Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy Article Swipe
Daniel Greene
,
Koenraad De Wispelaere
,
Jonathan Lees
,
Marta Codina‐Solà
,
Brynjar Ö. Jensson
,
Emma Hales
,
Andrea Katrinecz
,
Esther Molina
,
Sónia Pascoal
,
Rolph Pfundt
,
Rachel Schot
,
Marta Sevilla Porras
,
Frank Sleutels
,
Irene Valenzuela
,
Robin Wijngaard
,
I. Arroyo Carrera
,
Giles Atton
,
Dídac Casas‐Alba
,
Deirdre E. Donnelly
,
Anna Duat Rodríguez
,
Barbara Fernández Garoz
,
Nicola Foulds
,
D. Nunez
,
Elena González Alguacil
,
Joanna Jarvis
,
Sarina G. Kant
,
Irene Madrigal
,
Antonio F. Martinez-Monseny
,
Shane McKee
,
Nelmar Valentina Ortiz‐Cabrera
,
Leslie Bodi
,
Andrea Sariego Jamardo
,
Kári Stéfansson
,
Patrick Sulem
,
Mohnish Suri
,
Clara D.M. van Karnebeek
,
Pradeep Vasudevan
,
Ana Isabel Vega Pajares
,
Ãngel Carracedo
,
Marc Engelen
,
Pablo Lapunzina
,
Natasha P. Morgan
,
Beatriz Morte
,
Patrick Rump
,
Kathleen Stirrups
,
Eduardo F. Tizzano
,
Tahsin Stefan Barakat
,
Michael O’Donoghue
,
Luis A. Pérez‐Jurado
,
Kathleen Freson
,
Andrew Mumford
,
Ernest Turro
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1038/s41588-025-02159-5
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1038/s41588-025-02159-5
Related Topics
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1038/s41588-025-02159-5
- https://www.nature.com/articles/s41588-025-02159-5.pdf
- OA Status
- hybrid
- Cited By
- 15
- References
- 45
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4409340242
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4409340242Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1038/s41588-025-02159-5Digital Object Identifier
- Title
-
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-04-10Full publication date if available
- Authors
-
Daniel Greene, Koenraad De Wispelaere, Jonathan Lees, Marta Codina‐Solà, Brynjar Ö. Jensson, Emma Hales, Andrea Katrinecz, Esther Molina, Sónia Pascoal, Rolph Pfundt, Rachel Schot, Marta Sevilla Porras, Frank Sleutels, Irene Valenzuela, Robin Wijngaard, I. Arroyo Carrera, Giles Atton, Dídac Casas‐Alba, Deirdre E. Donnelly, Anna Duat Rodríguez, Barbara Fernández Garoz, Nicola Foulds, D. Nunez, Elena González Alguacil, Joanna Jarvis, Sarina G. Kant, Irene Madrigal, Antonio F. Martinez-Monseny, Shane McKee, Nelmar Valentina Ortiz‐Cabrera, Leslie Bodi, Andrea Sariego Jamardo, Kári Stéfansson, Patrick Sulem, Mohnish Suri, Clara D.M. van Karnebeek, Pradeep Vasudevan, Ana Isabel Vega Pajares, Ãngel Carracedo, Marc Engelen, Pablo Lapunzina, Natasha P. Morgan, Beatriz Morte, Patrick Rump, Kathleen Stirrups, Eduardo F. Tizzano, Tahsin Stefan Barakat, Michael O’Donoghue, Luis A. Pérez‐Jurado, Kathleen Freson, Andrew Mumford, Ernest TurroList of authors in order
- Landing page
-
https://doi.org/10.1038/s41588-025-02159-5Publisher landing page
- PDF URL
-
https://www.nature.com/articles/s41588-025-02159-5.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
-
https://www.nature.com/articles/s41588-025-02159-5.pdfDirect OA link when available
- Concepts
-
Biology, Epilepsy, Genetics, Gene, Mutation, Bioinformatics, NeuroscienceTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
15Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 15Per-year citation counts (last 5 years)
- References (count)
-
45Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4409340242 |
|---|---|
| doi | https://doi.org/10.1038/s41588-025-02159-5 |
| ids.doi | https://doi.org/10.1038/s41588-025-02159-5 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/40210679 |
| ids.openalex | https://openalex.org/W4409340242 |
| fwci | 95.3772552 |
| mesh[0].qualifier_ui | |
| mesh[0].descriptor_ui | D006801 |
| mesh[0].is_major_topic | False |
| mesh[0].qualifier_name | |
| mesh[0].descriptor_name | Humans |
| mesh[1].qualifier_ui | Q000235 |
| mesh[1].descriptor_ui | D012342 |
| mesh[1].is_major_topic | True |
| mesh[1].qualifier_name | genetics |
| mesh[1].descriptor_name | RNA, Small Nuclear |
| mesh[2].qualifier_ui | Q000235 |
| mesh[2].descriptor_ui | D065886 |
| mesh[2].is_major_topic | True |
| mesh[2].qualifier_name | genetics |
| mesh[2].descriptor_name | Neurodevelopmental Disorders |
| mesh[3].qualifier_ui | Q000235 |
| mesh[3].descriptor_ui | D004827 |
| mesh[3].is_major_topic | True |
| mesh[3].qualifier_name | genetics |
| mesh[3].descriptor_name | Epilepsy |
| mesh[4].qualifier_ui | |
| mesh[4].descriptor_ui | D008297 |
| mesh[4].is_major_topic | False |
| mesh[4].qualifier_name | |
| mesh[4].descriptor_name | Male |
| mesh[5].qualifier_ui | |
| mesh[5].descriptor_ui | D005260 |
| mesh[5].is_major_topic | False |
| mesh[5].qualifier_name | |
| mesh[5].descriptor_name | Female |
| mesh[6].qualifier_ui | |
| mesh[6].descriptor_ui | D002648 |
| mesh[6].is_major_topic | False |
| mesh[6].qualifier_name | |
| mesh[6].descriptor_name | Child |
| mesh[7].qualifier_ui | |
| mesh[7].descriptor_ui | D009154 |
| mesh[7].is_major_topic | False |
| mesh[7].qualifier_name | |
| mesh[7].descriptor_name | Mutation |
| mesh[8].qualifier_ui | |
| mesh[8].descriptor_ui | D002675 |
| mesh[8].is_major_topic | False |
| mesh[8].qualifier_name | |
| mesh[8].descriptor_name | Child, Preschool |
| mesh[9].qualifier_ui | Q000235 |
| mesh[9].descriptor_ui | D008607 |
| mesh[9].is_major_topic | False |
| mesh[9].qualifier_name | genetics |
| mesh[9].descriptor_name | Intellectual Disability |
| mesh[10].qualifier_ui | Q000235 |
| mesh[10].descriptor_ui | D008831 |
| mesh[10].is_major_topic | False |
| mesh[10].qualifier_name | genetics |
| mesh[10].descriptor_name | Microcephaly |
| mesh[11].qualifier_ui | Q000235 |
| mesh[11].descriptor_ui | D011544 |
| mesh[11].is_major_topic | False |
| mesh[11].qualifier_name | genetics |
| mesh[11].descriptor_name | Pseudogenes |
| mesh[12].qualifier_ui | |
| mesh[12].descriptor_ui | D018095 |
| mesh[12].is_major_topic | False |
| mesh[12].qualifier_name | |
| mesh[12].descriptor_name | Germ-Line Mutation |
| mesh[13].qualifier_ui | |
| mesh[13].descriptor_ui | D000293 |
| mesh[13].is_major_topic | False |
| mesh[13].qualifier_name | |
| mesh[13].descriptor_name | Adolescent |
| mesh[14].qualifier_ui | |
| mesh[14].descriptor_ui | D006801 |
| mesh[14].is_major_topic | False |
| mesh[14].qualifier_name | |
| mesh[14].descriptor_name | Humans |
| mesh[15].qualifier_ui | Q000235 |
| mesh[15].descriptor_ui | D012342 |
| mesh[15].is_major_topic | True |
| mesh[15].qualifier_name | genetics |
| mesh[15].descriptor_name | RNA, Small Nuclear |
| mesh[16].qualifier_ui | Q000235 |
| mesh[16].descriptor_ui | D065886 |
| mesh[16].is_major_topic | True |
| mesh[16].qualifier_name | genetics |
| mesh[16].descriptor_name | Neurodevelopmental Disorders |
| mesh[17].qualifier_ui | Q000235 |
| mesh[17].descriptor_ui | D004827 |
| mesh[17].is_major_topic | True |
| mesh[17].qualifier_name | genetics |
| mesh[17].descriptor_name | Epilepsy |
| mesh[18].qualifier_ui | |
| mesh[18].descriptor_ui | D008297 |
| mesh[18].is_major_topic | False |
| mesh[18].qualifier_name | |
| mesh[18].descriptor_name | Male |
| mesh[19].qualifier_ui | |
| mesh[19].descriptor_ui | D005260 |
| mesh[19].is_major_topic | False |
| mesh[19].qualifier_name | |
| mesh[19].descriptor_name | Female |
| mesh[20].qualifier_ui | |
| mesh[20].descriptor_ui | D002648 |
| mesh[20].is_major_topic | False |
| mesh[20].qualifier_name | |
| mesh[20].descriptor_name | Child |
| mesh[21].qualifier_ui | |
| mesh[21].descriptor_ui | D009154 |
| mesh[21].is_major_topic | False |
| mesh[21].qualifier_name | |
| mesh[21].descriptor_name | Mutation |
| mesh[22].qualifier_ui | |
| mesh[22].descriptor_ui | D002675 |
| mesh[22].is_major_topic | False |
| mesh[22].qualifier_name | |
| mesh[22].descriptor_name | Child, Preschool |
| mesh[23].qualifier_ui | Q000235 |
| mesh[23].descriptor_ui | D008607 |
| mesh[23].is_major_topic | False |
| mesh[23].qualifier_name | genetics |
| mesh[23].descriptor_name | Intellectual Disability |
| mesh[24].qualifier_ui | Q000235 |
| mesh[24].descriptor_ui | D008831 |
| mesh[24].is_major_topic | False |
| mesh[24].qualifier_name | genetics |
| mesh[24].descriptor_name | Microcephaly |
| mesh[25].qualifier_ui | Q000235 |
| mesh[25].descriptor_ui | D011544 |
| mesh[25].is_major_topic | False |
| mesh[25].qualifier_name | genetics |
| mesh[25].descriptor_name | Pseudogenes |
| mesh[26].qualifier_ui | |
| mesh[26].descriptor_ui | D018095 |
| mesh[26].is_major_topic | False |
| mesh[26].qualifier_name | |
| mesh[26].descriptor_name | Germ-Line Mutation |
| mesh[27].qualifier_ui | |
| mesh[27].descriptor_ui | D000293 |
| mesh[27].is_major_topic | False |
| mesh[27].qualifier_name | |
| mesh[27].descriptor_name | Adolescent |
| mesh[28].qualifier_ui | |
| mesh[28].descriptor_ui | D006801 |
| mesh[28].is_major_topic | False |
| mesh[28].qualifier_name | |
| mesh[28].descriptor_name | Humans |
| mesh[29].qualifier_ui | Q000235 |
| mesh[29].descriptor_ui | D012342 |
| mesh[29].is_major_topic | True |
| mesh[29].qualifier_name | genetics |
| mesh[29].descriptor_name | RNA, Small Nuclear |
| mesh[30].qualifier_ui | Q000235 |
| mesh[30].descriptor_ui | D065886 |
| mesh[30].is_major_topic | True |
| mesh[30].qualifier_name | genetics |
| mesh[30].descriptor_name | Neurodevelopmental Disorders |
| mesh[31].qualifier_ui | Q000235 |
| mesh[31].descriptor_ui | D004827 |
| mesh[31].is_major_topic | True |
| mesh[31].qualifier_name | genetics |
| mesh[31].descriptor_name | Epilepsy |
| mesh[32].qualifier_ui | |
| mesh[32].descriptor_ui | D008297 |
| mesh[32].is_major_topic | False |
| mesh[32].qualifier_name | |
| mesh[32].descriptor_name | Male |
| mesh[33].qualifier_ui | |
| mesh[33].descriptor_ui | D005260 |
| mesh[33].is_major_topic | False |
| mesh[33].qualifier_name | |
| mesh[33].descriptor_name | Female |
| mesh[34].qualifier_ui | |
| mesh[34].descriptor_ui | D002648 |
| mesh[34].is_major_topic | False |
| mesh[34].qualifier_name | |
| mesh[34].descriptor_name | Child |
| mesh[35].qualifier_ui | |
| mesh[35].descriptor_ui | D009154 |
| mesh[35].is_major_topic | False |
| mesh[35].qualifier_name | |
| mesh[35].descriptor_name | Mutation |
| mesh[36].qualifier_ui | |
| mesh[36].descriptor_ui | D002675 |
| mesh[36].is_major_topic | False |
| mesh[36].qualifier_name | |
| mesh[36].descriptor_name | Child, Preschool |
| mesh[37].qualifier_ui | Q000235 |
| mesh[37].descriptor_ui | D008607 |
| mesh[37].is_major_topic | False |
| mesh[37].qualifier_name | genetics |
| mesh[37].descriptor_name | Intellectual Disability |
| mesh[38].qualifier_ui | Q000235 |
| mesh[38].descriptor_ui | D008831 |
| mesh[38].is_major_topic | False |
| mesh[38].qualifier_name | genetics |
| mesh[38].descriptor_name | Microcephaly |
| mesh[39].qualifier_ui | Q000235 |
| mesh[39].descriptor_ui | D011544 |
| mesh[39].is_major_topic | False |
| mesh[39].qualifier_name | genetics |
| mesh[39].descriptor_name | Pseudogenes |
| mesh[40].qualifier_ui | |
| mesh[40].descriptor_ui | D018095 |
| mesh[40].is_major_topic | False |
| mesh[40].qualifier_name | |
| mesh[40].descriptor_name | Germ-Line Mutation |
| mesh[41].qualifier_ui | |
| mesh[41].descriptor_ui | D000293 |
| mesh[41].is_major_topic | False |
| mesh[41].qualifier_name | |
| mesh[41].descriptor_name | Adolescent |
| type | article |
| title | Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy |
| biblio.issue | 6 |
| biblio.volume | 57 |
| biblio.last_page | 1373 |
| biblio.first_page | 1367 |
| grants[0].funder | https://openalex.org/F4320337338 |
| grants[0].award_id | R01HL161365 |
| grants[0].funder_display_name | National Heart, Lung, and Blood Institute |
| grants[1].funder | https://openalex.org/F4320337611 |
| grants[1].award_id | R03HD111492 |
| grants[1].funder_display_name | Eunice Kennedy Shriver National Institute of Child Health and Human Development |
| topics[0].id | https://openalex.org/T11772 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9994999766349792 |
| topics[0].domain.id | https://openalex.org/domains/1 |
| topics[0].domain.display_name | Life Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/1311 |
| topics[0].subfield.display_name | Genetics |
| topics[0].display_name | Genetics and Neurodevelopmental Disorders |
| topics[1].id | https://openalex.org/T11642 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9994000196456909 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1311 |
| topics[1].subfield.display_name | Genetics |
| topics[1].display_name | Genomics and Rare Diseases |
| topics[2].id | https://openalex.org/T10521 |
| topics[2].field.id | https://openalex.org/fields/13 |
| topics[2].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[2].score | 0.9990000128746033 |
| topics[2].domain.id | https://openalex.org/domains/1 |
| topics[2].domain.display_name | Life Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/1312 |
| topics[2].subfield.display_name | Molecular Biology |
| topics[2].display_name | RNA and protein synthesis mechanisms |
| funders[0].id | https://openalex.org/F4320337338 |
| funders[0].ror | https://ror.org/012pb6c26 |
| funders[0].display_name | National Heart, Lung, and Blood Institute |
| funders[1].id | https://openalex.org/F4320337611 |
| funders[1].ror | https://ror.org/04byxyr05 |
| funders[1].display_name | Eunice Kennedy Shriver National Institute of Child Health and Human Development |
| is_xpac | False |
| apc_list.value | 9750 |
| apc_list.currency | EUR |
| apc_list.value_usd | 11690 |
| apc_paid.value | 9750 |
| apc_paid.currency | EUR |
| apc_paid.value_usd | 11690 |
| concepts[0].id | https://openalex.org/C86803240 |
| concepts[0].level | 0 |
| concepts[0].score | 0.8701859712600708 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[0].display_name | Biology |
| concepts[1].id | https://openalex.org/C2778186239 |
| concepts[1].level | 2 |
| concepts[1].score | 0.7188176512718201 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q41571 |
| concepts[1].display_name | Epilepsy |
| concepts[2].id | https://openalex.org/C54355233 |
| concepts[2].level | 1 |
| concepts[2].score | 0.6268231272697449 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[2].display_name | Genetics |
| concepts[3].id | https://openalex.org/C104317684 |
| concepts[3].level | 2 |
| concepts[3].score | 0.5726462006568909 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[3].display_name | Gene |
| concepts[4].id | https://openalex.org/C501734568 |
| concepts[4].level | 3 |
| concepts[4].score | 0.43563491106033325 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q42918 |
| concepts[4].display_name | Mutation |
| concepts[5].id | https://openalex.org/C60644358 |
| concepts[5].level | 1 |
| concepts[5].score | 0.32869693636894226 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q128570 |
| concepts[5].display_name | Bioinformatics |
| concepts[6].id | https://openalex.org/C169760540 |
| concepts[6].level | 1 |
| concepts[6].score | 0.16304290294647217 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q207011 |
| concepts[6].display_name | Neuroscience |
| keywords[0].id | https://openalex.org/keywords/biology |
| keywords[0].score | 0.8701859712600708 |
| keywords[0].display_name | Biology |
| keywords[1].id | https://openalex.org/keywords/epilepsy |
| keywords[1].score | 0.7188176512718201 |
| keywords[1].display_name | Epilepsy |
| keywords[2].id | https://openalex.org/keywords/genetics |
| keywords[2].score | 0.6268231272697449 |
| keywords[2].display_name | Genetics |
| keywords[3].id | https://openalex.org/keywords/gene |
| keywords[3].score | 0.5726462006568909 |
| keywords[3].display_name | Gene |
| keywords[4].id | https://openalex.org/keywords/mutation |
| keywords[4].score | 0.43563491106033325 |
| keywords[4].display_name | Mutation |
| keywords[5].id | https://openalex.org/keywords/bioinformatics |
| keywords[5].score | 0.32869693636894226 |
| keywords[5].display_name | Bioinformatics |
| keywords[6].id | https://openalex.org/keywords/neuroscience |
| keywords[6].score | 0.16304290294647217 |
| keywords[6].display_name | Neuroscience |
| language | en |
| locations[0].id | doi:10.1038/s41588-025-02159-5 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S137905309 |
| locations[0].source.issn | 1061-4036, 1546-1718 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | False |
| locations[0].source.issn_l | 1061-4036 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | False |
| locations[0].source.display_name | Nature Genetics |
| locations[0].source.host_organization | https://openalex.org/P4310319908 |
| locations[0].source.host_organization_name | Nature Portfolio |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310319908 |
| locations[0].license | cc-by-nc-nd |
| locations[0].pdf_url | https://www.nature.com/articles/s41588-025-02159-5.pdf |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | https://openalex.org/licenses/cc-by-nc-nd |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | Nature Genetics |
| locations[0].landing_page_url | https://doi.org/10.1038/s41588-025-02159-5 |
| locations[1].id | pmid:40210679 |
| locations[1].is_oa | False |
| locations[1].source.id | https://openalex.org/S4306525036 |
| locations[1].source.issn | |
| locations[1].source.type | repository |
| locations[1].source.is_oa | False |
| locations[1].source.issn_l | |
| locations[1].source.is_core | False |
| locations[1].source.is_in_doaj | False |
| locations[1].source.display_name | PubMed |
| locations[1].source.host_organization | https://openalex.org/I1299303238 |
| locations[1].source.host_organization_name | National Institutes of Health |
| locations[1].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[1].license | |
| locations[1].pdf_url | |
| locations[1].version | publishedVersion |
| locations[1].raw_type | |
| locations[1].license_id | |
| locations[1].is_accepted | True |
| locations[1].is_published | True |
| locations[1].raw_source_name | Nature genetics |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/40210679 |
| locations[2].id | pmh:oai:pure.rug.nl:openaire/27c121bb-73e6-4f5d-9fc9-f3c9c3c36926 |
| locations[2].is_oa | False |
| locations[2].source.id | https://openalex.org/S4306400420 |
| 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 | University of Groningen research database (University of Groningen / Centre for Information Technology) |
| locations[2].source.host_organization | https://openalex.org/I169381384 |
| locations[2].source.host_organization_name | University of Groningen |
| locations[2].source.host_organization_lineage | https://openalex.org/I169381384 |
| locations[2].license | |
| locations[2].pdf_url | |
| locations[2].version | submittedVersion |
| locations[2].raw_type | article |
| locations[2].license_id | |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | Greene, D, De Wispelaere, K, Lees, J, Codina-Solà, M, Jensson, B O, Hales, E, Katrinecz, A, Nieto Molina, E, Pascoal, S, Pfundt, R, Schot, R, Sevilla Porras, M, Sleutels, F, Valenzuela, I, Wijngaard, R, Arroyo Carrera, I, Atton, G, Casas-Alba, D, Donnelly, D, Duat Rodríguez, A, Fernández Garoz, B, Foulds, N, García-Navas Núñez, D, González Alguacil, E, Jarvis, J, Kant, S G, Madrigal Bajo, I, Martinez-Monseny, A F, McKee, S, Ortiz Cabrera, N V, Rodríguez-Revenga Bodi, L, Sariego Jamardo, A, Stefansson, K, Sulem, P, Suri, M, Van Karnebeek, C, Vasudevan, P, Vega Pajares, A I, Carracedo, Á, Engelen, M, Lapunzina, P, Morgan, N P, Morte, B, Rump, P, Stirrups, K, Tizzano, E F, Barakat, T S, O'Donoghue, M, Pérez-Jurado, L A, Freson, K, Mumford, A D & Turro, E 2025, 'Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy', Nature genetics, vol. 57, pp. 1367–1373. https://doi.org/10.1038/s41588-025-02159-5 |
| locations[2].landing_page_url | https://research.rug.nl/en/publications/27c121bb-73e6-4f5d-9fc9-f3c9c3c36926 |
| locations[3].id | pmh:oai:europepmc.org:10976831 |
| locations[3].is_oa | True |
| locations[3].source.id | https://openalex.org/S4306400806 |
| 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 | Europe PMC (PubMed Central) |
| locations[3].source.host_organization | https://openalex.org/I1303153112 |
| locations[3].source.host_organization_name | European Bioinformatics Institute |
| locations[3].source.host_organization_lineage | https://openalex.org/I1303153112 |
| locations[3].license | other-oa |
| locations[3].pdf_url | |
| locations[3].version | submittedVersion |
| locations[3].raw_type | Text |
| locations[3].license_id | https://openalex.org/licenses/other-oa |
| locations[3].is_accepted | False |
| locations[3].is_published | False |
| locations[3].raw_source_name | |
| locations[3].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/12165851 |
| locations[4].id | pmh:oai:repository.ubn.ru.nl:2066/320178 |
| locations[4].is_oa | False |
| locations[4].source.id | https://openalex.org/S4306401067 |
| locations[4].source.issn | |
| locations[4].source.type | repository |
| locations[4].source.is_oa | False |
| locations[4].source.issn_l | |
| locations[4].source.is_core | False |
| locations[4].source.is_in_doaj | False |
| locations[4].source.display_name | Radboud Repository (Radboud University) |
| locations[4].source.host_organization | https://openalex.org/I145872427 |
| locations[4].source.host_organization_name | Radboud University Nijmegen |
| locations[4].source.host_organization_lineage | https://openalex.org/I145872427 |
| locations[4].license | |
| locations[4].pdf_url | |
| locations[4].version | submittedVersion |
| locations[4].raw_type | Article / Letter to editor |
| locations[4].license_id | |
| locations[4].is_accepted | False |
| locations[4].is_published | False |
| locations[4].raw_source_name | |
| locations[4].landing_page_url | https://hdl.handle.net/2066/320178 |
| indexed_in | crossref, pubmed |
| authorships[0].author.id | https://openalex.org/A5054973731 |
| authorships[0].author.orcid | https://orcid.org/0000-0003-3088-2385 |
| authorships[0].author.display_name | Daniel Greene |
| authorships[0].countries | GB, US |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I98704320 |
| authorships[0].affiliations[0].raw_affiliation_string | Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. |
| authorships[0].affiliations[1].institution_ids | https://openalex.org/I241749 |
| authorships[0].affiliations[1].raw_affiliation_string | Department of Medicine, University of Cambridge, Cambridge, UK. |
| authorships[0].institutions[0].id | https://openalex.org/I241749 |
| authorships[0].institutions[0].ror | https://ror.org/013meh722 |
| authorships[0].institutions[0].type | education |
| authorships[0].institutions[0].lineage | https://openalex.org/I241749 |
| authorships[0].institutions[0].country_code | GB |
| authorships[0].institutions[0].display_name | University of Cambridge |
| authorships[0].institutions[1].id | https://openalex.org/I98704320 |
| authorships[0].institutions[1].ror | https://ror.org/04a9tmd77 |
| authorships[0].institutions[1].type | education |
| authorships[0].institutions[1].lineage | https://openalex.org/I1320796813, https://openalex.org/I98704320 |
| authorships[0].institutions[1].country_code | US |
| authorships[0].institutions[1].display_name | Icahn School of Medicine at Mount Sinai |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Daniel Greene |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Department of Medicine, University of Cambridge, Cambridge, UK. |
| authorships[1].author.id | https://openalex.org/A5003373747 |
| authorships[1].author.orcid | https://orcid.org/0000-0003-1946-3024 |
| authorships[1].author.display_name | Koenraad De Wispelaere |
| authorships[1].countries | BE, US |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I99464096 |
| authorships[1].affiliations[0].raw_affiliation_string | Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium. |
| authorships[1].affiliations[1].institution_ids | https://openalex.org/I98704320 |
| authorships[1].affiliations[1].raw_affiliation_string | Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. |
| authorships[1].institutions[0].id | https://openalex.org/I99464096 |
| authorships[1].institutions[0].ror | https://ror.org/05f950310 |
| authorships[1].institutions[0].type | education |
| authorships[1].institutions[0].lineage | https://openalex.org/I99464096 |
| authorships[1].institutions[0].country_code | BE |
| authorships[1].institutions[0].display_name | KU Leuven |
| authorships[1].institutions[1].id | https://openalex.org/I98704320 |
| authorships[1].institutions[1].ror | https://ror.org/04a9tmd77 |
| authorships[1].institutions[1].type | education |
| authorships[1].institutions[1].lineage | https://openalex.org/I1320796813, https://openalex.org/I98704320 |
| authorships[1].institutions[1].country_code | US |
| authorships[1].institutions[1].display_name | Icahn School of Medicine at Mount Sinai |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Koenraad De Wispelaere |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium., Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. |
| authorships[2].author.id | https://openalex.org/A5029559361 |
| authorships[2].author.orcid | https://orcid.org/0000-0003-3925-1424 |
| authorships[2].author.display_name | Jonathan Lees |
| authorships[2].countries | GB |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I36234482 |
| authorships[2].affiliations[0].raw_affiliation_string | Bristol Medical School, University of Bristol, Bristol, UK. |
| authorships[2].institutions[0].id | https://openalex.org/I36234482 |
| authorships[2].institutions[0].ror | https://ror.org/0524sp257 |
| authorships[2].institutions[0].type | education |
| authorships[2].institutions[0].lineage | https://openalex.org/I36234482 |
| authorships[2].institutions[0].country_code | GB |
| authorships[2].institutions[0].display_name | University of Bristol |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Jon Lees |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Bristol Medical School, University of Bristol, Bristol, UK. |
| authorships[3].author.id | https://openalex.org/A5001079131 |
| authorships[3].author.orcid | https://orcid.org/0000-0002-5382-413X |
| authorships[3].author.display_name | Marta Codina‐Solà |
| authorships[3].countries | ES |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I4210127641 |
| authorships[3].affiliations[0].raw_affiliation_string | Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain. |
| authorships[3].affiliations[1].institution_ids | https://openalex.org/I4210102407 |
| authorships[3].affiliations[1].raw_affiliation_string | Medicine Genetics Group Vall d'Hebron Research Institute, Barcelona, Spain. |
| authorships[3].institutions[0].id | https://openalex.org/I4210127641 |
| authorships[3].institutions[0].ror | https://ror.org/03ba28x55 |
| authorships[3].institutions[0].type | healthcare |
| authorships[3].institutions[0].lineage | https://openalex.org/I4210127641 |
| authorships[3].institutions[0].country_code | ES |
| authorships[3].institutions[0].display_name | Vall d'Hebron Hospital Universitari |
| authorships[3].institutions[1].id | https://openalex.org/I4210102407 |
| authorships[3].institutions[1].ror | https://ror.org/01d5vx451 |
| authorships[3].institutions[1].type | facility |
| authorships[3].institutions[1].lineage | https://openalex.org/I4210102407, https://openalex.org/I4387153040 |
| authorships[3].institutions[1].country_code | ES |
| authorships[3].institutions[1].display_name | Vall d'Hebron Institut de Recerca |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Marta Codina-Solà |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Medicine Genetics Group Vall d'Hebron Research Institute, Barcelona, Spain. |
| authorships[4].author.id | https://openalex.org/A5076860274 |
| authorships[4].author.orcid | https://orcid.org/0000-0002-2252-4134 |
| authorships[4].author.display_name | Brynjar Ö. Jensson |
| authorships[4].countries | IS |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I1327191685 |
| authorships[4].affiliations[0].raw_affiliation_string | deCODE genetics/Amgen Inc., Reykjavik, Iceland. |
| authorships[4].institutions[0].id | https://openalex.org/I1327191685 |
| authorships[4].institutions[0].ror | https://ror.org/04dzdm737 |
| authorships[4].institutions[0].type | company |
| authorships[4].institutions[0].lineage | https://openalex.org/I1327191685 |
| authorships[4].institutions[0].country_code | IS |
| authorships[4].institutions[0].display_name | deCODE Genetics (Iceland) |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Brynjar O Jensson |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | deCODE genetics/Amgen Inc., Reykjavik, Iceland. |
| authorships[5].author.id | https://openalex.org/A5113370132 |
| authorships[5].author.orcid | |
| authorships[5].author.display_name | Emma Hales |
| authorships[5].countries | GB |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I241749 |
| authorships[5].affiliations[0].raw_affiliation_string | Department of Haematology, School of Clinical Medicine, University of Cambridge, Cambridge, UK. |
| authorships[5].affiliations[1].institution_ids | https://openalex.org/I241749 |
| authorships[5].affiliations[1].raw_affiliation_string | NIHR BioResource, Cambridge University Hospitals, Cambridge, UK. |
| authorships[5].institutions[0].id | https://openalex.org/I241749 |
| authorships[5].institutions[0].ror | https://ror.org/013meh722 |
| authorships[5].institutions[0].type | education |
| authorships[5].institutions[0].lineage | https://openalex.org/I241749 |
| authorships[5].institutions[0].country_code | GB |
| authorships[5].institutions[0].display_name | University of Cambridge |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Emma Hales |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Department of Haematology, School of Clinical Medicine, University of Cambridge, Cambridge, UK., NIHR BioResource, Cambridge University Hospitals, Cambridge, UK. |
| authorships[6].author.id | https://openalex.org/A5107023263 |
| authorships[6].author.orcid | |
| authorships[6].author.display_name | Andrea Katrinecz |
| authorships[6].countries | GB |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I241749 |
| authorships[6].affiliations[0].raw_affiliation_string | Department of Haematology, School of Clinical Medicine, University of Cambridge, Cambridge, UK. |
| authorships[6].affiliations[1].institution_ids | https://openalex.org/I241749 |
| authorships[6].affiliations[1].raw_affiliation_string | NIHR BioResource, Cambridge University Hospitals, Cambridge, UK. |
| authorships[6].institutions[0].id | https://openalex.org/I241749 |
| authorships[6].institutions[0].ror | https://ror.org/013meh722 |
| authorships[6].institutions[0].type | education |
| authorships[6].institutions[0].lineage | https://openalex.org/I241749 |
| authorships[6].institutions[0].country_code | GB |
| authorships[6].institutions[0].display_name | University of Cambridge |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Andrea Katrinecz |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Department of Haematology, School of Clinical Medicine, University of Cambridge, Cambridge, UK., NIHR BioResource, Cambridge University Hospitals, Cambridge, UK. |
| authorships[7].author.id | https://openalex.org/A5079343036 |
| authorships[7].author.orcid | https://orcid.org/0000-0002-0771-7608 |
| authorships[7].author.display_name | Esther Molina |
| authorships[7].countries | ES |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I4210086910 |
| authorships[7].affiliations[0].raw_affiliation_string | Andalusian Platform for Computational Medicine, Andalusian Public Foundation Progress and Health-FPS, Seville, Spain. |
| authorships[7].institutions[0].id | https://openalex.org/I4210086910 |
| authorships[7].institutions[0].ror | https://ror.org/0048t7e91 |
| authorships[7].institutions[0].type | other |
| authorships[7].institutions[0].lineage | https://openalex.org/I4210086910, https://openalex.org/I4210152975, https://openalex.org/I918821925 |
| authorships[7].institutions[0].country_code | ES |
| authorships[7].institutions[0].display_name | Fundación Progreso y Salud |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Esther Nieto Molina |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Andalusian Platform for Computational Medicine, Andalusian Public Foundation Progress and Health-FPS, Seville, Spain. |
| authorships[8].author.id | https://openalex.org/A5075339947 |
| authorships[8].author.orcid | https://orcid.org/0000-0002-8249-984X |
| authorships[8].author.display_name | Sónia Pascoal |
| authorships[8].countries | GB |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I241749 |
| authorships[8].affiliations[0].raw_affiliation_string | NIHR BioResource, Cambridge University Hospitals, Cambridge, UK. |
| authorships[8].affiliations[1].institution_ids | https://openalex.org/I241749 |
| authorships[8].affiliations[1].raw_affiliation_string | Department of Haematology, School of Clinical Medicine, University of Cambridge, Cambridge, UK. |
| authorships[8].institutions[0].id | https://openalex.org/I241749 |
| authorships[8].institutions[0].ror | https://ror.org/013meh722 |
| authorships[8].institutions[0].type | education |
| authorships[8].institutions[0].lineage | https://openalex.org/I241749 |
| authorships[8].institutions[0].country_code | GB |
| authorships[8].institutions[0].display_name | University of Cambridge |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Sonia Pascoal |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Department of Haematology, School of Clinical Medicine, University of Cambridge, Cambridge, UK., NIHR BioResource, Cambridge University Hospitals, Cambridge, UK. |
| authorships[9].author.id | https://openalex.org/A5016312541 |
| authorships[9].author.orcid | https://orcid.org/0000-0002-0584-4398 |
| authorships[9].author.display_name | Rolph Pfundt |
| authorships[9].countries | NL |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I145872427, https://openalex.org/I2802934949 |
| authorships[9].affiliations[0].raw_affiliation_string | Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. |
| authorships[9].institutions[0].id | https://openalex.org/I2802934949 |
| authorships[9].institutions[0].ror | https://ror.org/05wg1m734 |
| authorships[9].institutions[0].type | healthcare |
| authorships[9].institutions[0].lineage | https://openalex.org/I2802934949 |
| authorships[9].institutions[0].country_code | NL |
| authorships[9].institutions[0].display_name | Radboud University Medical Center |
| authorships[9].institutions[1].id | https://openalex.org/I145872427 |
| authorships[9].institutions[1].ror | https://ror.org/016xsfp80 |
| authorships[9].institutions[1].type | education |
| authorships[9].institutions[1].lineage | https://openalex.org/I145872427 |
| authorships[9].institutions[1].country_code | NL |
| authorships[9].institutions[1].display_name | Radboud University Nijmegen |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Rolph Pfundt |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. |
| authorships[10].author.id | https://openalex.org/A5023640761 |
| authorships[10].author.orcid | https://orcid.org/0000-0001-9578-4095 |
| authorships[10].author.display_name | Rachel Schot |
| authorships[10].countries | NL |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[10].affiliations[0].raw_affiliation_string | Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands. |
| authorships[10].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[10].institutions[0].ror | https://ror.org/018906e22 |
| authorships[10].institutions[0].type | healthcare |
| authorships[10].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[10].institutions[0].country_code | NL |
| authorships[10].institutions[0].display_name | Erasmus MC |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Rachel Schot |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands. |
| authorships[11].author.id | https://openalex.org/A5059733652 |
| authorships[11].author.orcid | |
| authorships[11].author.display_name | Marta Sevilla Porras |
| authorships[11].countries | ES |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I2801357902, https://openalex.org/I4210111366 |
| authorships[11].affiliations[0].raw_affiliation_string | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. |
| authorships[11].affiliations[1].institution_ids | https://openalex.org/I170486558 |
| authorships[11].affiliations[1].raw_affiliation_string | Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Barcelona, Spain. |
| authorships[11].institutions[0].id | https://openalex.org/I4210111366 |
| authorships[11].institutions[0].ror | https://ror.org/01ygm5w19 |
| authorships[11].institutions[0].type | facility |
| authorships[11].institutions[0].lineage | https://openalex.org/I4210111366 |
| authorships[11].institutions[0].country_code | ES |
| authorships[11].institutions[0].display_name | Centre for Biomedical Network Research on Rare Diseases |
| authorships[11].institutions[1].id | https://openalex.org/I2801357902 |
| authorships[11].institutions[1].ror | https://ror.org/00ca2c886 |
| authorships[11].institutions[1].type | nonprofit |
| authorships[11].institutions[1].lineage | https://openalex.org/I2801357902, https://openalex.org/I4387152914 |
| authorships[11].institutions[1].country_code | ES |
| authorships[11].institutions[1].display_name | Instituto de Salud Carlos III |
| authorships[11].institutions[2].id | https://openalex.org/I170486558 |
| authorships[11].institutions[2].ror | https://ror.org/04n0g0b29 |
| authorships[11].institutions[2].type | education |
| authorships[11].institutions[2].lineage | https://openalex.org/I170486558 |
| authorships[11].institutions[2].country_code | ES |
| authorships[11].institutions[2].display_name | Universitat Pompeu Fabra |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Marta Sevilla Porras |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Barcelona, Spain. |
| authorships[12].author.id | https://openalex.org/A5080691883 |
| authorships[12].author.orcid | https://orcid.org/0000-0001-6813-5209 |
| authorships[12].author.display_name | Frank Sleutels |
| authorships[12].countries | NL |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[12].affiliations[0].raw_affiliation_string | Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands. |
| authorships[12].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[12].institutions[0].ror | https://ror.org/018906e22 |
| authorships[12].institutions[0].type | healthcare |
| authorships[12].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[12].institutions[0].country_code | NL |
| authorships[12].institutions[0].display_name | Erasmus MC |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | Frank Sleutels |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands. |
| authorships[13].author.id | https://openalex.org/A5016974412 |
| authorships[13].author.orcid | https://orcid.org/0000-0003-2350-6058 |
| authorships[13].author.display_name | Irene Valenzuela |
| authorships[13].countries | ES |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I4210127641 |
| authorships[13].affiliations[0].raw_affiliation_string | Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain. |
| authorships[13].affiliations[1].institution_ids | https://openalex.org/I4210102407 |
| authorships[13].affiliations[1].raw_affiliation_string | Medicine Genetics Group Vall d'Hebron Research Institute, Barcelona, Spain. |
| authorships[13].institutions[0].id | https://openalex.org/I4210127641 |
| authorships[13].institutions[0].ror | https://ror.org/03ba28x55 |
| authorships[13].institutions[0].type | healthcare |
| authorships[13].institutions[0].lineage | https://openalex.org/I4210127641 |
| authorships[13].institutions[0].country_code | ES |
| authorships[13].institutions[0].display_name | Vall d'Hebron Hospital Universitari |
| authorships[13].institutions[1].id | https://openalex.org/I4210102407 |
| authorships[13].institutions[1].ror | https://ror.org/01d5vx451 |
| authorships[13].institutions[1].type | facility |
| authorships[13].institutions[1].lineage | https://openalex.org/I4210102407, https://openalex.org/I4387153040 |
| authorships[13].institutions[1].country_code | ES |
| authorships[13].institutions[1].display_name | Vall d'Hebron Institut de Recerca |
| authorships[13].author_position | middle |
| authorships[13].raw_author_name | Irene Valenzuela |
| authorships[13].is_corresponding | False |
| authorships[13].raw_affiliation_strings | Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Medicine Genetics Group Vall d'Hebron Research Institute, Barcelona, Spain. |
| authorships[14].author.id | https://openalex.org/A5038525673 |
| authorships[14].author.orcid | |
| authorships[14].author.display_name | Robin Wijngaard |
| authorships[14].countries | NL |
| authorships[14].affiliations[0].institution_ids | https://openalex.org/I145872427, https://openalex.org/I2802934949 |
| authorships[14].affiliations[0].raw_affiliation_string | Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. |
| authorships[14].institutions[0].id | https://openalex.org/I2802934949 |
| authorships[14].institutions[0].ror | https://ror.org/05wg1m734 |
| authorships[14].institutions[0].type | healthcare |
| authorships[14].institutions[0].lineage | https://openalex.org/I2802934949 |
| authorships[14].institutions[0].country_code | NL |
| authorships[14].institutions[0].display_name | Radboud University Medical Center |
| authorships[14].institutions[1].id | https://openalex.org/I145872427 |
| authorships[14].institutions[1].ror | https://ror.org/016xsfp80 |
| authorships[14].institutions[1].type | education |
| authorships[14].institutions[1].lineage | https://openalex.org/I145872427 |
| authorships[14].institutions[1].country_code | NL |
| authorships[14].institutions[1].display_name | Radboud University Nijmegen |
| authorships[14].author_position | middle |
| authorships[14].raw_author_name | Robin Wijngaard |
| authorships[14].is_corresponding | False |
| authorships[14].raw_affiliation_strings | Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. |
| authorships[15].author.id | https://openalex.org/A5060301618 |
| authorships[15].author.orcid | https://orcid.org/0000-0002-4506-3393 |
| authorships[15].author.display_name | I. Arroyo Carrera |
| authorships[15].countries | ES |
| authorships[15].affiliations[0].institution_ids | https://openalex.org/I4210111317 |
| authorships[15].affiliations[0].raw_affiliation_string | Pediatric Department, Hospital San Pedro de Alcántara, Cáceres, Spain. |
| authorships[15].institutions[0].id | https://openalex.org/I4210111317 |
| authorships[15].institutions[0].ror | https://ror.org/01yp8kc21 |
| authorships[15].institutions[0].type | healthcare |
| authorships[15].institutions[0].lineage | https://openalex.org/I4210111317 |
| authorships[15].institutions[0].country_code | ES |
| authorships[15].institutions[0].display_name | Hospital San Pedro de Alcántara |
| authorships[15].author_position | middle |
| authorships[15].raw_author_name | Ignacio Arroyo Carrera |
| authorships[15].is_corresponding | False |
| authorships[15].raw_affiliation_strings | Pediatric Department, Hospital San Pedro de Alcántara, Cáceres, Spain. |
| authorships[16].author.id | https://openalex.org/A5032357404 |
| authorships[16].author.orcid | |
| authorships[16].author.display_name | Giles Atton |
| authorships[16].countries | GB |
| authorships[16].affiliations[0].institution_ids | https://openalex.org/I2802965805 |
| authorships[16].affiliations[0].raw_affiliation_string | Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. |
| authorships[16].institutions[0].id | https://openalex.org/I2802965805 |
| authorships[16].institutions[0].ror | https://ror.org/0485axj58 |
| authorships[16].institutions[0].type | healthcare |
| authorships[16].institutions[0].lineage | https://openalex.org/I2802965805 |
| authorships[16].institutions[0].country_code | GB |
| authorships[16].institutions[0].display_name | University Hospital Southampton NHS Foundation Trust |
| authorships[16].author_position | middle |
| authorships[16].raw_author_name | Giles Atton |
| authorships[16].is_corresponding | False |
| authorships[16].raw_affiliation_strings | Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. |
| authorships[17].author.id | https://openalex.org/A5068402856 |
| authorships[17].author.orcid | https://orcid.org/0000-0001-5659-9188 |
| authorships[17].author.display_name | Dídac Casas‐Alba |
| authorships[17].countries | ES |
| authorships[17].affiliations[0].institution_ids | https://openalex.org/I1307323311 |
| authorships[17].affiliations[0].raw_affiliation_string | Clinical Genetics Department and Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain. |
| authorships[17].institutions[0].id | https://openalex.org/I1307323311 |
| authorships[17].institutions[0].ror | https://ror.org/001jx2139 |
| authorships[17].institutions[0].type | healthcare |
| authorships[17].institutions[0].lineage | https://openalex.org/I1307323311 |
| authorships[17].institutions[0].country_code | ES |
| authorships[17].institutions[0].display_name | Hospital Sant Joan de Déu Barcelona |
| authorships[17].author_position | middle |
| authorships[17].raw_author_name | Didac Casas-Alba |
| authorships[17].is_corresponding | False |
| authorships[17].raw_affiliation_strings | Clinical Genetics Department and Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain. |
| authorships[18].author.id | https://openalex.org/A5106721781 |
| authorships[18].author.orcid | https://orcid.org/0000-0001-9389-9155 |
| authorships[18].author.display_name | Deirdre E. Donnelly |
| authorships[18].countries | GB |
| authorships[18].affiliations[0].institution_ids | https://openalex.org/I138801177, https://openalex.org/I2802808109 |
| authorships[18].affiliations[0].raw_affiliation_string | Department of Medical Genetics, Belfast City Hospital, Belfast, UK. |
| authorships[18].institutions[0].id | https://openalex.org/I2802808109 |
| authorships[18].institutions[0].ror | https://ror.org/02405mj67 |
| authorships[18].institutions[0].type | healthcare |
| authorships[18].institutions[0].lineage | https://openalex.org/I1289110261, https://openalex.org/I2802808109 |
| authorships[18].institutions[0].country_code | GB |
| authorships[18].institutions[0].display_name | Belfast City Hospital |
| authorships[18].institutions[1].id | https://openalex.org/I138801177 |
| authorships[18].institutions[1].ror | https://ror.org/01yp9g959 |
| authorships[18].institutions[1].type | education |
| authorships[18].institutions[1].lineage | https://openalex.org/I138801177 |
| authorships[18].institutions[1].country_code | GB |
| authorships[18].institutions[1].display_name | University of Ulster |
| authorships[18].author_position | middle |
| authorships[18].raw_author_name | Deirdre Donnelly |
| authorships[18].is_corresponding | False |
| authorships[18].raw_affiliation_strings | Department of Medical Genetics, Belfast City Hospital, Belfast, UK. |
| authorships[19].author.id | https://openalex.org/A5073120820 |
| authorships[19].author.orcid | https://orcid.org/0000-0003-1532-4123 |
| authorships[19].author.display_name | Anna Duat Rodríguez |
| authorships[19].countries | ES |
| authorships[19].affiliations[0].institution_ids | https://openalex.org/I4210111810 |
| authorships[19].affiliations[0].raw_affiliation_string | Genetics Department, Hospital Niño Jesús, Madrid, Spain. |
| authorships[19].affiliations[1].institution_ids | https://openalex.org/I2801357902, https://openalex.org/I4210111366 |
| authorships[19].affiliations[1].raw_affiliation_string | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. |
| authorships[19].institutions[0].id | https://openalex.org/I4210111366 |
| authorships[19].institutions[0].ror | https://ror.org/01ygm5w19 |
| authorships[19].institutions[0].type | facility |
| authorships[19].institutions[0].lineage | https://openalex.org/I4210111366 |
| authorships[19].institutions[0].country_code | ES |
| authorships[19].institutions[0].display_name | Centre for Biomedical Network Research on Rare Diseases |
| authorships[19].institutions[1].id | https://openalex.org/I4210111810 |
| authorships[19].institutions[1].ror | https://ror.org/028brk668 |
| authorships[19].institutions[1].type | healthcare |
| authorships[19].institutions[1].lineage | https://openalex.org/I4210111810, https://openalex.org/I4210139293 |
| authorships[19].institutions[1].country_code | ES |
| authorships[19].institutions[1].display_name | Hospital Infantil Universitario Niño Jesús |
| authorships[19].institutions[2].id | https://openalex.org/I2801357902 |
| authorships[19].institutions[2].ror | https://ror.org/00ca2c886 |
| authorships[19].institutions[2].type | nonprofit |
| authorships[19].institutions[2].lineage | https://openalex.org/I2801357902, https://openalex.org/I4387152914 |
| authorships[19].institutions[2].country_code | ES |
| authorships[19].institutions[2].display_name | Instituto de Salud Carlos III |
| authorships[19].author_position | middle |
| authorships[19].raw_author_name | Anna Duat Rodríguez |
| authorships[19].is_corresponding | False |
| authorships[19].raw_affiliation_strings | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Genetics Department, Hospital Niño Jesús, Madrid, Spain. |
| authorships[20].author.id | https://openalex.org/A5077475453 |
| authorships[20].author.orcid | |
| authorships[20].author.display_name | Barbara Fernández Garoz |
| authorships[20].countries | ES |
| authorships[20].affiliations[0].institution_ids | https://openalex.org/I4210111810 |
| authorships[20].affiliations[0].raw_affiliation_string | Genetics Department, Hospital Niño Jesús, Madrid, Spain. |
| authorships[20].institutions[0].id | https://openalex.org/I4210111810 |
| authorships[20].institutions[0].ror | https://ror.org/028brk668 |
| authorships[20].institutions[0].type | healthcare |
| authorships[20].institutions[0].lineage | https://openalex.org/I4210111810, https://openalex.org/I4210139293 |
| authorships[20].institutions[0].country_code | ES |
| authorships[20].institutions[0].display_name | Hospital Infantil Universitario Niño Jesús |
| authorships[20].author_position | middle |
| authorships[20].raw_author_name | Bárbara Fernández Garoz |
| authorships[20].is_corresponding | False |
| authorships[20].raw_affiliation_strings | Genetics Department, Hospital Niño Jesús, Madrid, Spain. |
| authorships[21].author.id | https://openalex.org/A5038097738 |
| authorships[21].author.orcid | https://orcid.org/0000-0002-5779-0096 |
| authorships[21].author.display_name | Nicola Foulds |
| authorships[21].countries | GB |
| authorships[21].affiliations[0].institution_ids | https://openalex.org/I2802965805 |
| authorships[21].affiliations[0].raw_affiliation_string | Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. |
| authorships[21].institutions[0].id | https://openalex.org/I2802965805 |
| authorships[21].institutions[0].ror | https://ror.org/0485axj58 |
| authorships[21].institutions[0].type | healthcare |
| authorships[21].institutions[0].lineage | https://openalex.org/I2802965805 |
| authorships[21].institutions[0].country_code | GB |
| authorships[21].institutions[0].display_name | University Hospital Southampton NHS Foundation Trust |
| authorships[21].author_position | middle |
| authorships[21].raw_author_name | Nicola Foulds |
| authorships[21].is_corresponding | False |
| authorships[21].raw_affiliation_strings | Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. |
| authorships[22].author.id | https://openalex.org/A5054667685 |
| authorships[22].author.orcid | |
| authorships[22].author.display_name | D. Nunez |
| authorships[22].countries | ES |
| authorships[22].affiliations[0].institution_ids | https://openalex.org/I4210111317 |
| authorships[22].affiliations[0].raw_affiliation_string | Pediatric Department, Hospital San Pedro de Alcántara, Cáceres, Spain. |
| authorships[22].institutions[0].id | https://openalex.org/I4210111317 |
| authorships[22].institutions[0].ror | https://ror.org/01yp8kc21 |
| authorships[22].institutions[0].type | healthcare |
| authorships[22].institutions[0].lineage | https://openalex.org/I4210111317 |
| authorships[22].institutions[0].country_code | ES |
| authorships[22].institutions[0].display_name | Hospital San Pedro de Alcántara |
| authorships[22].author_position | middle |
| authorships[22].raw_author_name | Deyanira García-Navas Núñez |
| authorships[22].is_corresponding | False |
| authorships[22].raw_affiliation_strings | Pediatric Department, Hospital San Pedro de Alcántara, Cáceres, Spain. |
| authorships[23].author.id | https://openalex.org/A5055928822 |
| authorships[23].author.orcid | |
| authorships[23].author.display_name | Elena González Alguacil |
| authorships[23].countries | ES |
| authorships[23].affiliations[0].institution_ids | https://openalex.org/I4210111810 |
| authorships[23].affiliations[0].raw_affiliation_string | Genetics Department, Hospital Niño Jesús, Madrid, Spain. |
| authorships[23].affiliations[1].institution_ids | https://openalex.org/I2801357902, https://openalex.org/I4210111366 |
| authorships[23].affiliations[1].raw_affiliation_string | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. |
| authorships[23].institutions[0].id | https://openalex.org/I4210111366 |
| authorships[23].institutions[0].ror | https://ror.org/01ygm5w19 |
| authorships[23].institutions[0].type | facility |
| authorships[23].institutions[0].lineage | https://openalex.org/I4210111366 |
| authorships[23].institutions[0].country_code | ES |
| authorships[23].institutions[0].display_name | Centre for Biomedical Network Research on Rare Diseases |
| authorships[23].institutions[1].id | https://openalex.org/I4210111810 |
| authorships[23].institutions[1].ror | https://ror.org/028brk668 |
| authorships[23].institutions[1].type | healthcare |
| authorships[23].institutions[1].lineage | https://openalex.org/I4210111810, https://openalex.org/I4210139293 |
| authorships[23].institutions[1].country_code | ES |
| authorships[23].institutions[1].display_name | Hospital Infantil Universitario Niño Jesús |
| authorships[23].institutions[2].id | https://openalex.org/I2801357902 |
| authorships[23].institutions[2].ror | https://ror.org/00ca2c886 |
| authorships[23].institutions[2].type | nonprofit |
| authorships[23].institutions[2].lineage | https://openalex.org/I2801357902, https://openalex.org/I4387152914 |
| authorships[23].institutions[2].country_code | ES |
| authorships[23].institutions[2].display_name | Instituto de Salud Carlos III |
| authorships[23].author_position | middle |
| authorships[23].raw_author_name | Elena González Alguacil |
| authorships[23].is_corresponding | False |
| authorships[23].raw_affiliation_strings | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Genetics Department, Hospital Niño Jesús, Madrid, Spain. |
| authorships[24].author.id | https://openalex.org/A5004101373 |
| authorships[24].author.orcid | |
| authorships[24].author.display_name | Joanna Jarvis |
| authorships[24].countries | GB |
| authorships[24].affiliations[0].institution_ids | https://openalex.org/I4210099987 |
| authorships[24].affiliations[0].raw_affiliation_string | Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK. |
| authorships[24].institutions[0].id | https://openalex.org/I4210099987 |
| authorships[24].institutions[0].ror | https://ror.org/00xe5zs60 |
| authorships[24].institutions[0].type | healthcare |
| authorships[24].institutions[0].lineage | https://openalex.org/I4210099987, https://openalex.org/I4210155225 |
| authorships[24].institutions[0].country_code | GB |
| authorships[24].institutions[0].display_name | Birmingham Women's Hospital |
| authorships[24].author_position | middle |
| authorships[24].raw_author_name | Joanna Jarvis |
| authorships[24].is_corresponding | False |
| authorships[24].raw_affiliation_strings | Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, UK. |
| authorships[25].author.id | https://openalex.org/A5080848172 |
| authorships[25].author.orcid | https://orcid.org/0000-0001-8891-3952 |
| authorships[25].author.display_name | Sarina G. Kant |
| authorships[25].countries | NL |
| authorships[25].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[25].affiliations[0].raw_affiliation_string | Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands. |
| authorships[25].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[25].institutions[0].ror | https://ror.org/018906e22 |
| authorships[25].institutions[0].type | healthcare |
| authorships[25].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[25].institutions[0].country_code | NL |
| authorships[25].institutions[0].display_name | Erasmus MC |
| authorships[25].author_position | middle |
| authorships[25].raw_author_name | Sarina G Kant |
| authorships[25].is_corresponding | False |
| authorships[25].raw_affiliation_strings | Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands. |
| authorships[26].author.id | https://openalex.org/A5017705675 |
| authorships[26].author.orcid | https://orcid.org/0000-0002-7229-1199 |
| authorships[26].author.display_name | Irene Madrigal |
| authorships[26].countries | ES |
| authorships[26].affiliations[0].institution_ids | https://openalex.org/I2801357902, https://openalex.org/I4210111366 |
| authorships[26].affiliations[0].raw_affiliation_string | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. |
| authorships[26].affiliations[1].institution_ids | https://openalex.org/I4210160192 |
| authorships[26].affiliations[1].raw_affiliation_string | Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and Institut de Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. |
| authorships[26].institutions[0].id | https://openalex.org/I4210111366 |
| authorships[26].institutions[0].ror | https://ror.org/01ygm5w19 |
| authorships[26].institutions[0].type | facility |
| authorships[26].institutions[0].lineage | https://openalex.org/I4210111366 |
| authorships[26].institutions[0].country_code | ES |
| authorships[26].institutions[0].display_name | Centre for Biomedical Network Research on Rare Diseases |
| authorships[26].institutions[1].id | https://openalex.org/I4210160192 |
| authorships[26].institutions[1].ror | https://ror.org/054vayn55 |
| authorships[26].institutions[1].type | facility |
| authorships[26].institutions[1].lineage | https://openalex.org/I4210160192, https://openalex.org/I4387153040 |
| authorships[26].institutions[1].country_code | ES |
| authorships[26].institutions[1].display_name | Consorci Institut D'Investigacions Biomediques August Pi I Sunyer |
| authorships[26].institutions[2].id | https://openalex.org/I2801357902 |
| authorships[26].institutions[2].ror | https://ror.org/00ca2c886 |
| authorships[26].institutions[2].type | nonprofit |
| authorships[26].institutions[2].lineage | https://openalex.org/I2801357902, https://openalex.org/I4387152914 |
| authorships[26].institutions[2].country_code | ES |
| authorships[26].institutions[2].display_name | Instituto de Salud Carlos III |
| authorships[26].author_position | middle |
| authorships[26].raw_author_name | Irene Madrigal Bajo |
| authorships[26].is_corresponding | False |
| authorships[26].raw_affiliation_strings | Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and Institut de Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. |
| authorships[27].author.id | https://openalex.org/A5112933919 |
| authorships[27].author.orcid | |
| authorships[27].author.display_name | Antonio F. Martinez-Monseny |
| authorships[27].countries | ES |
| authorships[27].affiliations[0].institution_ids | https://openalex.org/I1307323311 |
| authorships[27].affiliations[0].raw_affiliation_string | Clinical Genetics Department and Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain. |
| authorships[27].institutions[0].id | https://openalex.org/I1307323311 |
| authorships[27].institutions[0].ror | https://ror.org/001jx2139 |
| authorships[27].institutions[0].type | healthcare |
| authorships[27].institutions[0].lineage | https://openalex.org/I1307323311 |
| authorships[27].institutions[0].country_code | ES |
| authorships[27].institutions[0].display_name | Hospital Sant Joan de Déu Barcelona |
| authorships[27].author_position | middle |
| authorships[27].raw_author_name | Antonio F Martinez-Monseny |
| authorships[27].is_corresponding | False |
| authorships[27].raw_affiliation_strings | Clinical Genetics Department and Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain. |
| authorships[28].author.id | https://openalex.org/A5053388608 |
| authorships[28].author.orcid | https://orcid.org/0000-0002-1772-0106 |
| authorships[28].author.display_name | Shane McKee |
| authorships[28].countries | GB |
| authorships[28].affiliations[0].institution_ids | https://openalex.org/I138801177, https://openalex.org/I2802808109 |
| authorships[28].affiliations[0].raw_affiliation_string | Department of Medical Genetics, Belfast City Hospital, Belfast, UK. |
| authorships[28].institutions[0].id | https://openalex.org/I2802808109 |
| authorships[28].institutions[0].ror | https://ror.org/02405mj67 |
| authorships[28].institutions[0].type | healthcare |
| authorships[28].institutions[0].lineage | https://openalex.org/I1289110261, https://openalex.org/I2802808109 |
| authorships[28].institutions[0].country_code | GB |
| authorships[28].institutions[0].display_name | Belfast City Hospital |
| authorships[28].institutions[1].id | https://openalex.org/I138801177 |
| authorships[28].institutions[1].ror | https://ror.org/01yp9g959 |
| authorships[28].institutions[1].type | education |
| authorships[28].institutions[1].lineage | https://openalex.org/I138801177 |
| authorships[28].institutions[1].country_code | GB |
| authorships[28].institutions[1].display_name | University of Ulster |
| authorships[28].author_position | middle |
| authorships[28].raw_author_name | Shane McKee |
| authorships[28].is_corresponding | False |
| authorships[28].raw_affiliation_strings | Department of Medical Genetics, Belfast City Hospital, Belfast, UK. |
| authorships[29].author.id | https://openalex.org/A5066218797 |
| authorships[29].author.orcid | https://orcid.org/0000-0002-3835-7203 |
| authorships[29].author.display_name | Nelmar Valentina Ortiz‐Cabrera |
| authorships[29].countries | ES |
| authorships[29].affiliations[0].institution_ids | https://openalex.org/I4210111810 |
| authorships[29].affiliations[0].raw_affiliation_string | Genetics Department, Hospital Niño Jesús, Madrid, Spain. |
| authorships[29].affiliations[1].institution_ids | https://openalex.org/I2801357902, https://openalex.org/I4210111366 |
| authorships[29].affiliations[1].raw_affiliation_string | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. |
| authorships[29].institutions[0].id | https://openalex.org/I4210111366 |
| authorships[29].institutions[0].ror | https://ror.org/01ygm5w19 |
| authorships[29].institutions[0].type | facility |
| authorships[29].institutions[0].lineage | https://openalex.org/I4210111366 |
| authorships[29].institutions[0].country_code | ES |
| authorships[29].institutions[0].display_name | Centre for Biomedical Network Research on Rare Diseases |
| authorships[29].institutions[1].id | https://openalex.org/I4210111810 |
| authorships[29].institutions[1].ror | https://ror.org/028brk668 |
| authorships[29].institutions[1].type | healthcare |
| authorships[29].institutions[1].lineage | https://openalex.org/I4210111810, https://openalex.org/I4210139293 |
| authorships[29].institutions[1].country_code | ES |
| authorships[29].institutions[1].display_name | Hospital Infantil Universitario Niño Jesús |
| authorships[29].institutions[2].id | https://openalex.org/I2801357902 |
| authorships[29].institutions[2].ror | https://ror.org/00ca2c886 |
| authorships[29].institutions[2].type | nonprofit |
| authorships[29].institutions[2].lineage | https://openalex.org/I2801357902, https://openalex.org/I4387152914 |
| authorships[29].institutions[2].country_code | ES |
| authorships[29].institutions[2].display_name | Instituto de Salud Carlos III |
| authorships[29].author_position | middle |
| authorships[29].raw_author_name | Nelmar Valentina Ortiz Cabrera |
| authorships[29].is_corresponding | False |
| authorships[29].raw_affiliation_strings | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Genetics Department, Hospital Niño Jesús, Madrid, Spain. |
| authorships[30].author.id | https://openalex.org/A5054500162 |
| authorships[30].author.orcid | |
| authorships[30].author.display_name | Leslie Bodi |
| authorships[30].countries | ES |
| authorships[30].affiliations[0].institution_ids | https://openalex.org/I2801357902, https://openalex.org/I4210111366 |
| authorships[30].affiliations[0].raw_affiliation_string | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. |
| authorships[30].affiliations[1].institution_ids | https://openalex.org/I4210160192 |
| authorships[30].affiliations[1].raw_affiliation_string | Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and Institut de Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. |
| authorships[30].institutions[0].id | https://openalex.org/I4210111366 |
| authorships[30].institutions[0].ror | https://ror.org/01ygm5w19 |
| authorships[30].institutions[0].type | facility |
| authorships[30].institutions[0].lineage | https://openalex.org/I4210111366 |
| authorships[30].institutions[0].country_code | ES |
| authorships[30].institutions[0].display_name | Centre for Biomedical Network Research on Rare Diseases |
| authorships[30].institutions[1].id | https://openalex.org/I4210160192 |
| authorships[30].institutions[1].ror | https://ror.org/054vayn55 |
| authorships[30].institutions[1].type | facility |
| authorships[30].institutions[1].lineage | https://openalex.org/I4210160192, https://openalex.org/I4387153040 |
| authorships[30].institutions[1].country_code | ES |
| authorships[30].institutions[1].display_name | Consorci Institut D'Investigacions Biomediques August Pi I Sunyer |
| authorships[30].institutions[2].id | https://openalex.org/I2801357902 |
| authorships[30].institutions[2].ror | https://ror.org/00ca2c886 |
| authorships[30].institutions[2].type | nonprofit |
| authorships[30].institutions[2].lineage | https://openalex.org/I2801357902, https://openalex.org/I4387152914 |
| authorships[30].institutions[2].country_code | ES |
| authorships[30].institutions[2].display_name | Instituto de Salud Carlos III |
| authorships[30].author_position | middle |
| authorships[30].raw_author_name | Laia Rodríguez-Revenga Bodi |
| authorships[30].is_corresponding | False |
| authorships[30].raw_affiliation_strings | Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and Institut de Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. |
| authorships[31].author.id | https://openalex.org/A5050053224 |
| authorships[31].author.orcid | |
| authorships[31].author.display_name | Andrea Sariego Jamardo |
| authorships[31].countries | ES |
| authorships[31].affiliations[0].institution_ids | https://openalex.org/I4210099858 |
| authorships[31].affiliations[0].raw_affiliation_string | Neuropediatric Department, Pediatric Service, Hospital Universitario Marqués de Valdecilla, Santander, Spain. |
| authorships[31].institutions[0].id | https://openalex.org/I4210099858 |
| authorships[31].institutions[0].ror | https://ror.org/01w4yqf75 |
| authorships[31].institutions[0].type | healthcare |
| authorships[31].institutions[0].lineage | https://openalex.org/I4210099858 |
| authorships[31].institutions[0].country_code | ES |
| authorships[31].institutions[0].display_name | Marqués de Valdecilla University Hospital |
| authorships[31].author_position | middle |
| authorships[31].raw_author_name | Andrea Sariego Jamardo |
| authorships[31].is_corresponding | False |
| authorships[31].raw_affiliation_strings | Neuropediatric Department, Pediatric Service, Hospital Universitario Marqués de Valdecilla, Santander, Spain. |
| authorships[32].author.id | https://openalex.org/A5018239255 |
| authorships[32].author.orcid | https://orcid.org/0000-0003-1676-864X |
| authorships[32].author.display_name | Kári Stéfansson |
| authorships[32].countries | IS |
| authorships[32].affiliations[0].institution_ids | https://openalex.org/I1327191685 |
| authorships[32].affiliations[0].raw_affiliation_string | deCODE genetics/Amgen Inc., Reykjavik, Iceland. |
| authorships[32].affiliations[1].institution_ids | https://openalex.org/I165368041 |
| authorships[32].affiliations[1].raw_affiliation_string | Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. |
| authorships[32].institutions[0].id | https://openalex.org/I165368041 |
| authorships[32].institutions[0].ror | https://ror.org/01db6h964 |
| authorships[32].institutions[0].type | education |
| authorships[32].institutions[0].lineage | https://openalex.org/I165368041 |
| authorships[32].institutions[0].country_code | IS |
| authorships[32].institutions[0].display_name | University of Iceland |
| authorships[32].institutions[1].id | https://openalex.org/I1327191685 |
| authorships[32].institutions[1].ror | https://ror.org/04dzdm737 |
| authorships[32].institutions[1].type | company |
| authorships[32].institutions[1].lineage | https://openalex.org/I1327191685 |
| authorships[32].institutions[1].country_code | IS |
| authorships[32].institutions[1].display_name | deCODE Genetics (Iceland) |
| authorships[32].author_position | middle |
| authorships[32].raw_author_name | Kari Stefansson |
| authorships[32].is_corresponding | False |
| authorships[32].raw_affiliation_strings | Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland., deCODE genetics/Amgen Inc., Reykjavik, Iceland. |
| authorships[33].author.id | https://openalex.org/A5065151039 |
| authorships[33].author.orcid | https://orcid.org/0000-0001-7123-6123 |
| authorships[33].author.display_name | Patrick Sulem |
| authorships[33].countries | IS |
| authorships[33].affiliations[0].institution_ids | https://openalex.org/I1327191685 |
| authorships[33].affiliations[0].raw_affiliation_string | deCODE genetics/Amgen Inc., Reykjavik, Iceland. |
| authorships[33].institutions[0].id | https://openalex.org/I1327191685 |
| authorships[33].institutions[0].ror | https://ror.org/04dzdm737 |
| authorships[33].institutions[0].type | company |
| authorships[33].institutions[0].lineage | https://openalex.org/I1327191685 |
| authorships[33].institutions[0].country_code | IS |
| authorships[33].institutions[0].display_name | deCODE Genetics (Iceland) |
| authorships[33].author_position | middle |
| authorships[33].raw_author_name | Patrick Sulem |
| authorships[33].is_corresponding | False |
| authorships[33].raw_affiliation_strings | deCODE genetics/Amgen Inc., Reykjavik, Iceland. |
| authorships[34].author.id | https://openalex.org/A5024253291 |
| authorships[34].author.orcid | https://orcid.org/0000-0001-9037-701X |
| authorships[34].author.display_name | Mohnish Suri |
| authorships[34].countries | GB |
| authorships[34].affiliations[0].institution_ids | https://openalex.org/I1334287468 |
| authorships[34].affiliations[0].raw_affiliation_string | Clinical Genetics, Nottingham University Hospital NHS Trust, Nottingham, UK. |
| authorships[34].institutions[0].id | https://openalex.org/I1334287468 |
| authorships[34].institutions[0].ror | https://ror.org/05y3qh794 |
| authorships[34].institutions[0].type | healthcare |
| authorships[34].institutions[0].lineage | https://openalex.org/I1334287468 |
| authorships[34].institutions[0].country_code | GB |
| authorships[34].institutions[0].display_name | Nottingham University Hospitals NHS Trust |
| authorships[34].author_position | middle |
| authorships[34].raw_author_name | Mohnish Suri |
| authorships[34].is_corresponding | False |
| authorships[34].raw_affiliation_strings | Clinical Genetics, Nottingham University Hospital NHS Trust, Nottingham, UK. |
| authorships[35].author.id | https://openalex.org/A5101494246 |
| authorships[35].author.orcid | https://orcid.org/0000-0002-2648-8337 |
| authorships[35].author.display_name | Clara D.M. van Karnebeek |
| authorships[35].countries | NL |
| authorships[35].affiliations[0].institution_ids | https://openalex.org/I4210151833 |
| authorships[35].affiliations[0].raw_affiliation_string | Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Gastro-Enterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, the Netherlands. |
| authorships[35].institutions[0].id | https://openalex.org/I4210151833 |
| authorships[35].institutions[0].ror | https://ror.org/05grdyy37 |
| authorships[35].institutions[0].type | healthcare |
| authorships[35].institutions[0].lineage | https://openalex.org/I4210151833 |
| authorships[35].institutions[0].country_code | NL |
| authorships[35].institutions[0].display_name | Amsterdam University Medical Centers |
| authorships[35].author_position | middle |
| authorships[35].raw_author_name | Clara Van Karnebeek |
| authorships[35].is_corresponding | False |
| authorships[35].raw_affiliation_strings | Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Gastro-Enterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, the Netherlands. |
| authorships[36].author.id | https://openalex.org/A5016108750 |
| authorships[36].author.orcid | https://orcid.org/0009-0002-6095-2030 |
| authorships[36].author.display_name | Pradeep Vasudevan |
| authorships[36].countries | GB |
| authorships[36].affiliations[0].institution_ids | https://openalex.org/I2802445252 |
| authorships[36].affiliations[0].raw_affiliation_string | Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK. |
| authorships[36].institutions[0].id | https://openalex.org/I2802445252 |
| authorships[36].institutions[0].ror | https://ror.org/02fha3693 |
| authorships[36].institutions[0].type | healthcare |
| authorships[36].institutions[0].lineage | https://openalex.org/I2802445252 |
| authorships[36].institutions[0].country_code | GB |
| authorships[36].institutions[0].display_name | University Hospitals of Leicester NHS Trust |
| authorships[36].author_position | middle |
| authorships[36].raw_author_name | Pradeep Vasudevan |
| authorships[36].is_corresponding | False |
| authorships[36].raw_affiliation_strings | Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK. |
| authorships[37].author.id | https://openalex.org/A5080041158 |
| authorships[37].author.orcid | |
| authorships[37].author.display_name | Ana Isabel Vega Pajares |
| authorships[37].countries | ES |
| authorships[37].affiliations[0].institution_ids | https://openalex.org/I4210113075 |
| authorships[37].affiliations[0].raw_affiliation_string | Genetics Department, Hospital Universitario Marqués de Valdecilla, Instituto de Investigación Valdecilla (IDIVAL), Santander, Spain. |
| authorships[37].institutions[0].id | https://openalex.org/I4210113075 |
| authorships[37].institutions[0].ror | https://ror.org/025gxrt12 |
| authorships[37].institutions[0].type | other |
| authorships[37].institutions[0].lineage | https://openalex.org/I4210113075 |
| authorships[37].institutions[0].country_code | ES |
| authorships[37].institutions[0].display_name | Instituto de Investigación Marqués de Valdecilla |
| authorships[37].author_position | middle |
| authorships[37].raw_author_name | Ana Isabel Vega Pajares |
| authorships[37].is_corresponding | False |
| authorships[37].raw_affiliation_strings | Genetics Department, Hospital Universitario Marqués de Valdecilla, Instituto de Investigación Valdecilla (IDIVAL), Santander, Spain. |
| authorships[38].author.id | https://openalex.org/A5077296737 |
| authorships[38].author.orcid | https://orcid.org/0000-0003-1085-8986 |
| authorships[38].author.display_name | Ãngel Carracedo |
| authorships[38].countries | ES |
| authorships[38].affiliations[0].institution_ids | https://openalex.org/I2801357902, https://openalex.org/I4210111366 |
| authorships[38].affiliations[0].raw_affiliation_string | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. |
| authorships[38].affiliations[1].institution_ids | https://openalex.org/I200284239, https://openalex.org/I4210111807, https://openalex.org/I4210123801 |
| authorships[38].affiliations[1].raw_affiliation_string | Genomic Medicine Group, Center for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain. |
| authorships[38].affiliations[2].raw_affiliation_string | Galician Foundation of Genomic Medicine, IDIS, Galician Service of Health, Santiago de Compostela, Spain. |
| authorships[38].institutions[0].id | https://openalex.org/I4210111807 |
| authorships[38].institutions[0].ror | https://ror.org/0280bnq76 |
| authorships[38].institutions[0].type | facility |
| authorships[38].institutions[0].lineage | https://openalex.org/I4210111807 |
| authorships[38].institutions[0].country_code | ES |
| authorships[38].institutions[0].display_name | Center for Research in Molecular Medicine and Chronic Diseases |
| authorships[38].institutions[1].id | https://openalex.org/I4210111366 |
| authorships[38].institutions[1].ror | https://ror.org/01ygm5w19 |
| authorships[38].institutions[1].type | facility |
| authorships[38].institutions[1].lineage | https://openalex.org/I4210111366 |
| authorships[38].institutions[1].country_code | ES |
| authorships[38].institutions[1].display_name | Centre for Biomedical Network Research on Rare Diseases |
| authorships[38].institutions[2].id | https://openalex.org/I4210123801 |
| authorships[38].institutions[2].ror | https://ror.org/025h0r574 |
| authorships[38].institutions[2].type | facility |
| authorships[38].institutions[2].lineage | https://openalex.org/I4210123801 |
| authorships[38].institutions[2].country_code | ES |
| authorships[38].institutions[2].display_name | Fundación Pública Galega de Medicina Xenómica |
| authorships[38].institutions[3].id | https://openalex.org/I2801357902 |
| authorships[38].institutions[3].ror | https://ror.org/00ca2c886 |
| authorships[38].institutions[3].type | nonprofit |
| authorships[38].institutions[3].lineage | https://openalex.org/I2801357902, https://openalex.org/I4387152914 |
| authorships[38].institutions[3].country_code | ES |
| authorships[38].institutions[3].display_name | Instituto de Salud Carlos III |
| authorships[38].institutions[4].id | https://openalex.org/I200284239 |
| authorships[38].institutions[4].ror | https://ror.org/030eybx10 |
| authorships[38].institutions[4].type | education |
| authorships[38].institutions[4].lineage | https://openalex.org/I200284239 |
| authorships[38].institutions[4].country_code | ES |
| authorships[38].institutions[4].display_name | Universidade de Santiago de Compostela |
| authorships[38].author_position | middle |
| authorships[38].raw_author_name | Ángel Carracedo |
| authorships[38].is_corresponding | False |
| authorships[38].raw_affiliation_strings | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Galician Foundation of Genomic Medicine, IDIS, Galician Service of Health, Santiago de Compostela, Spain., Genomic Medicine Group, Center for Research in Molecular Medicine and Chronic Diseases, University of Santiago de Compostela, Santiago de Compostela, Spain. |
| authorships[39].author.id | https://openalex.org/A5057253916 |
| authorships[39].author.orcid | https://orcid.org/0000-0002-5346-8497 |
| authorships[39].author.display_name | Marc Engelen |
| authorships[39].countries | NL |
| authorships[39].affiliations[0].institution_ids | https://openalex.org/I4210151833 |
| authorships[39].affiliations[0].raw_affiliation_string | Department of Pediatric Neurology, Amsterdam University Medical Centers, Amsterdam, the Netherlands. |
| authorships[39].institutions[0].id | https://openalex.org/I4210151833 |
| authorships[39].institutions[0].ror | https://ror.org/05grdyy37 |
| authorships[39].institutions[0].type | healthcare |
| authorships[39].institutions[0].lineage | https://openalex.org/I4210151833 |
| authorships[39].institutions[0].country_code | NL |
| authorships[39].institutions[0].display_name | Amsterdam University Medical Centers |
| authorships[39].author_position | middle |
| authorships[39].raw_author_name | Marc Engelen |
| authorships[39].is_corresponding | False |
| authorships[39].raw_affiliation_strings | Department of Pediatric Neurology, Amsterdam University Medical Centers, Amsterdam, the Netherlands. |
| authorships[40].author.id | https://openalex.org/A5031807627 |
| authorships[40].author.orcid | https://orcid.org/0000-0002-6324-4825 |
| authorships[40].author.display_name | Pablo Lapunzina |
| authorships[40].countries | ES |
| authorships[40].affiliations[0].institution_ids | https://openalex.org/I2801357902, https://openalex.org/I4210111366 |
| authorships[40].affiliations[0].raw_affiliation_string | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. |
| authorships[40].affiliations[1].institution_ids | https://openalex.org/I4210103477 |
| authorships[40].affiliations[1].raw_affiliation_string | Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, Madrid, Spain. |
| authorships[40].institutions[0].id | https://openalex.org/I4210111366 |
| authorships[40].institutions[0].ror | https://ror.org/01ygm5w19 |
| authorships[40].institutions[0].type | facility |
| authorships[40].institutions[0].lineage | https://openalex.org/I4210111366 |
| authorships[40].institutions[0].country_code | ES |
| authorships[40].institutions[0].display_name | Centre for Biomedical Network Research on Rare Diseases |
| authorships[40].institutions[1].id | https://openalex.org/I4210103477 |
| authorships[40].institutions[1].ror | https://ror.org/017bynh47 |
| authorships[40].institutions[1].type | facility |
| authorships[40].institutions[1].lineage | https://openalex.org/I4210103477 |
| authorships[40].institutions[1].country_code | ES |
| authorships[40].institutions[1].display_name | Hospital La Paz Institute for Health Research |
| authorships[40].institutions[2].id | https://openalex.org/I2801357902 |
| authorships[40].institutions[2].ror | https://ror.org/00ca2c886 |
| authorships[40].institutions[2].type | nonprofit |
| authorships[40].institutions[2].lineage | https://openalex.org/I2801357902, https://openalex.org/I4387152914 |
| authorships[40].institutions[2].country_code | ES |
| authorships[40].institutions[2].display_name | Instituto de Salud Carlos III |
| authorships[40].author_position | middle |
| authorships[40].raw_author_name | Pablo Lapunzina |
| authorships[40].is_corresponding | False |
| authorships[40].raw_affiliation_strings | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, Madrid, Spain. |
| authorships[41].author.id | https://openalex.org/A5109777323 |
| authorships[41].author.orcid | |
| authorships[41].author.display_name | Natasha P. Morgan |
| authorships[41].countries | GB |
| authorships[41].affiliations[0].institution_ids | https://openalex.org/I241749 |
| authorships[41].affiliations[0].raw_affiliation_string | NIHR BioResource, Cambridge University Hospitals, Cambridge, UK. |
| authorships[41].affiliations[1].institution_ids | https://openalex.org/I241749 |
| authorships[41].affiliations[1].raw_affiliation_string | Department of Haematology, School of Clinical Medicine, University of Cambridge, Cambridge, UK. |
| authorships[41].institutions[0].id | https://openalex.org/I241749 |
| authorships[41].institutions[0].ror | https://ror.org/013meh722 |
| authorships[41].institutions[0].type | education |
| authorships[41].institutions[0].lineage | https://openalex.org/I241749 |
| authorships[41].institutions[0].country_code | GB |
| authorships[41].institutions[0].display_name | University of Cambridge |
| authorships[41].author_position | middle |
| authorships[41].raw_author_name | Natasha P Morgan |
| authorships[41].is_corresponding | False |
| authorships[41].raw_affiliation_strings | Department of Haematology, School of Clinical Medicine, University of Cambridge, Cambridge, UK., NIHR BioResource, Cambridge University Hospitals, Cambridge, UK. |
| authorships[42].author.id | https://openalex.org/A5058663471 |
| authorships[42].author.orcid | https://orcid.org/0000-0003-0702-7815 |
| authorships[42].author.display_name | Beatriz Morte |
| authorships[42].countries | ES |
| authorships[42].affiliations[0].institution_ids | https://openalex.org/I2801357902, https://openalex.org/I4210111366 |
| authorships[42].affiliations[0].raw_affiliation_string | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. |
| authorships[42].institutions[0].id | https://openalex.org/I4210111366 |
| authorships[42].institutions[0].ror | https://ror.org/01ygm5w19 |
| authorships[42].institutions[0].type | facility |
| authorships[42].institutions[0].lineage | https://openalex.org/I4210111366 |
| authorships[42].institutions[0].country_code | ES |
| authorships[42].institutions[0].display_name | Centre for Biomedical Network Research on Rare Diseases |
| authorships[42].institutions[1].id | https://openalex.org/I2801357902 |
| authorships[42].institutions[1].ror | https://ror.org/00ca2c886 |
| authorships[42].institutions[1].type | nonprofit |
| authorships[42].institutions[1].lineage | https://openalex.org/I2801357902, https://openalex.org/I4387152914 |
| authorships[42].institutions[1].country_code | ES |
| authorships[42].institutions[1].display_name | Instituto de Salud Carlos III |
| authorships[42].author_position | middle |
| authorships[42].raw_author_name | Beatriz Morte |
| authorships[42].is_corresponding | False |
| authorships[42].raw_affiliation_strings | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. |
| authorships[43].author.id | https://openalex.org/A5038190593 |
| authorships[43].author.orcid | https://orcid.org/0000-0003-4059-0247 |
| authorships[43].author.display_name | Patrick Rump |
| authorships[43].countries | NL |
| authorships[43].affiliations[0].institution_ids | https://openalex.org/I1334415907, https://openalex.org/I169381384 |
| authorships[43].affiliations[0].raw_affiliation_string | Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands. |
| authorships[43].institutions[0].id | https://openalex.org/I1334415907 |
| authorships[43].institutions[0].ror | https://ror.org/03cv38k47 |
| authorships[43].institutions[0].type | healthcare |
| authorships[43].institutions[0].lineage | https://openalex.org/I1334415907 |
| authorships[43].institutions[0].country_code | NL |
| authorships[43].institutions[0].display_name | University Medical Center Groningen |
| authorships[43].institutions[1].id | https://openalex.org/I169381384 |
| authorships[43].institutions[1].ror | https://ror.org/012p63287 |
| authorships[43].institutions[1].type | education |
| authorships[43].institutions[1].lineage | https://openalex.org/I169381384 |
| authorships[43].institutions[1].country_code | NL |
| authorships[43].institutions[1].display_name | University of Groningen |
| authorships[43].author_position | middle |
| authorships[43].raw_author_name | Patrick Rump |
| authorships[43].is_corresponding | False |
| authorships[43].raw_affiliation_strings | Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands. |
| authorships[44].author.id | https://openalex.org/A5054422460 |
| authorships[44].author.orcid | https://orcid.org/0000-0002-6823-3252 |
| authorships[44].author.display_name | Kathleen Stirrups |
| authorships[44].countries | GB |
| authorships[44].affiliations[0].institution_ids | https://openalex.org/I241749 |
| authorships[44].affiliations[0].raw_affiliation_string | Department of Haematology, School of Clinical Medicine, University of Cambridge, Cambridge, UK. |
| authorships[44].affiliations[1].institution_ids | https://openalex.org/I241749 |
| authorships[44].affiliations[1].raw_affiliation_string | NIHR BioResource, Cambridge University Hospitals, Cambridge, UK. |
| authorships[44].institutions[0].id | https://openalex.org/I241749 |
| authorships[44].institutions[0].ror | https://ror.org/013meh722 |
| authorships[44].institutions[0].type | education |
| authorships[44].institutions[0].lineage | https://openalex.org/I241749 |
| authorships[44].institutions[0].country_code | GB |
| authorships[44].institutions[0].display_name | University of Cambridge |
| authorships[44].author_position | middle |
| authorships[44].raw_author_name | Kathy Stirrups |
| authorships[44].is_corresponding | False |
| authorships[44].raw_affiliation_strings | Department of Haematology, School of Clinical Medicine, University of Cambridge, Cambridge, UK., NIHR BioResource, Cambridge University Hospitals, Cambridge, UK. |
| authorships[45].author.id | https://openalex.org/A5076225535 |
| authorships[45].author.orcid | https://orcid.org/0000-0002-7116-6310 |
| authorships[45].author.display_name | Eduardo F. Tizzano |
| authorships[45].countries | ES |
| authorships[45].affiliations[0].institution_ids | https://openalex.org/I4210102407 |
| authorships[45].affiliations[0].raw_affiliation_string | Medicine Genetics Group Vall d'Hebron Research Institute, Barcelona, Spain. |
| authorships[45].affiliations[1].institution_ids | https://openalex.org/I4210127641 |
| authorships[45].affiliations[1].raw_affiliation_string | Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain. |
| authorships[45].institutions[0].id | https://openalex.org/I4210127641 |
| authorships[45].institutions[0].ror | https://ror.org/03ba28x55 |
| authorships[45].institutions[0].type | healthcare |
| authorships[45].institutions[0].lineage | https://openalex.org/I4210127641 |
| authorships[45].institutions[0].country_code | ES |
| authorships[45].institutions[0].display_name | Vall d'Hebron Hospital Universitari |
| authorships[45].institutions[1].id | https://openalex.org/I4210102407 |
| authorships[45].institutions[1].ror | https://ror.org/01d5vx451 |
| authorships[45].institutions[1].type | facility |
| authorships[45].institutions[1].lineage | https://openalex.org/I4210102407, https://openalex.org/I4387153040 |
| authorships[45].institutions[1].country_code | ES |
| authorships[45].institutions[1].display_name | Vall d'Hebron Institut de Recerca |
| authorships[45].author_position | middle |
| authorships[45].raw_author_name | Eduardo F Tizzano |
| authorships[45].is_corresponding | False |
| authorships[45].raw_affiliation_strings | Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Barcelona, Spain., Medicine Genetics Group Vall d'Hebron Research Institute, Barcelona, Spain. |
| authorships[46].author.id | https://openalex.org/A5045014264 |
| authorships[46].author.orcid | https://orcid.org/0000-0003-1231-1562 |
| authorships[46].author.display_name | Tahsin Stefan Barakat |
| authorships[46].countries | NL |
| authorships[46].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[46].affiliations[0].raw_affiliation_string | Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands. |
| authorships[46].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[46].institutions[0].ror | https://ror.org/018906e22 |
| authorships[46].institutions[0].type | healthcare |
| authorships[46].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[46].institutions[0].country_code | NL |
| authorships[46].institutions[0].display_name | Erasmus MC |
| authorships[46].author_position | middle |
| authorships[46].raw_author_name | Tahsin Stefan Barakat |
| authorships[46].is_corresponding | False |
| authorships[46].raw_affiliation_strings | Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands. |
| authorships[47].author.id | https://openalex.org/A5008261130 |
| authorships[47].author.orcid | https://orcid.org/0000-0002-5707-0929 |
| authorships[47].author.display_name | Michael O’Donoghue |
| authorships[47].countries | GB |
| authorships[47].affiliations[0].institution_ids | https://openalex.org/I1334287468 |
| authorships[47].affiliations[0].raw_affiliation_string | Neurology, Nottingham University Hospital NHS Trust, Nottingham, UK. |
| authorships[47].institutions[0].id | https://openalex.org/I1334287468 |
| authorships[47].institutions[0].ror | https://ror.org/05y3qh794 |
| authorships[47].institutions[0].type | healthcare |
| authorships[47].institutions[0].lineage | https://openalex.org/I1334287468 |
| authorships[47].institutions[0].country_code | GB |
| authorships[47].institutions[0].display_name | Nottingham University Hospitals NHS Trust |
| authorships[47].author_position | middle |
| authorships[47].raw_author_name | Michael O'Donoghue |
| authorships[47].is_corresponding | False |
| authorships[47].raw_affiliation_strings | Neurology, Nottingham University Hospital NHS Trust, Nottingham, UK. |
| authorships[48].author.id | https://openalex.org/A5090059674 |
| authorships[48].author.orcid | https://orcid.org/0000-0002-1988-3005 |
| authorships[48].author.display_name | Luis A. Pérez‐Jurado |
| authorships[48].countries | ES |
| authorships[48].affiliations[0].institution_ids | https://openalex.org/I2801357902, https://openalex.org/I4210111366 |
| authorships[48].affiliations[0].raw_affiliation_string | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. |
| authorships[48].affiliations[1].institution_ids | https://openalex.org/I170486558 |
| authorships[48].affiliations[1].raw_affiliation_string | Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Barcelona, Spain. |
| authorships[48].affiliations[2].institution_ids | https://openalex.org/I4210130874 |
| authorships[48].affiliations[2].raw_affiliation_string | Genetics Service, Hospital del Mar and Hospital del Mar Research Institute, Barcelona, Spain. |
| authorships[48].institutions[0].id | https://openalex.org/I4210111366 |
| authorships[48].institutions[0].ror | https://ror.org/01ygm5w19 |
| authorships[48].institutions[0].type | facility |
| authorships[48].institutions[0].lineage | https://openalex.org/I4210111366 |
| authorships[48].institutions[0].country_code | ES |
| authorships[48].institutions[0].display_name | Centre for Biomedical Network Research on Rare Diseases |
| authorships[48].institutions[1].id | https://openalex.org/I4210130874 |
| authorships[48].institutions[1].ror | https://ror.org/03a8gac78 |
| authorships[48].institutions[1].type | healthcare |
| authorships[48].institutions[1].lineage | https://openalex.org/I4210130874 |
| authorships[48].institutions[1].country_code | ES |
| authorships[48].institutions[1].display_name | Hospital Del Mar |
| authorships[48].institutions[2].id | https://openalex.org/I2801357902 |
| authorships[48].institutions[2].ror | https://ror.org/00ca2c886 |
| authorships[48].institutions[2].type | nonprofit |
| authorships[48].institutions[2].lineage | https://openalex.org/I2801357902, https://openalex.org/I4387152914 |
| authorships[48].institutions[2].country_code | ES |
| authorships[48].institutions[2].display_name | Instituto de Salud Carlos III |
| authorships[48].institutions[3].id | https://openalex.org/I170486558 |
| authorships[48].institutions[3].ror | https://ror.org/04n0g0b29 |
| authorships[48].institutions[3].type | education |
| authorships[48].institutions[3].lineage | https://openalex.org/I170486558 |
| authorships[48].institutions[3].country_code | ES |
| authorships[48].institutions[3].display_name | Universitat Pompeu Fabra |
| authorships[48].author_position | middle |
| authorships[48].raw_author_name | Luis Alberto Pérez-Jurado |
| authorships[48].is_corresponding | False |
| authorships[48].raw_affiliation_strings | CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Barcelona, Spain., Genetics Service, Hospital del Mar and Hospital del Mar Research Institute, Barcelona, Spain. |
| authorships[49].author.id | https://openalex.org/A5064832605 |
| authorships[49].author.orcid | https://orcid.org/0000-0002-4381-2442 |
| authorships[49].author.display_name | Kathleen Freson |
| authorships[49].countries | BE |
| authorships[49].affiliations[0].institution_ids | https://openalex.org/I99464096 |
| authorships[49].affiliations[0].raw_affiliation_string | Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium. |
| authorships[49].institutions[0].id | https://openalex.org/I99464096 |
| authorships[49].institutions[0].ror | https://ror.org/05f950310 |
| authorships[49].institutions[0].type | education |
| authorships[49].institutions[0].lineage | https://openalex.org/I99464096 |
| authorships[49].institutions[0].country_code | BE |
| authorships[49].institutions[0].display_name | KU Leuven |
| authorships[49].author_position | middle |
| authorships[49].raw_author_name | Kathleen Freson |
| authorships[49].is_corresponding | False |
| authorships[49].raw_affiliation_strings | Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium. |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://www.nature.com/articles/s41588-025-02159-5.pdf |
| open_access.oa_status | hybrid |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy |
| has_fulltext | False |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T11772 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9994999766349792 |
| primary_topic.domain.id | https://openalex.org/domains/1 |
| primary_topic.domain.display_name | Life Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/1311 |
| primary_topic.subfield.display_name | Genetics |
| primary_topic.display_name | Genetics and Neurodevelopmental Disorders |
| related_works | https://openalex.org/W4391375266, https://openalex.org/W2395385109, https://openalex.org/W2773633178, https://openalex.org/W2080101436, https://openalex.org/W2802335767, https://openalex.org/W2356350882, https://openalex.org/W4388090985, https://openalex.org/W2034625591, https://openalex.org/W2146849562, https://openalex.org/W2028961943 |
| cited_by_count | 15 |
| counts_by_year[0].year | 2025 |
| counts_by_year[0].cited_by_count | 15 |
| locations_count | 5 |
| best_oa_location.id | doi:10.1038/s41588-025-02159-5 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S137905309 |
| best_oa_location.source.issn | 1061-4036, 1546-1718 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | False |
| best_oa_location.source.issn_l | 1061-4036 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | Nature Genetics |
| best_oa_location.source.host_organization | https://openalex.org/P4310319908 |
| best_oa_location.source.host_organization_name | Nature Portfolio |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310319908 |
| best_oa_location.license | cc-by-nc-nd |
| best_oa_location.pdf_url | https://www.nature.com/articles/s41588-025-02159-5.pdf |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by-nc-nd |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | Nature Genetics |
| best_oa_location.landing_page_url | https://doi.org/10.1038/s41588-025-02159-5 |
| primary_location.id | doi:10.1038/s41588-025-02159-5 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S137905309 |
| primary_location.source.issn | 1061-4036, 1546-1718 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | 1061-4036 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | Nature Genetics |
| primary_location.source.host_organization | https://openalex.org/P4310319908 |
| primary_location.source.host_organization_name | Nature Portfolio |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310319908 |
| primary_location.license | cc-by-nc-nd |
| primary_location.pdf_url | https://www.nature.com/articles/s41588-025-02159-5.pdf |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | https://openalex.org/licenses/cc-by-nc-nd |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | Nature Genetics |
| primary_location.landing_page_url | https://doi.org/10.1038/s41588-025-02159-5 |
| publication_date | 2025-04-10 |
| publication_year | 2025 |
| referenced_works | https://openalex.org/W2984251519, https://openalex.org/W2098052980, https://openalex.org/W2090105807, https://openalex.org/W1929075796, https://openalex.org/W2780802327, https://openalex.org/W2552561945, https://openalex.org/W3164721733, https://openalex.org/W3031265420, https://openalex.org/W4399209063, https://openalex.org/W4400531604, https://openalex.org/W4394539210, https://openalex.org/W4327549422, https://openalex.org/W2724944290, https://openalex.org/W2160995259, https://openalex.org/W3180739613, https://openalex.org/W1995837988, https://openalex.org/W4220810507, https://openalex.org/W4389367121, https://openalex.org/W4388557321, https://openalex.org/W4401793376, https://openalex.org/W2580355118, https://openalex.org/W3038072559, https://openalex.org/W4205645188, https://openalex.org/W4399550116, https://openalex.org/W3132276244, https://openalex.org/W2990942569, https://openalex.org/W2013307338, https://openalex.org/W2071032973, https://openalex.org/W2080236124, https://openalex.org/W2015856496, https://openalex.org/W2114706544, https://openalex.org/W2786091219, https://openalex.org/W2968629420, https://openalex.org/W2520188071, https://openalex.org/W2568035278, https://openalex.org/W2017302704, https://openalex.org/W2179438025, https://openalex.org/W2592811885, https://openalex.org/W2197124664, https://openalex.org/W4362506372, https://openalex.org/W2080772881, https://openalex.org/W2992033677, https://openalex.org/W4392090916, https://openalex.org/W2471383896, https://openalex.org/W4207004345 |
| referenced_works_count | 45 |
| abstract_inverted_index | |
| cited_by_percentile_year.max | 100 |
| cited_by_percentile_year.min | 99 |
| countries_distinct_count | 6 |
| institutions_distinct_count | 52 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.4099999964237213 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.99895979 |
| citation_normalized_percentile.is_in_top_1_percent | True |
| citation_normalized_percentile.is_in_top_10_percent | True |