra |
| authorships[27].countries | NL |
| authorships[27].affiliations[0].institution_ids | https://openalex.org/I145872427, https://openalex.org/I2802934949 |
| authorships[27].affiliations[0].raw_affiliation_string | Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands |
| authorships[27].institutions[0].id | https://openalex.org/I2802934949 |
| authorships[27].institutions[0].ror | https://ror.org/05wg1m734 |
| authorships[27].institutions[0].type | healthcare |
| authorships[27].institutions[0].lineage | https://openalex.org/I2802934949 |
| authorships[27].institutions[0].country_code | NL |
| authorships[27].institutions[0].display_name | Radboud University Medical Center |
| authorships[27].institutions[1].id | https://openalex.org/I145872427 |
| authorships[27].institutions[1].ror | https://ror.org/016xsfp80 |
| authorships[27].institutions[1].type | education |
| authorships[27].institutions[1].lineage | https://openalex.org/I145872427 |
| authorships[27].institutions[1].country_code | NL |
| authorships[27].institutions[1].display_name | Radboud University Nijmegen |
| authorships[27].author_position | middle |
| authorships[27].raw_author_name | Tjitske Kleefstra |
| authorships[27].is_corresponding | False |
| authorships[27].raw_affiliation_strings | Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands |
| authorships[28].author.id | https://openalex.org/A5011233438 |
| authorships[28].author.orcid | https://orcid.org/0000-0002-7356-3109 |
| authorships[28].author.display_name | Katrine M. Johannesen |
| authorships[28].countries | DK |
| authorships[28].affiliations[0].raw_affiliation_string | Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark |
| authorships[28].affiliations[1].institution_ids | https://openalex.org/I2802567020 |
| authorships[28].affiliations[1].raw_affiliation_string | Department of Genetics, University Hospital of Copenhagen, Copenhagen, Denmark |
| authorships[28].institutions[0].id | https://openalex.org/I2802567020 |
| authorships[28].institutions[0].ror | https://ror.org/05bpbnx46 |
| authorships[28].institutions[0].type | healthcare |
| authorships[28].institutions[0].lineage | https://openalex.org/I2802567020 |
| authorships[28].institutions[0].country_code | DK |
| authorships[28].institutions[0].display_name | Copenhagen University Hospital |
| authorships[28].author_position | middle |
| authorships[28].raw_author_name | Katrine M. Johannesen |
| authorships[28].is_corresponding | False |
| authorships[28].raw_affiliation_strings | Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark, Department of Genetics, University Hospital of Copenhagen, Copenhagen, Denmark |
| authorships[29].author.id | https://openalex.org/A5052811088 |
| authorships[29].author.orcid | |
| authorships[29].author.display_name | Ian T Westphall |
| authorships[29].countries | DK |
| authorships[29].affiliations[0].institution_ids | https://openalex.org/I2801942218, https://openalex.org/I2802567020 |
| authorships[29].affiliations[0].raw_affiliation_string | Department of Paediatrics, Copenhagen University Hospital, Hvidovre, Denmark |
| authorships[29].institutions[0].id | https://openalex.org/I2802567020 |
| authorships[29].institutions[0].ror | https://ror.org/05bpbnx46 |
| authorships[29].institutions[0].type | healthcare |
| authorships[29].institutions[0].lineage | https://openalex.org/I2802567020 |
| authorships[29].institutions[0].country_code | DK |
| authorships[29].institutions[0].display_name | Copenhagen University Hospital |
| authorships[29].institutions[1].id | https://openalex.org/I2801942218 |
| authorships[29].institutions[1].ror | https://ror.org/00edrn755 |
| authorships[29].institutions[1].type | healthcare |
| authorships[29].institutions[1].lineage | https://openalex.org/I2801942218, https://openalex.org/I2802567020 |
| authorships[29].institutions[1].country_code | DK |
| authorships[29].institutions[1].display_name | Hvidovre Hospital |
| authorships[29].author_position | middle |
| authorships[29].raw_author_name | Ian T. Westphall |
| authorships[29].is_corresponding | False |
| authorships[29].raw_affiliation_strings | Department of Paediatrics, Copenhagen University Hospital, Hvidovre, Denmark |
| authorships[30].author.id | https://openalex.org/A5082077793 |
| authorships[30].author.orcid | |
| authorships[30].author.display_name | Susan Hughes |
| authorships[30].countries | US |
| authorships[30].affiliations[0].institution_ids | https://openalex.org/I1328594524 |
| authorships[30].affiliations[0].raw_affiliation_string | Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA |
| authorships[30].institutions[0].id | https://openalex.org/I1328594524 |
| authorships[30].institutions[0].ror | https://ror.org/04zfmcq84 |
| authorships[30].institutions[0].type | healthcare |
| authorships[30].institutions[0].lineage | https://openalex.org/I1328594524 |
| authorships[30].institutions[0].country_code | US |
| authorships[30].institutions[0].display_name | Children's Mercy Hospital |
| authorships[30].author_position | middle |
| authorships[30].raw_author_name | Susan S. Hughes |
| authorships[30].is_corresponding | False |
| authorships[30].raw_affiliation_strings | Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA |
| authorships[31].author.id | https://openalex.org/A5019074628 |
| authorships[31].author.orcid | https://orcid.org/0000-0002-5575-0357 |
| authorships[31].author.display_name | Sarah Smithson |
| authorships[31].countries | GB |
| authorships[31].affiliations[0].institution_ids | https://openalex.org/I2800789647, https://openalex.org/I4392738148 |
| authorships[31].affiliations[0].raw_affiliation_string | Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK |
| authorships[31].institutions[0].id | https://openalex.org/I4392738148 |
| authorships[31].institutions[0].ror | https://ror.org/03jzzxg14 |
| authorships[31].institutions[0].type | healthcare |
| authorships[31].institutions[0].lineage | https://openalex.org/I4392738148 |
| authorships[31].institutions[0].country_code | |
| authorships[31].institutions[0].display_name | University Hospitals Bristol and Weston NHS Foundation Trust |
| authorships[31].institutions[1].id | https://openalex.org/I2800789647 |
| authorships[31].institutions[1].ror | https://ror.org/04nm1cv11 |
| authorships[31].institutions[1].type | healthcare |
| authorships[31].institutions[1].lineage | https://openalex.org/I2800789647 |
| authorships[31].institutions[1].country_code | GB |
| authorships[31].institutions[1].display_name | University Hospitals Bristol NHS Foundation Trust |
| authorships[31].author_position | middle |
| authorships[31].raw_author_name | Sarah Smithson |
| authorships[31].is_corresponding | False |
| authorships[31].raw_affiliation_strings | Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK |
| authorships[32].author.id | https://openalex.org/A5109227395 |
| authorships[32].author.orcid | |
| authorships[32].author.display_name | Julie Evans |
| authorships[32].countries | GB |
| authorships[32].affiliations[0].institution_ids | https://openalex.org/I1307034911, https://openalex.org/I2801253297 |
| authorships[32].affiliations[0].raw_affiliation_string | Bristol Genetics Laboratory, North Bristol NHS Trust, Pathology Sciences Building, Southmead Hospital, Bristol, UK |
| authorships[32].institutions[0].id | https://openalex.org/I1307034911 |
| authorships[32].institutions[0].ror | https://ror.org/036x6gt55 |
| authorships[32].institutions[0].type | healthcare |
| authorships[32].institutions[0].lineage | https://openalex.org/I1307034911 |
| authorships[32].institutions[0].country_code | GB |
| authorships[32].institutions[0].display_name | North Bristol NHS Trust |
| authorships[32].institutions[1].id | https://openalex.org/I2801253297 |
| authorships[32].institutions[1].ror | https://ror.org/05d576879 |
| authorships[32].institutions[1].type | healthcare |
| authorships[32].institutions[1].lineage | https://openalex.org/I1307034911, https://openalex.org/I2801253297 |
| authorships[32].institutions[1].country_code | GB |
| authorships[32].institutions[1].display_name | Southmead Hospital |
| authorships[32].author_position | middle |
| authorships[32].raw_author_name | Julie Evans |
| authorships[32].is_corresponding | False |
| authorships[32].raw_affiliation_strings | Bristol Genetics Laboratory, North Bristol NHS Trust, Pathology Sciences Building, Southmead Hospital, Bristol, UK |
| authorships[33].author.id | https://openalex.org/A5064342997 |
| authorships[33].author.orcid | https://orcid.org/0000-0002-9551-1107 |
| authorships[33].author.display_name | Tracy Dudding‐Byth |
| authorships[33].countries | AU |
| authorships[33].affiliations[0].institution_ids | https://openalex.org/I4210097885 |
| authorships[33].affiliations[0].raw_affiliation_string | NSW Genetics of Learning Disability (GOLD) Service, University of Newcastle, New South Wales, Australia |
| authorships[33].institutions[0].id | https://openalex.org/I4210097885 |
| authorships[33].institutions[0].ror | https://ror.org/00w1xt505 |
| authorships[33].institutions[0].type | healthcare |
| authorships[33].institutions[0].lineage | https://openalex.org/I4210097885, https://openalex.org/I4210154888 |
| authorships[33].institutions[0].country_code | AU |
| authorships[33].institutions[0].display_name | Hunter Genetics |
| authorships[33].author_position | middle |
| authorships[33].raw_author_name | Tracy Dudding‐Byth |
| authorships[33].is_corresponding | False |
| authorships[33].raw_affiliation_strings | NSW Genetics of Learning Disability (GOLD) Service, University of Newcastle, New South Wales, Australia |
| authorships[34].author.id | https://openalex.org/A5073354779 |
| authorships[34].author.orcid | |
| authorships[34].author.display_name | Marleen Simon |
| authorships[34].countries | NL |
| authorships[34].affiliations[0].institution_ids | https://openalex.org/I3018483916 |
| authorships[34].affiliations[0].raw_affiliation_string | Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands |
| authorships[34].institutions[0].id | https://openalex.org/I3018483916 |
| authorships[34].institutions[0].ror | https://ror.org/0575yy874 |
| authorships[34].institutions[0].type | healthcare |
| authorships[34].institutions[0].lineage | https://openalex.org/I3018483916 |
| authorships[34].institutions[0].country_code | NL |
| authorships[34].institutions[0].display_name | University Medical Center Utrecht |
| authorships[34].author_position | middle |
| authorships[34].raw_author_name | Marleen Simon |
| authorships[34].is_corresponding | False |
| authorships[34].raw_affiliation_strings | Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands |
| authorships[35].author.id | https://openalex.org/A5054735627 |
| authorships[35].author.orcid | |
| authorships[35].author.display_name | Ellen van Binsbergen |
| authorships[35].countries | NL |
| authorships[35].affiliations[0].institution_ids | https://openalex.org/I3018483916 |
| authorships[35].affiliations[0].raw_affiliation_string | Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands |
| authorships[35].institutions[0].id | https://openalex.org/I3018483916 |
| authorships[35].institutions[0].ror | https://ror.org/0575yy874 |
| authorships[35].institutions[0].type | healthcare |
| authorships[35].institutions[0].lineage | https://openalex.org/I3018483916 |
| authorships[35].institutions[0].country_code | NL |
| authorships[35].institutions[0].display_name | University Medical Center Utrecht |
| authorships[35].author_position | middle |
| authorships[35].raw_author_name | Ellen van Binsbergen |
| authorships[35].is_corresponding | False |
| authorships[35].raw_affiliation_strings | Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands |
| authorships[36].author.id | https://openalex.org/A5060193567 |
| authorships[36].author.orcid | https://orcid.org/0000-0003-0461-9102 |
| authorships[36].author.display_name | Johanna C. Herkert |
| authorships[36].countries | NL |
| authorships[36].affiliations[0].institution_ids | https://openalex.org/I1334415907, https://openalex.org/I169381384 |
| authorships[36].affiliations[0].raw_affiliation_string | Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands |
| authorships[36].institutions[0].id | https://openalex.org/I1334415907 |
| authorships[36].institutions[0].ror | https://ror.org/03cv38k47 |
| authorships[36].institutions[0].type | healthcare |
| authorships[36].institutions[0].lineage | https://openalex.org/I1334415907 |
| authorships[36].institutions[0].country_code | NL |
| authorships[36].institutions[0].display_name | University Medical Center Groningen |
| authorships[36].institutions[1].id | https://openalex.org/I169381384 |
| authorships[36].institutions[1].ror | https://ror.org/012p63287 |
| authorships[36].institutions[1].type | education |
| authorships[36].institutions[1].lineage | https://openalex.org/I169381384 |
| authorships[36].institutions[1].country_code | NL |
| authorships[36].institutions[1].display_name | University of Groningen |
| authorships[36].author_position | middle |
| authorships[36].raw_author_name | Johanna C. Herkert |
| authorships[36].is_corresponding | False |
| authorships[36].raw_affiliation_strings | Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands |
| authorships[37].author.id | https://openalex.org/A5039513802 |
| authorships[37].author.orcid | https://orcid.org/0000-0003-0655-6168 |
| authorships[37].author.display_name | Gea Beunders |
| authorships[37].countries | NL |
| authorships[37].affiliations[0].institution_ids | https://openalex.org/I1334415907, https://openalex.org/I169381384 |
| authorships[37].affiliations[0].raw_affiliation_string | Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands |
| authorships[37].institutions[0].id | https://openalex.org/I1334415907 |
| authorships[37].institutions[0].ror | https://ror.org/03cv38k47 |
| authorships[37].institutions[0].type | healthcare |
| authorships[37].institutions[0].lineage | https://openalex.org/I1334415907 |
| authorships[37].institutions[0].country_code | NL |
| authorships[37].institutions[0].display_name | University Medical Center Groningen |
| authorships[37].institutions[1].id | https://openalex.org/I169381384 |
| authorships[37].institutions[1].ror | https://ror.org/012p63287 |
| authorships[37].institutions[1].type | education |
| authorships[37].institutions[1].lineage | https://openalex.org/I169381384 |
| authorships[37].institutions[1].country_code | NL |
| authorships[37].institutions[1].display_name | University of Groningen |
| authorships[37].author_position | middle |
| authorships[37].raw_author_name | Gea Beunders |
| authorships[37].is_corresponding | False |
| authorships[37].raw_affiliation_strings | Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands |
| authorships[38].author.id | https://openalex.org/A5030335530 |
| authorships[38].author.orcid | https://orcid.org/0000-0001-9216-5918 |
| authorships[38].author.display_name | Henry Oppermann |
| authorships[38].countries | DE |
| authorships[38].affiliations[0].institution_ids | https://openalex.org/I926574661 |
| authorships[38].affiliations[0].raw_affiliation_string | Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany |
| authorships[38].institutions[0].id | https://openalex.org/I926574661 |
| authorships[38].institutions[0].ror | https://ror.org/03s7gtk40 |
| authorships[38].institutions[0].type | education |
| authorships[38].institutions[0].lineage | https://openalex.org/I926574661 |
| authorships[38].institutions[0].country_code | DE |
| authorships[38].institutions[0].display_name | Leipzig University |
| authorships[38].author_position | middle |
| authorships[38].raw_author_name | Henry Oppermann |
| authorships[38].is_corresponding | False |
| authorships[38].raw_affiliation_strings | Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany |
| authorships[39].author.id | https://openalex.org/A5091923450 |
| authorships[39].author.orcid | |
| authorships[39].author.display_name | Mert Bakal |
| authorships[39].countries | TR |
| authorships[39].affiliations[0].institution_ids | https://openalex.org/I4210108009, https://openalex.org/I4210128276 |
| authorships[39].affiliations[0].raw_affiliation_string | Clinic of Radiology, University of Health Sciences Turkey, Haseki Training and Research Hospital, Istanbul, Turkey |
| authorships[39].institutions[0].id | https://openalex.org/I4210108009 |
| authorships[39].institutions[0].ror | https://ror.org/010q6ek40 |
| authorships[39].institutions[0].type | healthcare |
| authorships[39].institutions[0].lineage | https://openalex.org/I4210108009 |
| authorships[39].institutions[0].country_code | TR |
| authorships[39].institutions[0].display_name | Haseki Eğitim ve Araştırma Hastanesi |
| authorships[39].institutions[1].id | https://openalex.org/I4210128276 |
| authorships[39].institutions[1].ror | https://ror.org/03k7bde87 |
| authorships[39].institutions[1].type | education |
| authorships[39].institutions[1].lineage | https://openalex.org/I4210128276 |
| authorships[39].institutions[1].country_code | TR |
| authorships[39].institutions[1].display_name | Sağlık Bilimleri Üniversitesi |
| authorships[39].author_position | middle |
| authorships[39].raw_author_name | Mert Bakal |
| authorships[39].is_corresponding | False |
| authorships[39].raw_affiliation_strings | Clinic of Radiology, University of Health Sciences Turkey, Haseki Training and Research Hospital, Istanbul, Turkey |
| authorships[40].author.id | https://openalex.org/A5071894755 |
| authorships[40].author.orcid | https://orcid.org/0000-0002-9664-1448 |
| authorships[40].author.display_name | Rikke S. Møller |
| authorships[40].countries | DK |
| authorships[40].affiliations[0].raw_affiliation_string | Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark |
| authorships[40].affiliations[1].institution_ids | https://openalex.org/I177969490 |
| authorships[40].affiliations[1].raw_affiliation_string | Department of Regional Health Research, University of Southern Denmark, Odense, Denmark |
| authorships[40].institutions[0].id | https://openalex.org/I177969490 |
| authorships[40].institutions[0].ror | https://ror.org/03yrrjy16 |
| authorships[40].institutions[0].type | education |
| authorships[40].institutions[0].lineage | https://openalex.org/I177969490 |
| authorships[40].institutions[0].country_code | DK |
| authorships[40].institutions[0].display_name | University of Southern Denmark |
| authorships[40].author_position | middle |
| authorships[40].raw_author_name | Rikke S. Møller |
| authorships[40].is_corresponding | False |
| authorships[40].raw_affiliation_strings | Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark |
| authorships[41].author.id | https://openalex.org/A5014445771 |
| authorships[41].author.orcid | https://orcid.org/0000-0002-5309-2514 |
| authorships[41].author.display_name | Guido Rubboli |
| authorships[41].affiliations[0].raw_affiliation_string | Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark |
| authorships[41].affiliations[1].raw_affiliation_string | Institute of Clinical Medicine, Copenhagen University, Copenhagen, Denmark |
| authorships[41].author_position | middle |
| authorships[41].raw_author_name | Guido Rubboli |
| authorships[41].is_corresponding | False |
| authorships[41].raw_affiliation_strings | Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark, Institute of Clinical Medicine, Copenhagen University, Copenhagen, Denmark |
| authorships[42].author.id | https://openalex.org/A5066493415 |
| authorships[42].author.orcid | https://orcid.org/0000-0003-4986-8006 |
| authorships[42].author.display_name | Allan Bayat |
| authorships[42].countries | DK |
| authorships[42].affiliations[0].institution_ids | https://openalex.org/I124055696 |
| authorships[42].affiliations[0].raw_affiliation_string | Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark |
| authorships[42].affiliations[1].raw_affiliation_string | Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark |
| authorships[42].affiliations[2].institution_ids | https://openalex.org/I177969490 |
| authorships[42].affiliations[2].raw_affiliation_string | Department of Regional Health Research, University of Southern Denmark, Odense, Denmark |
| authorships[42].institutions[0].id | https://openalex.org/I124055696 |
| authorships[42].institutions[0].ror | https://ror.org/035b05819 |
| authorships[42].institutions[0].type | education |
| authorships[42].institutions[0].lineage | https://openalex.org/I124055696 |
| authorships[42].institutions[0].country_code | DK |
| authorships[42].institutions[0].display_name | University of Copenhagen |
| authorships[42].institutions[1].id | https://openalex.org/I177969490 |
| authorships[42].institutions[1].ror | https://ror.org/03yrrjy16 |
| authorships[42].institutions[1].type | education |
| authorships[42].institutions[1].lineage | https://openalex.org/I177969490 |
| authorships[42].institutions[1].country_code | DK |
| authorships[42].institutions[1].display_name | University of Southern Denmark |
| authorships[42].author_position | last |
| authorships[42].raw_author_name | Allan Bayat |
| authorships[42].is_corresponding | True |
| authorships[42].raw_affiliation_strings | Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark, Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, member of the ERN-EpiCARE, Dianalund, Denmark, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14353 |
| open_access.oa_status | bronze |
| open_access.any_repository_has_fulltext | False |
| created_date | 2023-05-12T00:00:00 |
| display_name | |
| has_fulltext | True |
| is_retracted | False |
| updated_date | 2025-11-23T05:10:03.516525 |
| primary_topic.id | https://openalex.org/T13759 |
| primary_topic.field.id | https://openalex.org/fields/27 |
| primary_topic.field.display_name | Medicine |
| primary_topic.score | 0.9937999844551086 |
| primary_topic.domain.id | https://openalex.org/domains/4 |
| primary_topic.domain.display_name | Health Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/2740 |
| primary_topic.subfield.display_name | Pulmonary and Respiratory Medicine |
| primary_topic.display_name | Medical Imaging and Pathology Studies |
| related_works | https://openalex.org/W4391375266, https://openalex.org/W2082860237, https://openalex.org/W2119695867, https://openalex.org/W2130076355, https://openalex.org/W1990804418, https://openalex.org/W1993764875, https://openalex.org/W2046158694, https://openalex.org/W2788277189, https://openalex.org/W2013243191, https://openalex.org/W1971568933 |
| cited_by_count | 5 |
| counts_by_year[0].year | 2025 |
| counts_by_year[0].cited_by_count | 3 |
| counts_by_year[1].year | 2024 |
| counts_by_year[1].cited_by_count | 1 |
| counts_by_year[2].year | 2023 |
| counts_by_year[2].cited_by_count | 1 |
| locations_count | 8 |
| best_oa_location.id | doi:10.1111/cge.14353 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S4954800 |
| best_oa_location.source.issn | 0009-9163, 1399-0004 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | False |
| best_oa_location.source.issn_l | 0009-9163 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | Clinical Genetics |
| best_oa_location.source.host_organization | https://openalex.org/P4310320595 |
| best_oa_location.source.host_organization_name | Wiley |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310320595 |
| best_oa_location.license | |
| best_oa_location.pdf_url | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14353 |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | Clinical Genetics |
| best_oa_location.landing_page_url | https://doi.org/10.1111/cge.14353 |
| primary_location.id | doi:10.1111/cge.14353 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S4954800 |
| primary_location.source.issn | 0009-9163, 1399-0004 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | 0009-9163 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | Clinical Genetics |
| primary_location.source.host_organization | https://openalex.org/P4310320595 |
| primary_location.source.host_organization_name | Wiley |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310320595 |
| primary_location.license | |
| primary_location.pdf_url | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.14353 |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | Clinical Genetics |
| primary_location.landing_page_url | https://doi.org/10.1111/cge.14353 |
| publication_date | 2023-05-10 |
| publication_year | 2023 |
| referenced_works | https://openalex.org/W2088542154, https://openalex.org/W2959316053, https://openalex.org/W2416547216, https://openalex.org/W3135386169, https://openalex.org/W2036841261, https://openalex.org/W1808711893, https://openalex.org/W4247665917, https://openalex.org/W2592509339, https://openalex.org/W2594644573, https://openalex.org/W4225390089, https://openalex.org/W2143238378, https://openalex.org/W3157258746, https://openalex.org/W2909194804, https://openalex.org/W2132123037, https://openalex.org/W2051978340, https://openalex.org/W3211795435, https://openalex.org/W1969770327, https://openalex.org/W2284827612, https://openalex.org/W4282943388, https://openalex.org/W2009757848, https://openalex.org/W2136942244, https://openalex.org/W4386332807, https://openalex.org/W3177828909, https://openalex.org/W3029661147, https://openalex.org/W2742600815, https://openalex.org/W3129351841 |
| referenced_works_count | 26 |
| abstract_inverted_index.(5 | 78 |
| abstract_inverted_index.23 | 87 |
| abstract_inverted_index.26 | 82 |
| abstract_inverted_index.28 | 76 |
| abstract_inverted_index.3D | 71 |
| abstract_inverted_index.In | 155 |
| abstract_inverted_index.We | 12, 27, 74 |
| abstract_inverted_index.an | 94 |
| abstract_inverted_index.at | 99 |
| abstract_inverted_index.by | 54 |
| abstract_inverted_index.de | 88 |
| abstract_inverted_index.in | 22, 59, 142 |
| abstract_inverted_index.it | 182 |
| abstract_inverted_index.of | 65, 169, 179, 187 |
| abstract_inverted_index.on | 42 |
| abstract_inverted_index.or | 49 |
| abstract_inverted_index.7.4 | 103 |
| abstract_inverted_index.All | 105 |
| abstract_inverted_index.Our | 171 |
| abstract_inverted_index.age | 98 |
| abstract_inverted_index.all | 161 |
| abstract_inverted_index.and | 9, 16, 19, 37, 90, 116, 130, 135, 176, 192 |
| abstract_inverted_index.eye | 136 |
| abstract_inverted_index.had | 106 |
| abstract_inverted_index.one | 91 |
| abstract_inverted_index.the | 14, 60, 166, 174, 184, 188 |
| abstract_inverted_index.was | 102, 149 |
| abstract_inverted_index.Trio | 46 |
| abstract_inverted_index.data | 41 |
| abstract_inverted_index.from | 81, 93 |
| abstract_inverted_index.more | 140 |
| abstract_inverted_index.novo | 89 |
| abstract_inverted_index.only | 150 |
| abstract_inverted_index.some | 194 |
| abstract_inverted_index.that | 160 |
| abstract_inverted_index.were | 57, 68, 139 |
| abstract_inverted_index.with | 24, 31, 70, 144, 152 |
| abstract_inverted_index.cause | 3 |
| abstract_inverted_index.delay | 108 |
| abstract_inverted_index.exome | 47, 51 |
| abstract_inverted_index.joint | 131 |
| abstract_inverted_index.loss, | 124 |
| abstract_inverted_index.novel | 61 |
| abstract_inverted_index.sleep | 128 |
| abstract_inverted_index.study | 100, 172 |
| abstract_inverted_index.Median | 97 |
| abstract_inverted_index.POU3F3 | 1, 32, 85 |
| abstract_inverted_index.common | 141 |
| abstract_inverted_index.delay, | 5 |
| abstract_inverted_index.mainly | 109 |
| abstract_inverted_index.region | 168 |
| abstract_inverted_index.silico | 156 |
| abstract_inverted_index.single | 50 |
| abstract_inverted_index.years. | 104 |
| abstract_inverted_index.Autism, | 133 |
| abstract_inverted_index.POU3F3. | 170 |
| abstract_inverted_index.cohort. | 62 |
| abstract_inverted_index.effects | 64 |
| abstract_inverted_index.genetic | 17, 177 |
| abstract_inverted_index.hearing | 123, 134 |
| abstract_inverted_index.parent. | 96 |
| abstract_inverted_index.protein | 72 |
| abstract_inverted_index.refined | 173 |
| abstract_inverted_index.reports | 183 |
| abstract_inverted_index.speech, | 111 |
| abstract_inverted_index.through | 34 |
| abstract_inverted_index.updated | 39 |
| abstract_inverted_index.whereas | 147 |
| abstract_inverted_index.(likely) | 162 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.affected | 95 |
| abstract_inverted_index.analysis | 56 |
| abstract_inverted_index.carrying | 84 |
| abstract_inverted_index.clinical | 40 |
| abstract_inverted_index.epilepsy | 148 |
| abstract_inverted_index.families | 83 |
| abstract_inverted_index.features | 119 |
| abstract_inverted_index.followed | 53 |
| abstract_inverted_index.included | 75, 120 |
| abstract_inverted_index.missense | 66, 153 |
| abstract_inverted_index.modeling | 158 |
| abstract_inverted_index.obtained | 38 |
| abstract_inverted_index.variants | 2, 33, 67, 164 |
| abstract_inverted_index.affecting | 110 |
| abstract_inverted_index.epilepsy, | 127 |
| abstract_inverted_index.features. | 11 |
| abstract_inverted_index.hypotonia | 8 |
| abstract_inverted_index.inclusion | 101 |
| abstract_inverted_index.inherited | 92 |
| abstract_inverted_index.landscape | 178 |
| abstract_inverted_index.modeling. | 73 |
| abstract_inverted_index.performed | 58 |
| abstract_inverted_index.predicted | 159 |
| abstract_inverted_index.problems, | 7 |
| abstract_inverted_index.published | 44 |
| abstract_inverted_index.recruited | 28 |
| abstract_inverted_index.variants, | 146, 191 |
| abstract_inverted_index.variants. | 154 |
| abstract_inverted_index.variants; | 86 |
| abstract_inverted_index.Additional | 118 |
| abstract_inverted_index.Functional | 63 |
| abstract_inverted_index.anomalies, | 126 |
| abstract_inverted_index.associated | 151 |
| abstract_inverted_index.behavioral | 6, 112 |
| abstract_inverted_index.delineates | 193 |
| abstract_inverted_index.disorders, | 181 |
| abstract_inverted_index.disorders. | 26 |
| abstract_inverted_index.dysmorphic | 10 |
| abstract_inverted_index.functional | 185 |
| abstract_inverted_index.identified | 189 |
| abstract_inverted_index.landscape, | 18 |
| abstract_inverted_index.pathogenic | 163, 190 |
| abstract_inverted_index.phenotypic | 15, 175 |
| abstract_inverted_index.previously | 43, 79 |
| abstract_inverted_index.properties | 186 |
| abstract_inverted_index.published) | 80 |
| abstract_inverted_index.sequencing | 48, 52 |
| abstract_inverted_index.structural | 157 |
| abstract_inverted_index.truncating | 145 |
| abstract_inverted_index.destabilize | 165 |
| abstract_inverted_index.individuals | 23, 30, 77, 143 |
| abstract_inverted_index.psychiatric | 114 |
| abstract_inverted_index.segregation | 55 |
| abstract_inverted_index.unpublished | 29 |
| abstract_inverted_index.correlations | 21 |
| abstract_inverted_index.disturbances | 129 |
| abstract_inverted_index.dysmorphisms | 138 |
| abstract_inverted_index.individuals. | 45 |
| abstract_inverted_index.investigated | 13, 69 |
| abstract_inverted_index.DNA‐binding | 167 |
| abstract_inverted_index.comorbidities | 115 |
| abstract_inverted_index.correlations. | 196 |
| abstract_inverted_index.developmental | 4, 107 |
| abstract_inverted_index.difficulties, | 113 |
| abstract_inverted_index.dysmorphisms. | 117 |
| abstract_inverted_index.international | 35 |
| abstract_inverted_index.collaborations | 36 |
| abstract_inverted_index.comorbidities, | 122, 137 |
| abstract_inverted_index.hypermobility. | 132 |
| abstract_inverted_index.POU3F3‐related | 25, 180 |
| abstract_inverted_index.gastrointestinal | 121 |
| abstract_inverted_index.ophthalmological | 125 |
| abstract_inverted_index.genotype–phenotype | 20, 195 |
| cited_by_percentile_year.max | 97 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5066493415, https://openalex.org/A5100627750 |
| countries_distinct_count | 11 |
| institutions_distinct_count | 43 |
| corresponding_institution_ids | https://openalex.org/I124055696, https://openalex.org/I177969490, https://openalex.org/I25217355 |
| citation_normalized_percentile.value | 0.83367906 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |