Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder Article Swipe
Silvestre Cuinat
,
Mathilde Nizon
,
Bertrand Isidor
,
Alexander P.A. Stegmann
,
Richard H. van Jaarsveld
,
Koen L.I. van Gassen
,
Jasper J. van der Smagt
,
Catharina M.L. Volker‐Touw
,
Sjoerd J.B. Holwerda
,
Paulien A. Terhal
,
Sarah Schuhmann
,
Georgia Vasileiou
,
Mohamed Khalifa
,
Alaa Nugud
,
Hemad Yasaei
,
Lilian Bomme Ousager
,
Charlotte Brasch‐Andersen
,
Wallid Deb
,
Thomas Besnard
,
Marleen Simon
,
Karin Huijsdens–van Amsterdam
,
Nienke E. Verbeek
,
Dena R. Matalon
,
Natalie Dykzeul
,
Shana White
,
Elizabeth Spiteri
,
Koenraad Devriendt
,
Anneleen Boogaerts
,
Marjolein H. Willemsen
,
Han G. Brunner
,
Margje Sinnema
,
Bert B.A. de Vries
,
Erica H. Gerkes
,
Rolph Pfundt
,
Kosuke Izumi
,
Ian D. Krantz
,
Zhou L. Xu
,
Jill R. Murrell
,
Irene Valenzuela
,
Ivon Cuscó
,
Eulàlia Rovira‐Moreno
,
Yaping Yang
,
Varoona Bizaoui
,
Olivier Patat
,
Laurence Faivre
,
Frédéric Tran Mau‐Them
,
Antonio Vitobello
,
Anne‐Sophie Denommé‐Pichon
,
Christophe Philippe
,
Stéphane Bézieau
,
Benjamin Cogné
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1016/j.gim.2022.04.011
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1016/j.gim.2022.04.011
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1016/j.gim.2022.04.011
- http://www.gimjournal.org/article/S1098360022007407/pdf
- OA Status
- bronze
- Cited By
- 41
- References
- 19
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4280516847
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4280516847Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1016/j.gim.2022.04.011Digital Object Identifier
- Title
-
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorderWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2022Year of publication
- Publication date
-
2022-05-14Full publication date if available
- Authors
-
Silvestre Cuinat, Mathilde Nizon, Bertrand Isidor, Alexander P.A. Stegmann, Richard H. van Jaarsveld, Koen L.I. van Gassen, Jasper J. van der Smagt, Catharina M.L. Volker‐Touw, Sjoerd J.B. Holwerda, Paulien A. Terhal, Sarah Schuhmann, Georgia Vasileiou, Mohamed Khalifa, Alaa Nugud, Hemad Yasaei, Lilian Bomme Ousager, Charlotte Brasch‐Andersen, Wallid Deb, Thomas Besnard, Marleen Simon, Karin Huijsdens–van Amsterdam, Nienke E. Verbeek, Dena R. Matalon, Natalie Dykzeul, Shana White, Elizabeth Spiteri, Koenraad Devriendt, Anneleen Boogaerts, Marjolein H. Willemsen, Han G. Brunner, Margje Sinnema, Bert B.A. de Vries, Erica H. Gerkes, Rolph Pfundt, Kosuke Izumi, Ian D. Krantz, Zhou L. Xu, Jill R. Murrell, Irene Valenzuela, Ivon Cuscó, Eulàlia Rovira‐Moreno, Yaping Yang, Varoona Bizaoui, Olivier Patat, Laurence Faivre, Frédéric Tran Mau‐Them, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Christophe Philippe, Stéphane Bézieau, Benjamin CognéList of authors in order
- Landing page
-
https://doi.org/10.1016/j.gim.2022.04.011Publisher landing page
- PDF URL
-
https://www.gimjournal.org/article/S1098360022007407/pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://www.gimjournal.org/article/S1098360022007407/pdfDirect OA link when available
- Concepts
-
Loss function, Neurodevelopmental disorder, Medicine, Function (biology), Genetics, Biology, Phenotype, Psychiatry, Autism, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
41Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 20, 2024: 7, 2023: 13, 2022: 1Per-year citation counts (last 5 years)
- References (count)
-
19Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4280516847 |
|---|---|
| doi | https://doi.org/10.1016/j.gim.2022.04.011 |
| ids.doi | https://doi.org/10.1016/j.gim.2022.04.011 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/35567594 |
| ids.openalex | https://openalex.org/W4280516847 |
| fwci | 5.04583548 |
| mesh[0].qualifier_ui | |
| mesh[0].descriptor_ui | D002648 |
| mesh[0].is_major_topic | False |
| mesh[0].qualifier_name | |
| mesh[0].descriptor_name | Child |
| mesh[1].qualifier_ui | Q000235 |
| mesh[1].descriptor_ui | D002658 |
| mesh[1].is_major_topic | False |
| mesh[1].qualifier_name | genetics |
| mesh[1].descriptor_name | Developmental Disabilities |
| mesh[2].qualifier_ui | |
| mesh[2].descriptor_ui | D006801 |
| mesh[2].is_major_topic | False |
| mesh[2].qualifier_name | |
| mesh[2].descriptor_name | Humans |
| mesh[3].qualifier_ui | Q000235 |
| mesh[3].descriptor_ui | D008607 |
| mesh[3].is_major_topic | True |
| mesh[3].qualifier_name | genetics |
| mesh[3].descriptor_name | Intellectual Disability |
| mesh[4].qualifier_ui | Q000235 |
| mesh[4].descriptor_ui | D009123 |
| mesh[4].is_major_topic | False |
| mesh[4].qualifier_name | genetics |
| mesh[4].descriptor_name | Muscle Hypotonia |
| mesh[5].qualifier_ui | Q000235 |
| mesh[5].descriptor_ui | D065886 |
| mesh[5].is_major_topic | True |
| mesh[5].qualifier_name | genetics |
| mesh[5].descriptor_name | Neurodevelopmental Disorders |
| mesh[6].qualifier_ui | |
| mesh[6].descriptor_ui | D010641 |
| mesh[6].is_major_topic | False |
| mesh[6].qualifier_name | |
| mesh[6].descriptor_name | Phenotype |
| mesh[7].qualifier_ui | Q000235 |
| mesh[7].descriptor_ui | D016601 |
| mesh[7].is_major_topic | False |
| mesh[7].qualifier_name | genetics |
| mesh[7].descriptor_name | RNA-Binding Proteins |
| mesh[8].qualifier_ui | |
| mesh[8].descriptor_ui | D002648 |
| mesh[8].is_major_topic | False |
| mesh[8].qualifier_name | |
| mesh[8].descriptor_name | Child |
| mesh[9].qualifier_ui | Q000235 |
| mesh[9].descriptor_ui | D002658 |
| mesh[9].is_major_topic | False |
| mesh[9].qualifier_name | genetics |
| mesh[9].descriptor_name | Developmental Disabilities |
| mesh[10].qualifier_ui | |
| mesh[10].descriptor_ui | D006801 |
| mesh[10].is_major_topic | False |
| mesh[10].qualifier_name | |
| mesh[10].descriptor_name | Humans |
| mesh[11].qualifier_ui | Q000235 |
| mesh[11].descriptor_ui | D008607 |
| mesh[11].is_major_topic | True |
| mesh[11].qualifier_name | genetics |
| mesh[11].descriptor_name | Intellectual Disability |
| mesh[12].qualifier_ui | Q000235 |
| mesh[12].descriptor_ui | D009123 |
| mesh[12].is_major_topic | False |
| mesh[12].qualifier_name | genetics |
| mesh[12].descriptor_name | Muscle Hypotonia |
| mesh[13].qualifier_ui | Q000235 |
| mesh[13].descriptor_ui | D065886 |
| mesh[13].is_major_topic | True |
| mesh[13].qualifier_name | genetics |
| mesh[13].descriptor_name | Neurodevelopmental Disorders |
| mesh[14].qualifier_ui | |
| mesh[14].descriptor_ui | D010641 |
| mesh[14].is_major_topic | False |
| mesh[14].qualifier_name | |
| mesh[14].descriptor_name | Phenotype |
| mesh[15].qualifier_ui | Q000235 |
| mesh[15].descriptor_ui | D016601 |
| mesh[15].is_major_topic | False |
| mesh[15].qualifier_name | genetics |
| mesh[15].descriptor_name | RNA-Binding Proteins |
| mesh[16].qualifier_ui | |
| mesh[16].descriptor_ui | D002648 |
| mesh[16].is_major_topic | False |
| mesh[16].qualifier_name | |
| mesh[16].descriptor_name | Child |
| mesh[17].qualifier_ui | Q000235 |
| mesh[17].descriptor_ui | D002658 |
| mesh[17].is_major_topic | False |
| mesh[17].qualifier_name | genetics |
| mesh[17].descriptor_name | Developmental Disabilities |
| mesh[18].qualifier_ui | |
| mesh[18].descriptor_ui | D006801 |
| mesh[18].is_major_topic | False |
| mesh[18].qualifier_name | |
| mesh[18].descriptor_name | Humans |
| mesh[19].qualifier_ui | Q000235 |
| mesh[19].descriptor_ui | D008607 |
| mesh[19].is_major_topic | True |
| mesh[19].qualifier_name | genetics |
| mesh[19].descriptor_name | Intellectual Disability |
| mesh[20].qualifier_ui | Q000235 |
| mesh[20].descriptor_ui | D009123 |
| mesh[20].is_major_topic | False |
| mesh[20].qualifier_name | genetics |
| mesh[20].descriptor_name | Muscle Hypotonia |
| mesh[21].qualifier_ui | Q000235 |
| mesh[21].descriptor_ui | D065886 |
| mesh[21].is_major_topic | True |
| mesh[21].qualifier_name | genetics |
| mesh[21].descriptor_name | Neurodevelopmental Disorders |
| mesh[22].qualifier_ui | |
| mesh[22].descriptor_ui | D010641 |
| mesh[22].is_major_topic | False |
| mesh[22].qualifier_name | |
| mesh[22].descriptor_name | Phenotype |
| mesh[23].qualifier_ui | Q000235 |
| mesh[23].descriptor_ui | D016601 |
| mesh[23].is_major_topic | False |
| mesh[23].qualifier_name | genetics |
| mesh[23].descriptor_name | RNA-Binding Proteins |
| type | article |
| title | Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder |
| biblio.issue | 8 |
| biblio.volume | 24 |
| biblio.last_page | 1780 |
| biblio.first_page | 1774 |
| topics[0].id | https://openalex.org/T10604 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9997000098228455 |
| topics[0].domain.id | https://openalex.org/domains/1 |
| topics[0].domain.display_name | Life Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/1312 |
| topics[0].subfield.display_name | Molecular Biology |
| topics[0].display_name | RNA Research and Splicing |
| topics[1].id | https://openalex.org/T11482 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9987999796867371 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1312 |
| topics[1].subfield.display_name | Molecular Biology |
| topics[1].display_name | RNA modifications and cancer |
| topics[2].id | https://openalex.org/T10949 |
| topics[2].field.id | https://openalex.org/fields/28 |
| topics[2].field.display_name | Neuroscience |
| topics[2].score | 0.9962999820709229 |
| topics[2].domain.id | https://openalex.org/domains/1 |
| topics[2].domain.display_name | Life Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/2804 |
| topics[2].subfield.display_name | Cellular and Molecular Neuroscience |
| topics[2].display_name | Genetic Neurodegenerative Diseases |
| is_xpac | False |
| apc_list.value | 4200 |
| apc_list.currency | USD |
| apc_list.value_usd | 4200 |
| apc_paid | |
| concepts[0].id | https://openalex.org/C105951970 |
| concepts[0].level | 4 |
| concepts[0].score | 0.5801483392715454 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q1036748 |
| concepts[0].display_name | Loss function |
| concepts[1].id | https://openalex.org/C2779388368 |
| concepts[1].level | 3 |
| concepts[1].score | 0.5006427764892578 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q3450985 |
| concepts[1].display_name | Neurodevelopmental disorder |
| concepts[2].id | https://openalex.org/C71924100 |
| concepts[2].level | 0 |
| concepts[2].score | 0.4620679020881653 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[2].display_name | Medicine |
| concepts[3].id | https://openalex.org/C14036430 |
| concepts[3].level | 2 |
| concepts[3].score | 0.4496607184410095 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q3736076 |
| concepts[3].display_name | Function (biology) |
| concepts[4].id | https://openalex.org/C54355233 |
| concepts[4].level | 1 |
| concepts[4].score | 0.3258233964443207 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[4].display_name | Genetics |
| concepts[5].id | https://openalex.org/C86803240 |
| concepts[5].level | 0 |
| concepts[5].score | 0.29118257761001587 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[5].display_name | Biology |
| concepts[6].id | https://openalex.org/C127716648 |
| concepts[6].level | 3 |
| concepts[6].score | 0.23074281215667725 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q104053 |
| concepts[6].display_name | Phenotype |
| concepts[7].id | https://openalex.org/C118552586 |
| concepts[7].level | 1 |
| concepts[7].score | 0.1970975697040558 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q7867 |
| concepts[7].display_name | Psychiatry |
| concepts[8].id | https://openalex.org/C205778803 |
| concepts[8].level | 2 |
| concepts[8].score | 0.15119096636772156 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q38404 |
| concepts[8].display_name | Autism |
| concepts[9].id | https://openalex.org/C104317684 |
| concepts[9].level | 2 |
| concepts[9].score | 0.08849963545799255 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[9].display_name | Gene |
| keywords[0].id | https://openalex.org/keywords/loss-function |
| keywords[0].score | 0.5801483392715454 |
| keywords[0].display_name | Loss function |
| keywords[1].id | https://openalex.org/keywords/neurodevelopmental-disorder |
| keywords[1].score | 0.5006427764892578 |
| keywords[1].display_name | Neurodevelopmental disorder |
| keywords[2].id | https://openalex.org/keywords/medicine |
| keywords[2].score | 0.4620679020881653 |
| keywords[2].display_name | Medicine |
| keywords[3].id | https://openalex.org/keywords/function |
| keywords[3].score | 0.4496607184410095 |
| keywords[3].display_name | Function (biology) |
| keywords[4].id | https://openalex.org/keywords/genetics |
| keywords[4].score | 0.3258233964443207 |
| keywords[4].display_name | Genetics |
| keywords[5].id | https://openalex.org/keywords/biology |
| keywords[5].score | 0.29118257761001587 |
| keywords[5].display_name | Biology |
| keywords[6].id | https://openalex.org/keywords/phenotype |
| keywords[6].score | 0.23074281215667725 |
| keywords[6].display_name | Phenotype |
| keywords[7].id | https://openalex.org/keywords/psychiatry |
| keywords[7].score | 0.1970975697040558 |
| keywords[7].display_name | Psychiatry |
| keywords[8].id | https://openalex.org/keywords/autism |
| keywords[8].score | 0.15119096636772156 |
| keywords[8].display_name | Autism |
| keywords[9].id | https://openalex.org/keywords/gene |
| keywords[9].score | 0.08849963545799255 |
| keywords[9].display_name | Gene |
| language | en |
| locations[0].id | doi:10.1016/j.gim.2022.04.011 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S187186932 |
| locations[0].source.issn | 1098-3600, 1530-0366 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | False |
| locations[0].source.issn_l | 1098-3600 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | False |
| locations[0].source.display_name | Genetics in Medicine |
| locations[0].source.host_organization | https://openalex.org/P4310320990 |
| locations[0].source.host_organization_name | Elsevier BV |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310320990 |
| locations[0].source.host_organization_lineage_names | Elsevier BV |
| locations[0].license | |
| locations[0].pdf_url | http://www.gimjournal.org/article/S1098360022007407/pdf |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | Genetics in Medicine |
| locations[0].landing_page_url | https://doi.org/10.1016/j.gim.2022.04.011 |
| locations[1].id | pmid:35567594 |
| 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 | Genetics in medicine : official journal of the American College of Medical Genetics |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/35567594 |
| locations[2].id | pmh:oai:lirias2repo.kuleuven.be:20.500.12942/698443 |
| locations[2].is_oa | False |
| locations[2].source.id | https://openalex.org/S4306401954 |
| 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 | Lirias (KU Leuven) |
| locations[2].source.host_organization | https://openalex.org/I99464096 |
| locations[2].source.host_organization_name | KU Leuven |
| locations[2].source.host_organization_lineage | https://openalex.org/I99464096 |
| locations[2].license | |
| locations[2].pdf_url | |
| locations[2].version | acceptedVersion |
| locations[2].raw_type | info:eu-repo/semantics/article |
| locations[2].license_id | |
| locations[2].is_accepted | True |
| locations[2].is_published | False |
| locations[2].raw_source_name | |
| locations[2].landing_page_url | https://lirias.kuleuven.be/handle/20.500.12942/698443 |
| locations[3].id | pmh:oai:repository.ubn.ru.nl:2066/282702 |
| locations[3].is_oa | False |
| locations[3].source.id | https://openalex.org/S4306401067 |
| 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 | Radboud Repository (Radboud University) |
| locations[3].source.host_organization | https://openalex.org/I145872427 |
| locations[3].source.host_organization_name | Radboud University Nijmegen |
| locations[3].source.host_organization_lineage | https://openalex.org/I145872427 |
| locations[3].license | |
| locations[3].pdf_url | |
| locations[3].version | submittedVersion |
| locations[3].raw_type | Article / Letter to editor |
| locations[3].license_id | |
| locations[3].is_accepted | False |
| locations[3].is_published | False |
| locations[3].raw_source_name | |
| locations[3].landing_page_url | https://repository.ubn.ru.nl/handle/2066/282702 |
| locations[4].id | pmh:rug:oai:pure.rug.nl:publications/77735448-7d5b-48ef-953d-3b8af8523b5e |
| locations[4].is_oa | True |
| locations[4].source.id | https://openalex.org/S4306401843 |
| locations[4].source.issn | |
| locations[4].source.type | repository |
| locations[4].source.is_oa | False |
| locations[4].source.issn_l | |
| locations[4].source.is_core | False |
| locations[4].source.is_in_doaj | False |
| locations[4].source.display_name | Data Archiving and Networked Services (DANS) |
| locations[4].source.host_organization | https://openalex.org/I1322597698 |
| locations[4].source.host_organization_name | Royal Netherlands Academy of Arts and Sciences |
| locations[4].source.host_organization_lineage | https://openalex.org/I1322597698 |
| locations[4].license | other-oa |
| locations[4].pdf_url | |
| locations[4].version | submittedVersion |
| locations[4].raw_type | info:eu-repo/semantics/article |
| locations[4].license_id | https://openalex.org/licenses/other-oa |
| locations[4].is_accepted | False |
| locations[4].is_published | False |
| locations[4].raw_source_name | Genetics in Medicine, 24(8), 1774 - 1780. Nature Publishing Group |
| locations[4].landing_page_url | https://research.rug.nl/en/publications/77735448-7d5b-48ef-953d-3b8af8523b5e |
| locations[5].id | pmh:um:oai:cris.maastrichtuniversity.nl:publications/40da9a50-b6d1-4326-b6d6-a0240ffd802d |
| locations[5].is_oa | False |
| locations[5].source.id | https://openalex.org/S4306401843 |
| locations[5].source.issn | |
| locations[5].source.type | repository |
| locations[5].source.is_oa | False |
| locations[5].source.issn_l | |
| locations[5].source.is_core | False |
| locations[5].source.is_in_doaj | False |
| locations[5].source.display_name | Data Archiving and Networked Services (DANS) |
| locations[5].source.host_organization | https://openalex.org/I1322597698 |
| locations[5].source.host_organization_name | Royal Netherlands Academy of Arts and Sciences |
| locations[5].source.host_organization_lineage | https://openalex.org/I1322597698 |
| locations[5].license | |
| locations[5].pdf_url | |
| locations[5].version | submittedVersion |
| locations[5].raw_type | info:eu-repo/semantics/article |
| locations[5].license_id | |
| locations[5].is_accepted | False |
| locations[5].is_published | False |
| locations[5].raw_source_name | Genetics in Medicine, 24(8), 1774 - 1780. Nature Publishing Group |
| locations[5].landing_page_url | https://cris.maastrichtuniversity.nl/en/publications/40da9a50-b6d1-4326-b6d6-a0240ffd802d |
| indexed_in | crossref, pubmed |
| authorships[0].author.id | https://openalex.org/A5043305705 |
| authorships[0].author.orcid | https://orcid.org/0000-0002-0763-5661 |
| authorships[0].author.display_name | Silvestre Cuinat |
| authorships[0].countries | FR |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I3019204325 |
| authorships[0].affiliations[0].raw_affiliation_string | Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France |
| authorships[0].institutions[0].id | https://openalex.org/I3019204325 |
| authorships[0].institutions[0].ror | https://ror.org/05c1qsg97 |
| authorships[0].institutions[0].type | healthcare |
| authorships[0].institutions[0].lineage | https://openalex.org/I3019204325 |
| authorships[0].institutions[0].country_code | FR |
| authorships[0].institutions[0].display_name | Centre Hospitalier Universitaire de Nantes |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Silvestre Cuinat |
| authorships[0].is_corresponding | True |
| authorships[0].raw_affiliation_strings | Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France |
| authorships[1].author.id | https://openalex.org/A5037487892 |
| authorships[1].author.orcid | https://orcid.org/0000-0003-2170-4210 |
| authorships[1].author.display_name | Mathilde Nizon |
| authorships[1].countries | FR |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[1].affiliations[0].raw_affiliation_string | Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France |
| authorships[1].affiliations[1].institution_ids | https://openalex.org/I3019204325 |
| authorships[1].affiliations[1].raw_affiliation_string | Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France |
| authorships[1].institutions[0].id | https://openalex.org/I3019204325 |
| authorships[1].institutions[0].ror | https://ror.org/05c1qsg97 |
| authorships[1].institutions[0].type | healthcare |
| authorships[1].institutions[0].lineage | https://openalex.org/I3019204325 |
| authorships[1].institutions[0].country_code | FR |
| authorships[1].institutions[0].display_name | Centre Hospitalier Universitaire de Nantes |
| authorships[1].institutions[1].id | https://openalex.org/I1294671590 |
| authorships[1].institutions[1].ror | https://ror.org/02feahw73 |
| authorships[1].institutions[1].type | government |
| authorships[1].institutions[1].lineage | https://openalex.org/I1294671590 |
| authorships[1].institutions[1].country_code | FR |
| authorships[1].institutions[1].display_name | Centre National de la Recherche Scientifique |
| authorships[1].institutions[2].id | https://openalex.org/I154526488 |
| authorships[1].institutions[2].ror | https://ror.org/02vjkv261 |
| authorships[1].institutions[2].type | government |
| authorships[1].institutions[2].lineage | https://openalex.org/I154526488 |
| authorships[1].institutions[2].country_code | FR |
| authorships[1].institutions[2].display_name | Inserm |
| authorships[1].institutions[3].id | https://openalex.org/I4210144168 |
| authorships[1].institutions[3].ror | https://ror.org/049kkt456 |
| authorships[1].institutions[3].type | facility |
| authorships[1].institutions[3].lineage | https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210096427, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[1].institutions[3].country_code | FR |
| authorships[1].institutions[3].display_name | Institut du Thorax |
| authorships[1].institutions[4].id | https://openalex.org/I97188460 |
| authorships[1].institutions[4].ror | https://ror.org/03gnr7b55 |
| authorships[1].institutions[4].type | education |
| authorships[1].institutions[4].lineage | https://openalex.org/I97188460 |
| authorships[1].institutions[4].country_code | FR |
| authorships[1].institutions[4].display_name | Nantes Université |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Mathilde Nizon |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France, Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France |
| authorships[2].author.id | https://openalex.org/A5061462589 |
| authorships[2].author.orcid | https://orcid.org/0000-0001-6480-126X |
| authorships[2].author.display_name | Bertrand Isidor |
| authorships[2].countries | FR |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I3019204325 |
| authorships[2].affiliations[0].raw_affiliation_string | Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France |
| authorships[2].affiliations[1].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[2].affiliations[1].raw_affiliation_string | Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France |
| authorships[2].institutions[0].id | https://openalex.org/I3019204325 |
| authorships[2].institutions[0].ror | https://ror.org/05c1qsg97 |
| authorships[2].institutions[0].type | healthcare |
| authorships[2].institutions[0].lineage | https://openalex.org/I3019204325 |
| authorships[2].institutions[0].country_code | FR |
| authorships[2].institutions[0].display_name | Centre Hospitalier Universitaire de Nantes |
| authorships[2].institutions[1].id | https://openalex.org/I1294671590 |
| authorships[2].institutions[1].ror | https://ror.org/02feahw73 |
| authorships[2].institutions[1].type | government |
| authorships[2].institutions[1].lineage | https://openalex.org/I1294671590 |
| authorships[2].institutions[1].country_code | FR |
| authorships[2].institutions[1].display_name | Centre National de la Recherche Scientifique |
| authorships[2].institutions[2].id | https://openalex.org/I154526488 |
| authorships[2].institutions[2].ror | https://ror.org/02vjkv261 |
| authorships[2].institutions[2].type | government |
| authorships[2].institutions[2].lineage | https://openalex.org/I154526488 |
| authorships[2].institutions[2].country_code | FR |
| authorships[2].institutions[2].display_name | Inserm |
| authorships[2].institutions[3].id | https://openalex.org/I4210144168 |
| authorships[2].institutions[3].ror | https://ror.org/049kkt456 |
| authorships[2].institutions[3].type | facility |
| authorships[2].institutions[3].lineage | https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210096427, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[2].institutions[3].country_code | FR |
| authorships[2].institutions[3].display_name | Institut du Thorax |
| authorships[2].institutions[4].id | https://openalex.org/I97188460 |
| authorships[2].institutions[4].ror | https://ror.org/03gnr7b55 |
| authorships[2].institutions[4].type | education |
| authorships[2].institutions[4].lineage | https://openalex.org/I97188460 |
| authorships[2].institutions[4].country_code | FR |
| authorships[2].institutions[4].display_name | Nantes Université |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Bertrand Isidor |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France, Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France |
| authorships[3].author.id | https://openalex.org/A5075919574 |
| authorships[3].author.orcid | https://orcid.org/0000-0002-9736-7137 |
| authorships[3].author.display_name | Alexander P.A. Stegmann |
| authorships[3].countries | NL |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I34352273 |
| authorships[3].affiliations[0].raw_affiliation_string | Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands |
| authorships[3].affiliations[1].institution_ids | https://openalex.org/I145872427, https://openalex.org/I2802934949 |
| authorships[3].affiliations[1].raw_affiliation_string | Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands |
| authorships[3].institutions[0].id | https://openalex.org/I34352273 |
| authorships[3].institutions[0].ror | https://ror.org/02jz4aj89 |
| authorships[3].institutions[0].type | education |
| authorships[3].institutions[0].lineage | https://openalex.org/I34352273 |
| authorships[3].institutions[0].country_code | NL |
| authorships[3].institutions[0].display_name | Maastricht University |
| authorships[3].institutions[1].id | https://openalex.org/I2802934949 |
| authorships[3].institutions[1].ror | https://ror.org/05wg1m734 |
| authorships[3].institutions[1].type | healthcare |
| authorships[3].institutions[1].lineage | https://openalex.org/I2802934949 |
| authorships[3].institutions[1].country_code | NL |
| authorships[3].institutions[1].display_name | Radboud University Medical Center |
| authorships[3].institutions[2].id | https://openalex.org/I145872427 |
| authorships[3].institutions[2].ror | https://ror.org/016xsfp80 |
| authorships[3].institutions[2].type | education |
| authorships[3].institutions[2].lineage | https://openalex.org/I145872427 |
| authorships[3].institutions[2].country_code | NL |
| authorships[3].institutions[2].display_name | Radboud University Nijmegen |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Alexander Stegmann |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands |
| authorships[4].author.id | https://openalex.org/A5079368842 |
| authorships[4].author.orcid | https://orcid.org/0000-0001-5247-6965 |
| authorships[4].author.display_name | Richard H. van Jaarsveld |
| authorships[4].countries | NL |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I3018483916 |
| authorships[4].affiliations[0].raw_affiliation_string | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[4].institutions[0].id | https://openalex.org/I3018483916 |
| authorships[4].institutions[0].ror | https://ror.org/0575yy874 |
| authorships[4].institutions[0].type | healthcare |
| authorships[4].institutions[0].lineage | https://openalex.org/I3018483916 |
| authorships[4].institutions[0].country_code | NL |
| authorships[4].institutions[0].display_name | University Medical Center Utrecht |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Richard H. van Jaarsveld |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[5].author.id | https://openalex.org/A5041388991 |
| authorships[5].author.orcid | https://orcid.org/0000-0001-7934-0662 |
| authorships[5].author.display_name | Koen L.I. van Gassen |
| authorships[5].countries | NL |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I3018483916 |
| authorships[5].affiliations[0].raw_affiliation_string | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[5].institutions[0].id | https://openalex.org/I3018483916 |
| authorships[5].institutions[0].ror | https://ror.org/0575yy874 |
| authorships[5].institutions[0].type | healthcare |
| authorships[5].institutions[0].lineage | https://openalex.org/I3018483916 |
| authorships[5].institutions[0].country_code | NL |
| authorships[5].institutions[0].display_name | University Medical Center Utrecht |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Koen L. van Gassen |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[6].author.id | https://openalex.org/A5113673344 |
| authorships[6].author.orcid | |
| authorships[6].author.display_name | Jasper J. van der Smagt |
| authorships[6].countries | NL |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I3018483916 |
| authorships[6].affiliations[0].raw_affiliation_string | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[6].institutions[0].id | https://openalex.org/I3018483916 |
| authorships[6].institutions[0].ror | https://ror.org/0575yy874 |
| authorships[6].institutions[0].type | healthcare |
| authorships[6].institutions[0].lineage | https://openalex.org/I3018483916 |
| authorships[6].institutions[0].country_code | NL |
| authorships[6].institutions[0].display_name | University Medical Center Utrecht |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Jasper J. van der Smagt |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[7].author.id | https://openalex.org/A5009728986 |
| authorships[7].author.orcid | |
| authorships[7].author.display_name | Catharina M.L. Volker‐Touw |
| authorships[7].countries | NL |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I3018483916 |
| authorships[7].affiliations[0].raw_affiliation_string | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[7].institutions[0].id | https://openalex.org/I3018483916 |
| authorships[7].institutions[0].ror | https://ror.org/0575yy874 |
| authorships[7].institutions[0].type | healthcare |
| authorships[7].institutions[0].lineage | https://openalex.org/I3018483916 |
| authorships[7].institutions[0].country_code | NL |
| authorships[7].institutions[0].display_name | University Medical Center Utrecht |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Catharina M.L. Volker-Touw |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[8].author.id | https://openalex.org/A5017951158 |
| authorships[8].author.orcid | |
| authorships[8].author.display_name | Sjoerd J.B. Holwerda |
| authorships[8].countries | NL |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I3018483916 |
| authorships[8].affiliations[0].raw_affiliation_string | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[8].institutions[0].id | https://openalex.org/I3018483916 |
| authorships[8].institutions[0].ror | https://ror.org/0575yy874 |
| authorships[8].institutions[0].type | healthcare |
| authorships[8].institutions[0].lineage | https://openalex.org/I3018483916 |
| authorships[8].institutions[0].country_code | NL |
| authorships[8].institutions[0].display_name | University Medical Center Utrecht |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Sjoerd J.B. Holwerda |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[9].author.id | https://openalex.org/A5005714956 |
| authorships[9].author.orcid | |
| authorships[9].author.display_name | Paulien A. Terhal |
| authorships[9].countries | NL |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I3018483916 |
| authorships[9].affiliations[0].raw_affiliation_string | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[9].institutions[0].id | https://openalex.org/I3018483916 |
| authorships[9].institutions[0].ror | https://ror.org/0575yy874 |
| authorships[9].institutions[0].type | healthcare |
| authorships[9].institutions[0].lineage | https://openalex.org/I3018483916 |
| authorships[9].institutions[0].country_code | NL |
| authorships[9].institutions[0].display_name | University Medical Center Utrecht |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Paulien A. Terhal |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[10].author.id | https://openalex.org/A5005979782 |
| authorships[10].author.orcid | https://orcid.org/0000-0002-6775-3547 |
| authorships[10].author.display_name | Sarah Schuhmann |
| authorships[10].countries | DE |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I181369854, https://openalex.org/I4210088053 |
| authorships[10].affiliations[0].raw_affiliation_string | Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany |
| authorships[10].institutions[0].id | https://openalex.org/I181369854 |
| authorships[10].institutions[0].ror | https://ror.org/00f7hpc57 |
| authorships[10].institutions[0].type | education |
| authorships[10].institutions[0].lineage | https://openalex.org/I181369854 |
| authorships[10].institutions[0].country_code | DE |
| authorships[10].institutions[0].display_name | Friedrich-Alexander-Universität Erlangen-Nürnberg |
| authorships[10].institutions[1].id | https://openalex.org/I4210088053 |
| authorships[10].institutions[1].ror | https://ror.org/0030f2a11 |
| authorships[10].institutions[1].type | healthcare |
| authorships[10].institutions[1].lineage | https://openalex.org/I4210088053 |
| authorships[10].institutions[1].country_code | DE |
| authorships[10].institutions[1].display_name | Universitätsklinikum Erlangen |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Sarah Schuhmann |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany |
| authorships[11].author.id | https://openalex.org/A5030571851 |
| authorships[11].author.orcid | https://orcid.org/0000-0002-1993-1134 |
| authorships[11].author.display_name | Georgia Vasileiou |
| authorships[11].countries | DE |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I181369854, https://openalex.org/I4210088053 |
| authorships[11].affiliations[0].raw_affiliation_string | Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany |
| authorships[11].institutions[0].id | https://openalex.org/I181369854 |
| authorships[11].institutions[0].ror | https://ror.org/00f7hpc57 |
| authorships[11].institutions[0].type | education |
| authorships[11].institutions[0].lineage | https://openalex.org/I181369854 |
| authorships[11].institutions[0].country_code | DE |
| authorships[11].institutions[0].display_name | Friedrich-Alexander-Universität Erlangen-Nürnberg |
| authorships[11].institutions[1].id | https://openalex.org/I4210088053 |
| authorships[11].institutions[1].ror | https://ror.org/0030f2a11 |
| authorships[11].institutions[1].type | healthcare |
| authorships[11].institutions[1].lineage | https://openalex.org/I4210088053 |
| authorships[11].institutions[1].country_code | DE |
| authorships[11].institutions[1].display_name | Universitätsklinikum Erlangen |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Georgia Vasileiou |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany |
| authorships[12].author.id | https://openalex.org/A5103006229 |
| authorships[12].author.orcid | |
| authorships[12].author.display_name | Mohamed Khalifa |
| authorships[12].countries | AE |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I1287366011 |
| authorships[12].affiliations[0].raw_affiliation_string | Genetic Department, Dubai Health Authority, Latifa Women and Children Hospital, Dubai, United Arab Emirates |
| authorships[12].institutions[0].id | https://openalex.org/I1287366011 |
| authorships[12].institutions[0].ror | https://ror.org/01dcrt245 |
| authorships[12].institutions[0].type | government |
| authorships[12].institutions[0].lineage | https://openalex.org/I1287366011 |
| authorships[12].institutions[0].country_code | AE |
| authorships[12].institutions[0].display_name | Dubai Health Authority |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | Mohamed Khalifa |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | Genetic Department, Dubai Health Authority, Latifa Women and Children Hospital, Dubai, United Arab Emirates |
| authorships[13].author.id | https://openalex.org/A5084699158 |
| authorships[13].author.orcid | |
| authorships[13].author.display_name | Alaa Nugud |
| authorships[13].countries | AE |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I1287366011 |
| authorships[13].affiliations[0].raw_affiliation_string | Genetic Department, Dubai Health Authority, Latifa Women and Children Hospital, Dubai, United Arab Emirates |
| authorships[13].institutions[0].id | https://openalex.org/I1287366011 |
| authorships[13].institutions[0].ror | https://ror.org/01dcrt245 |
| authorships[13].institutions[0].type | government |
| authorships[13].institutions[0].lineage | https://openalex.org/I1287366011 |
| authorships[13].institutions[0].country_code | AE |
| authorships[13].institutions[0].display_name | Dubai Health Authority |
| authorships[13].author_position | middle |
| authorships[13].raw_author_name | Alaa A. Nugud |
| authorships[13].is_corresponding | False |
| authorships[13].raw_affiliation_strings | Genetic Department, Dubai Health Authority, Latifa Women and Children Hospital, Dubai, United Arab Emirates |
| authorships[14].author.id | https://openalex.org/A5059509703 |
| authorships[14].author.orcid | |
| authorships[14].author.display_name | Hemad Yasaei |
| authorships[14].countries | AE |
| authorships[14].affiliations[0].institution_ids | https://openalex.org/I1287366011 |
| authorships[14].affiliations[0].raw_affiliation_string | Dubai Genetics Center, Pathology and Genetics Department, Dubai Health Authority, Dubai, United Arab Emirates |
| authorships[14].institutions[0].id | https://openalex.org/I1287366011 |
| authorships[14].institutions[0].ror | https://ror.org/01dcrt245 |
| authorships[14].institutions[0].type | government |
| authorships[14].institutions[0].lineage | https://openalex.org/I1287366011 |
| authorships[14].institutions[0].country_code | AE |
| authorships[14].institutions[0].display_name | Dubai Health Authority |
| authorships[14].author_position | middle |
| authorships[14].raw_author_name | Hemad Yasaei |
| authorships[14].is_corresponding | False |
| authorships[14].raw_affiliation_strings | Dubai Genetics Center, Pathology and Genetics Department, Dubai Health Authority, Dubai, United Arab Emirates |
| authorships[15].author.id | https://openalex.org/A5080089635 |
| authorships[15].author.orcid | https://orcid.org/0000-0001-9936-2201 |
| authorships[15].author.display_name | Lilian Bomme Ousager |
| authorships[15].countries | DK |
| authorships[15].affiliations[0].institution_ids | https://openalex.org/I177969490, https://openalex.org/I2801498763 |
| authorships[15].affiliations[0].raw_affiliation_string | Department of Clinical Research, Odense University Hospital, University of Southern Denmark, Odense, Denmark |
| authorships[15].affiliations[1].institution_ids | https://openalex.org/I177969490, https://openalex.org/I2801498763 |
| authorships[15].affiliations[1].raw_affiliation_string | Department of Clinical Genetics & Human Genetics, Odense University Hospital, University of Southern Denmark, Odense, Denmark |
| authorships[15].institutions[0].id | https://openalex.org/I2801498763 |
| authorships[15].institutions[0].ror | https://ror.org/00ey0ed83 |
| authorships[15].institutions[0].type | healthcare |
| authorships[15].institutions[0].lineage | https://openalex.org/I2801498763 |
| authorships[15].institutions[0].country_code | DK |
| authorships[15].institutions[0].display_name | Odense University Hospital |
| authorships[15].institutions[1].id | https://openalex.org/I177969490 |
| authorships[15].institutions[1].ror | https://ror.org/03yrrjy16 |
| authorships[15].institutions[1].type | education |
| authorships[15].institutions[1].lineage | https://openalex.org/I177969490 |
| authorships[15].institutions[1].country_code | DK |
| authorships[15].institutions[1].display_name | University of Southern Denmark |
| authorships[15].author_position | middle |
| authorships[15].raw_author_name | Lilian Bomme Ousager |
| authorships[15].is_corresponding | False |
| authorships[15].raw_affiliation_strings | Department of Clinical Genetics & Human Genetics, Odense University Hospital, University of Southern Denmark, Odense, Denmark, Department of Clinical Research, Odense University Hospital, University of Southern Denmark, Odense, Denmark |
| authorships[16].author.id | https://openalex.org/A5090663610 |
| authorships[16].author.orcid | https://orcid.org/0000-0003-4273-0047 |
| authorships[16].author.display_name | Charlotte Brasch‐Andersen |
| authorships[16].countries | DK |
| authorships[16].affiliations[0].institution_ids | https://openalex.org/I177969490, https://openalex.org/I2801498763 |
| authorships[16].affiliations[0].raw_affiliation_string | Department of Clinical Research, Odense University Hospital, University of Southern Denmark, Odense, Denmark |
| authorships[16].affiliations[1].institution_ids | https://openalex.org/I177969490, https://openalex.org/I2801498763 |
| authorships[16].affiliations[1].raw_affiliation_string | Department of Clinical Genetics & Human Genetics, Odense University Hospital, University of Southern Denmark, Odense, Denmark |
| authorships[16].institutions[0].id | https://openalex.org/I2801498763 |
| authorships[16].institutions[0].ror | https://ror.org/00ey0ed83 |
| authorships[16].institutions[0].type | healthcare |
| authorships[16].institutions[0].lineage | https://openalex.org/I2801498763 |
| authorships[16].institutions[0].country_code | DK |
| authorships[16].institutions[0].display_name | Odense University Hospital |
| authorships[16].institutions[1].id | https://openalex.org/I177969490 |
| authorships[16].institutions[1].ror | https://ror.org/03yrrjy16 |
| authorships[16].institutions[1].type | education |
| authorships[16].institutions[1].lineage | https://openalex.org/I177969490 |
| authorships[16].institutions[1].country_code | DK |
| authorships[16].institutions[1].display_name | University of Southern Denmark |
| authorships[16].author_position | middle |
| authorships[16].raw_author_name | Charlotte Brasch-Andersen |
| authorships[16].is_corresponding | False |
| authorships[16].raw_affiliation_strings | Department of Clinical Genetics & Human Genetics, Odense University Hospital, University of Southern Denmark, Odense, Denmark, Department of Clinical Research, Odense University Hospital, University of Southern Denmark, Odense, Denmark |
| authorships[17].author.id | https://openalex.org/A5080826095 |
| authorships[17].author.orcid | https://orcid.org/0000-0002-5103-8573 |
| authorships[17].author.display_name | Wallid Deb |
| authorships[17].countries | FR |
| authorships[17].affiliations[0].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[17].affiliations[0].raw_affiliation_string | Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France |
| authorships[17].affiliations[1].institution_ids | https://openalex.org/I3019204325 |
| authorships[17].affiliations[1].raw_affiliation_string | Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France |
| authorships[17].institutions[0].id | https://openalex.org/I3019204325 |
| authorships[17].institutions[0].ror | https://ror.org/05c1qsg97 |
| authorships[17].institutions[0].type | healthcare |
| authorships[17].institutions[0].lineage | https://openalex.org/I3019204325 |
| authorships[17].institutions[0].country_code | FR |
| authorships[17].institutions[0].display_name | Centre Hospitalier Universitaire de Nantes |
| authorships[17].institutions[1].id | https://openalex.org/I1294671590 |
| authorships[17].institutions[1].ror | https://ror.org/02feahw73 |
| authorships[17].institutions[1].type | government |
| authorships[17].institutions[1].lineage | https://openalex.org/I1294671590 |
| authorships[17].institutions[1].country_code | FR |
| authorships[17].institutions[1].display_name | Centre National de la Recherche Scientifique |
| authorships[17].institutions[2].id | https://openalex.org/I154526488 |
| authorships[17].institutions[2].ror | https://ror.org/02vjkv261 |
| authorships[17].institutions[2].type | government |
| authorships[17].institutions[2].lineage | https://openalex.org/I154526488 |
| authorships[17].institutions[2].country_code | FR |
| authorships[17].institutions[2].display_name | Inserm |
| authorships[17].institutions[3].id | https://openalex.org/I4210144168 |
| authorships[17].institutions[3].ror | https://ror.org/049kkt456 |
| authorships[17].institutions[3].type | facility |
| authorships[17].institutions[3].lineage | https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210096427, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[17].institutions[3].country_code | FR |
| authorships[17].institutions[3].display_name | Institut du Thorax |
| authorships[17].institutions[4].id | https://openalex.org/I97188460 |
| authorships[17].institutions[4].ror | https://ror.org/03gnr7b55 |
| authorships[17].institutions[4].type | education |
| authorships[17].institutions[4].lineage | https://openalex.org/I97188460 |
| authorships[17].institutions[4].country_code | FR |
| authorships[17].institutions[4].display_name | Nantes Université |
| authorships[17].author_position | middle |
| authorships[17].raw_author_name | Wallid Deb |
| authorships[17].is_corresponding | False |
| authorships[17].raw_affiliation_strings | Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France, Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France |
| authorships[18].author.id | https://openalex.org/A5033909318 |
| authorships[18].author.orcid | https://orcid.org/0000-0003-4804-5147 |
| authorships[18].author.display_name | Thomas Besnard |
| authorships[18].countries | FR |
| authorships[18].affiliations[0].institution_ids | https://openalex.org/I3019204325 |
| authorships[18].affiliations[0].raw_affiliation_string | Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France |
| authorships[18].affiliations[1].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[18].affiliations[1].raw_affiliation_string | Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France |
| authorships[18].institutions[0].id | https://openalex.org/I3019204325 |
| authorships[18].institutions[0].ror | https://ror.org/05c1qsg97 |
| authorships[18].institutions[0].type | healthcare |
| authorships[18].institutions[0].lineage | https://openalex.org/I3019204325 |
| authorships[18].institutions[0].country_code | FR |
| authorships[18].institutions[0].display_name | Centre Hospitalier Universitaire de Nantes |
| authorships[18].institutions[1].id | https://openalex.org/I1294671590 |
| authorships[18].institutions[1].ror | https://ror.org/02feahw73 |
| authorships[18].institutions[1].type | government |
| authorships[18].institutions[1].lineage | https://openalex.org/I1294671590 |
| authorships[18].institutions[1].country_code | FR |
| authorships[18].institutions[1].display_name | Centre National de la Recherche Scientifique |
| authorships[18].institutions[2].id | https://openalex.org/I154526488 |
| authorships[18].institutions[2].ror | https://ror.org/02vjkv261 |
| authorships[18].institutions[2].type | government |
| authorships[18].institutions[2].lineage | https://openalex.org/I154526488 |
| authorships[18].institutions[2].country_code | FR |
| authorships[18].institutions[2].display_name | Inserm |
| authorships[18].institutions[3].id | https://openalex.org/I4210144168 |
| authorships[18].institutions[3].ror | https://ror.org/049kkt456 |
| authorships[18].institutions[3].type | facility |
| authorships[18].institutions[3].lineage | https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210096427, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[18].institutions[3].country_code | FR |
| authorships[18].institutions[3].display_name | Institut du Thorax |
| authorships[18].institutions[4].id | https://openalex.org/I97188460 |
| authorships[18].institutions[4].ror | https://ror.org/03gnr7b55 |
| authorships[18].institutions[4].type | education |
| authorships[18].institutions[4].lineage | https://openalex.org/I97188460 |
| authorships[18].institutions[4].country_code | FR |
| authorships[18].institutions[4].display_name | Nantes Université |
| authorships[18].author_position | middle |
| authorships[18].raw_author_name | Thomas Besnard |
| authorships[18].is_corresponding | False |
| authorships[18].raw_affiliation_strings | Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France, Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France |
| authorships[19].author.id | https://openalex.org/A5073354779 |
| authorships[19].author.orcid | |
| authorships[19].author.display_name | Marleen Simon |
| authorships[19].countries | NL |
| authorships[19].affiliations[0].institution_ids | https://openalex.org/I3018483916 |
| authorships[19].affiliations[0].raw_affiliation_string | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[19].institutions[0].id | https://openalex.org/I3018483916 |
| authorships[19].institutions[0].ror | https://ror.org/0575yy874 |
| authorships[19].institutions[0].type | healthcare |
| authorships[19].institutions[0].lineage | https://openalex.org/I3018483916 |
| authorships[19].institutions[0].country_code | NL |
| authorships[19].institutions[0].display_name | University Medical Center Utrecht |
| authorships[19].author_position | middle |
| authorships[19].raw_author_name | Marleen E.H. Simon |
| authorships[19].is_corresponding | False |
| authorships[19].raw_affiliation_strings | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[20].author.id | https://openalex.org/A5059396957 |
| authorships[20].author.orcid | |
| authorships[20].author.display_name | Karin Huijsdens–van Amsterdam |
| authorships[20].countries | NL |
| authorships[20].affiliations[0].institution_ids | https://openalex.org/I3018483916 |
| authorships[20].affiliations[0].raw_affiliation_string | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[20].institutions[0].id | https://openalex.org/I3018483916 |
| authorships[20].institutions[0].ror | https://ror.org/0575yy874 |
| authorships[20].institutions[0].type | healthcare |
| authorships[20].institutions[0].lineage | https://openalex.org/I3018483916 |
| authorships[20].institutions[0].country_code | NL |
| authorships[20].institutions[0].display_name | University Medical Center Utrecht |
| authorships[20].author_position | middle |
| authorships[20].raw_author_name | Karin Huijsdens-van Amsterdam |
| authorships[20].is_corresponding | False |
| authorships[20].raw_affiliation_strings | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[21].author.id | https://openalex.org/A5110178243 |
| authorships[21].author.orcid | |
| authorships[21].author.display_name | Nienke E. Verbeek |
| authorships[21].countries | NL |
| authorships[21].affiliations[0].institution_ids | https://openalex.org/I3018483916 |
| authorships[21].affiliations[0].raw_affiliation_string | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[21].institutions[0].id | https://openalex.org/I3018483916 |
| authorships[21].institutions[0].ror | https://ror.org/0575yy874 |
| authorships[21].institutions[0].type | healthcare |
| authorships[21].institutions[0].lineage | https://openalex.org/I3018483916 |
| authorships[21].institutions[0].country_code | NL |
| authorships[21].institutions[0].display_name | University Medical Center Utrecht |
| authorships[21].author_position | middle |
| authorships[21].raw_author_name | Nienke E. Verbeek |
| authorships[21].is_corresponding | False |
| authorships[21].raw_affiliation_strings | Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands |
| authorships[22].author.id | https://openalex.org/A5002391023 |
| authorships[22].author.orcid | https://orcid.org/0000-0001-8616-7239 |
| authorships[22].author.display_name | Dena R. Matalon |
| authorships[22].countries | US |
| authorships[22].affiliations[0].institution_ids | https://openalex.org/I4210105015, https://openalex.org/I97018004 |
| authorships[22].affiliations[0].raw_affiliation_string | Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA |
| authorships[22].institutions[0].id | https://openalex.org/I4210105015 |
| authorships[22].institutions[0].ror | https://ror.org/019wqcg20 |
| authorships[22].institutions[0].type | healthcare |
| authorships[22].institutions[0].lineage | https://openalex.org/I4210105015 |
| authorships[22].institutions[0].country_code | US |
| authorships[22].institutions[0].display_name | Stanford Health Care |
| authorships[22].institutions[1].id | https://openalex.org/I97018004 |
| authorships[22].institutions[1].ror | https://ror.org/00f54p054 |
| authorships[22].institutions[1].type | education |
| authorships[22].institutions[1].lineage | https://openalex.org/I97018004 |
| authorships[22].institutions[1].country_code | US |
| authorships[22].institutions[1].display_name | Stanford University |
| authorships[22].author_position | middle |
| authorships[22].raw_author_name | Dena Matalon |
| authorships[22].is_corresponding | False |
| authorships[22].raw_affiliation_strings | Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA |
| authorships[23].author.id | https://openalex.org/A5051423204 |
| authorships[23].author.orcid | |
| authorships[23].author.display_name | Natalie Dykzeul |
| authorships[23].countries | US |
| authorships[23].affiliations[0].institution_ids | https://openalex.org/I4210105015, https://openalex.org/I97018004 |
| authorships[23].affiliations[0].raw_affiliation_string | Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA |
| authorships[23].institutions[0].id | https://openalex.org/I4210105015 |
| authorships[23].institutions[0].ror | https://ror.org/019wqcg20 |
| authorships[23].institutions[0].type | healthcare |
| authorships[23].institutions[0].lineage | https://openalex.org/I4210105015 |
| authorships[23].institutions[0].country_code | US |
| authorships[23].institutions[0].display_name | Stanford Health Care |
| authorships[23].institutions[1].id | https://openalex.org/I97018004 |
| authorships[23].institutions[1].ror | https://ror.org/00f54p054 |
| authorships[23].institutions[1].type | education |
| authorships[23].institutions[1].lineage | https://openalex.org/I97018004 |
| authorships[23].institutions[1].country_code | US |
| authorships[23].institutions[1].display_name | Stanford University |
| authorships[23].author_position | middle |
| authorships[23].raw_author_name | Natalie Dykzeul |
| authorships[23].is_corresponding | False |
| authorships[23].raw_affiliation_strings | Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA |
| authorships[24].author.id | https://openalex.org/A5083371244 |
| authorships[24].author.orcid | |
| authorships[24].author.display_name | Shana White |
| authorships[24].countries | US |
| authorships[24].affiliations[0].institution_ids | https://openalex.org/I4210105015, https://openalex.org/I97018004 |
| authorships[24].affiliations[0].raw_affiliation_string | Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA |
| authorships[24].institutions[0].id | https://openalex.org/I4210105015 |
| authorships[24].institutions[0].ror | https://ror.org/019wqcg20 |
| authorships[24].institutions[0].type | healthcare |
| authorships[24].institutions[0].lineage | https://openalex.org/I4210105015 |
| authorships[24].institutions[0].country_code | US |
| authorships[24].institutions[0].display_name | Stanford Health Care |
| authorships[24].institutions[1].id | https://openalex.org/I97018004 |
| authorships[24].institutions[1].ror | https://ror.org/00f54p054 |
| authorships[24].institutions[1].type | education |
| authorships[24].institutions[1].lineage | https://openalex.org/I97018004 |
| authorships[24].institutions[1].country_code | US |
| authorships[24].institutions[1].display_name | Stanford University |
| authorships[24].author_position | middle |
| authorships[24].raw_author_name | Shana White |
| authorships[24].is_corresponding | False |
| authorships[24].raw_affiliation_strings | Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA |
| authorships[25].author.id | https://openalex.org/A5074568339 |
| authorships[25].author.orcid | https://orcid.org/0000-0002-3724-3300 |
| authorships[25].author.display_name | Elizabeth Spiteri |
| authorships[25].countries | US |
| authorships[25].affiliations[0].institution_ids | https://openalex.org/I4210105015, https://openalex.org/I97018004 |
| authorships[25].affiliations[0].raw_affiliation_string | Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA |
| authorships[25].institutions[0].id | https://openalex.org/I4210105015 |
| authorships[25].institutions[0].ror | https://ror.org/019wqcg20 |
| authorships[25].institutions[0].type | healthcare |
| authorships[25].institutions[0].lineage | https://openalex.org/I4210105015 |
| authorships[25].institutions[0].country_code | US |
| authorships[25].institutions[0].display_name | Stanford Health Care |
| authorships[25].institutions[1].id | https://openalex.org/I97018004 |
| authorships[25].institutions[1].ror | https://ror.org/00f54p054 |
| authorships[25].institutions[1].type | education |
| authorships[25].institutions[1].lineage | https://openalex.org/I97018004 |
| authorships[25].institutions[1].country_code | US |
| authorships[25].institutions[1].display_name | Stanford University |
| authorships[25].author_position | middle |
| authorships[25].raw_author_name | Elizabeth Spiteri |
| authorships[25].is_corresponding | False |
| authorships[25].raw_affiliation_strings | Department of Pediatric, Division of Medical Genetics, Stanford University and Health Care, Palo Alto, CA |
| authorships[26].author.id | https://openalex.org/A5073467702 |
| authorships[26].author.orcid | https://orcid.org/0000-0002-3651-2548 |
| authorships[26].author.display_name | Koenraad Devriendt |
| authorships[26].countries | BE |
| authorships[26].affiliations[0].institution_ids | https://openalex.org/I99464096 |
| authorships[26].affiliations[0].raw_affiliation_string | Center for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49, Leuven, Belgium |
| authorships[26].institutions[0].id | https://openalex.org/I99464096 |
| authorships[26].institutions[0].ror | https://ror.org/05f950310 |
| authorships[26].institutions[0].type | education |
| authorships[26].institutions[0].lineage | https://openalex.org/I99464096 |
| authorships[26].institutions[0].country_code | BE |
| authorships[26].institutions[0].display_name | KU Leuven |
| authorships[26].author_position | middle |
| authorships[26].raw_author_name | Koen Devriendt |
| authorships[26].is_corresponding | False |
| authorships[26].raw_affiliation_strings | Center for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49, Leuven, Belgium |
| authorships[27].author.id | https://openalex.org/A5014707490 |
| authorships[27].author.orcid | |
| authorships[27].author.display_name | Anneleen Boogaerts |
| authorships[27].countries | BE |
| authorships[27].affiliations[0].institution_ids | https://openalex.org/I99464096 |
| authorships[27].affiliations[0].raw_affiliation_string | Center for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49, Leuven, Belgium |
| authorships[27].institutions[0].id | https://openalex.org/I99464096 |
| authorships[27].institutions[0].ror | https://ror.org/05f950310 |
| authorships[27].institutions[0].type | education |
| authorships[27].institutions[0].lineage | https://openalex.org/I99464096 |
| authorships[27].institutions[0].country_code | BE |
| authorships[27].institutions[0].display_name | KU Leuven |
| authorships[27].author_position | middle |
| authorships[27].raw_author_name | Anneleen Boogaerts |
| authorships[27].is_corresponding | False |
| authorships[27].raw_affiliation_strings | Center for Human Genetics, University Hospital Leuven, KU Leuven, O&N I Herestraat 49, Leuven, Belgium |
| authorships[28].author.id | https://openalex.org/A5052651492 |
| authorships[28].author.orcid | https://orcid.org/0000-0003-1213-5773 |
| authorships[28].author.display_name | Marjolein H. Willemsen |
| authorships[28].countries | NL |
| authorships[28].affiliations[0].institution_ids | https://openalex.org/I145872427, https://openalex.org/I2802934949 |
| authorships[28].affiliations[0].raw_affiliation_string | Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands |
| authorships[28].affiliations[1].institution_ids | https://openalex.org/I34352273 |
| authorships[28].affiliations[1].raw_affiliation_string | Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands |
| authorships[28].institutions[0].id | https://openalex.org/I34352273 |
| authorships[28].institutions[0].ror | https://ror.org/02jz4aj89 |
| authorships[28].institutions[0].type | education |
| authorships[28].institutions[0].lineage | https://openalex.org/I34352273 |
| authorships[28].institutions[0].country_code | NL |
| authorships[28].institutions[0].display_name | Maastricht University |
| authorships[28].institutions[1].id | https://openalex.org/I2802934949 |
| authorships[28].institutions[1].ror | https://ror.org/05wg1m734 |
| authorships[28].institutions[1].type | healthcare |
| authorships[28].institutions[1].lineage | https://openalex.org/I2802934949 |
| authorships[28].institutions[1].country_code | NL |
| authorships[28].institutions[1].display_name | Radboud University Medical Center |
| authorships[28].institutions[2].id | https://openalex.org/I145872427 |
| authorships[28].institutions[2].ror | https://ror.org/016xsfp80 |
| authorships[28].institutions[2].type | education |
| authorships[28].institutions[2].lineage | https://openalex.org/I145872427 |
| authorships[28].institutions[2].country_code | NL |
| authorships[28].institutions[2].display_name | Radboud University Nijmegen |
| authorships[28].author_position | middle |
| authorships[28].raw_author_name | Marjolein Willemsen |
| authorships[28].is_corresponding | False |
| authorships[28].raw_affiliation_strings | Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands |
| authorships[29].author.id | https://openalex.org/A5030485933 |
| authorships[29].author.orcid | https://orcid.org/0000-0001-9274-8865 |
| authorships[29].author.display_name | Han G. Brunner |
| authorships[29].countries | NL |
| authorships[29].affiliations[0].institution_ids | https://openalex.org/I145872427, https://openalex.org/I2802934949 |
| authorships[29].affiliations[0].raw_affiliation_string | Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands |
| authorships[29].affiliations[1].institution_ids | https://openalex.org/I34352273 |
| authorships[29].affiliations[1].raw_affiliation_string | Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands |
| authorships[29].institutions[0].id | https://openalex.org/I34352273 |
| authorships[29].institutions[0].ror | https://ror.org/02jz4aj89 |
| authorships[29].institutions[0].type | education |
| authorships[29].institutions[0].lineage | https://openalex.org/I34352273 |
| authorships[29].institutions[0].country_code | NL |
| authorships[29].institutions[0].display_name | Maastricht University |
| authorships[29].institutions[1].id | https://openalex.org/I2802934949 |
| authorships[29].institutions[1].ror | https://ror.org/05wg1m734 |
| authorships[29].institutions[1].type | healthcare |
| authorships[29].institutions[1].lineage | https://openalex.org/I2802934949 |
| authorships[29].institutions[1].country_code | NL |
| authorships[29].institutions[1].display_name | Radboud University Medical Center |
| authorships[29].institutions[2].id | https://openalex.org/I145872427 |
| authorships[29].institutions[2].ror | https://ror.org/016xsfp80 |
| authorships[29].institutions[2].type | education |
| authorships[29].institutions[2].lineage | https://openalex.org/I145872427 |
| authorships[29].institutions[2].country_code | NL |
| authorships[29].institutions[2].display_name | Radboud University Nijmegen |
| authorships[29].author_position | middle |
| authorships[29].raw_author_name | Han G. Brunner |
| authorships[29].is_corresponding | False |
| authorships[29].raw_affiliation_strings | Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands |
| authorships[30].author.id | https://openalex.org/A5024331490 |
| authorships[30].author.orcid | |
| authorships[30].author.display_name | Margje Sinnema |
| authorships[30].countries | NL |
| authorships[30].affiliations[0].institution_ids | https://openalex.org/I34352273 |
| authorships[30].affiliations[0].raw_affiliation_string | Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands |
| authorships[30].institutions[0].id | https://openalex.org/I34352273 |
| authorships[30].institutions[0].ror | https://ror.org/02jz4aj89 |
| authorships[30].institutions[0].type | education |
| authorships[30].institutions[0].lineage | https://openalex.org/I34352273 |
| authorships[30].institutions[0].country_code | NL |
| authorships[30].institutions[0].display_name | Maastricht University |
| authorships[30].author_position | middle |
| authorships[30].raw_author_name | Margje Sinnema |
| authorships[30].is_corresponding | False |
| authorships[30].raw_affiliation_strings | Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands |
| authorships[31].author.id | https://openalex.org/A5071264188 |
| authorships[31].author.orcid | https://orcid.org/0000-0002-0000-2917 |
| authorships[31].author.display_name | Bert B.A. de Vries |
| authorships[31].countries | NL |
| authorships[31].affiliations[0].institution_ids | https://openalex.org/I145872427, https://openalex.org/I2802934949 |
| authorships[31].affiliations[0].raw_affiliation_string | Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands |
| authorships[31].institutions[0].id | https://openalex.org/I2802934949 |
| authorships[31].institutions[0].ror | https://ror.org/05wg1m734 |
| authorships[31].institutions[0].type | healthcare |
| authorships[31].institutions[0].lineage | https://openalex.org/I2802934949 |
| authorships[31].institutions[0].country_code | NL |
| authorships[31].institutions[0].display_name | Radboud University Medical Center |
| authorships[31].institutions[1].id | https://openalex.org/I145872427 |
| authorships[31].institutions[1].ror | https://ror.org/016xsfp80 |
| authorships[31].institutions[1].type | education |
| authorships[31].institutions[1].lineage | https://openalex.org/I145872427 |
| authorships[31].institutions[1].country_code | NL |
| authorships[31].institutions[1].display_name | Radboud University Nijmegen |
| authorships[31].author_position | middle |
| authorships[31].raw_author_name | Bert B.A. De Vries |
| authorships[31].is_corresponding | False |
| authorships[31].raw_affiliation_strings | Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands |
| authorships[32].author.id | https://openalex.org/A5048867599 |
| authorships[32].author.orcid | |
| authorships[32].author.display_name | Erica H. Gerkes |
| authorships[32].countries | NL |
| authorships[32].affiliations[0].institution_ids | https://openalex.org/I1334415907, https://openalex.org/I169381384 |
| authorships[32].affiliations[0].raw_affiliation_string | University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, The Netherlands |
| authorships[32].institutions[0].id | https://openalex.org/I1334415907 |
| authorships[32].institutions[0].ror | https://ror.org/03cv38k47 |
| authorships[32].institutions[0].type | healthcare |
| authorships[32].institutions[0].lineage | https://openalex.org/I1334415907 |
| authorships[32].institutions[0].country_code | NL |
| authorships[32].institutions[0].display_name | University Medical Center Groningen |
| authorships[32].institutions[1].id | https://openalex.org/I169381384 |
| authorships[32].institutions[1].ror | https://ror.org/012p63287 |
| authorships[32].institutions[1].type | education |
| authorships[32].institutions[1].lineage | https://openalex.org/I169381384 |
| authorships[32].institutions[1].country_code | NL |
| authorships[32].institutions[1].display_name | University of Groningen |
| authorships[32].author_position | middle |
| authorships[32].raw_author_name | Erica H. Gerkes |
| authorships[32].is_corresponding | False |
| authorships[32].raw_affiliation_strings | University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, The Netherlands |
| authorships[33].author.id | https://openalex.org/A5016312541 |
| authorships[33].author.orcid | https://orcid.org/0000-0002-0584-4398 |
| authorships[33].author.display_name | Rolph Pfundt |
| authorships[33].countries | NL |
| authorships[33].affiliations[0].institution_ids | https://openalex.org/I145872427, https://openalex.org/I2802934949 |
| authorships[33].affiliations[0].raw_affiliation_string | Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands |
| authorships[33].institutions[0].id | https://openalex.org/I2802934949 |
| authorships[33].institutions[0].ror | https://ror.org/05wg1m734 |
| authorships[33].institutions[0].type | healthcare |
| authorships[33].institutions[0].lineage | https://openalex.org/I2802934949 |
| authorships[33].institutions[0].country_code | NL |
| authorships[33].institutions[0].display_name | Radboud University Medical Center |
| authorships[33].institutions[1].id | https://openalex.org/I145872427 |
| authorships[33].institutions[1].ror | https://ror.org/016xsfp80 |
| authorships[33].institutions[1].type | education |
| authorships[33].institutions[1].lineage | https://openalex.org/I145872427 |
| authorships[33].institutions[1].country_code | NL |
| authorships[33].institutions[1].display_name | Radboud University Nijmegen |
| authorships[33].author_position | middle |
| authorships[33].raw_author_name | Rolph Pfundt |
| authorships[33].is_corresponding | False |
| authorships[33].raw_affiliation_strings | Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands |
| authorships[34].author.id | https://openalex.org/A5073920005 |
| authorships[34].author.orcid | https://orcid.org/0000-0002-7922-7480 |
| authorships[34].author.display_name | Kosuke Izumi |
| authorships[34].countries | US |
| authorships[34].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[34].affiliations[0].raw_affiliation_string | Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA |
| authorships[34].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[34].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[34].institutions[0].type | healthcare |
| authorships[34].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[34].institutions[0].country_code | US |
| authorships[34].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[34].author_position | middle |
| authorships[34].raw_author_name | Kosuke Izumi |
| authorships[34].is_corresponding | False |
| authorships[34].raw_affiliation_strings | Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA |
| authorships[35].author.id | https://openalex.org/A5010801552 |
| authorships[35].author.orcid | https://orcid.org/0000-0003-2442-1128 |
| authorships[35].author.display_name | Ian D. Krantz |
| authorships[35].countries | US |
| authorships[35].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[35].affiliations[0].raw_affiliation_string | Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA |
| authorships[35].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[35].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[35].institutions[0].type | healthcare |
| authorships[35].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[35].institutions[0].country_code | US |
| authorships[35].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[35].author_position | middle |
| authorships[35].raw_author_name | Ian D. Krantz |
| authorships[35].is_corresponding | False |
| authorships[35].raw_affiliation_strings | Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA |
| authorships[36].author.id | https://openalex.org/A5065651874 |
| authorships[36].author.orcid | |
| authorships[36].author.display_name | Zhou L. Xu |
| authorships[36].countries | US |
| authorships[36].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[36].affiliations[0].raw_affiliation_string | Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA |
| authorships[36].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[36].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[36].institutions[0].type | healthcare |
| authorships[36].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[36].institutions[0].country_code | US |
| authorships[36].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[36].author_position | middle |
| authorships[36].raw_author_name | Zhou L. Xu |
| authorships[36].is_corresponding | False |
| authorships[36].raw_affiliation_strings | Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA |
| authorships[37].author.id | https://openalex.org/A5012334998 |
| authorships[37].author.orcid | https://orcid.org/0000-0002-1885-8385 |
| authorships[37].author.display_name | Jill R. Murrell |
| authorships[37].countries | US |
| authorships[37].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[37].affiliations[0].raw_affiliation_string | Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA |
| authorships[37].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[37].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[37].institutions[0].type | healthcare |
| authorships[37].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[37].institutions[0].country_code | US |
| authorships[37].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[37].author_position | middle |
| authorships[37].raw_author_name | Jill R. Murrell |
| authorships[37].is_corresponding | False |
| authorships[37].raw_affiliation_strings | Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA |
| authorships[38].author.id | https://openalex.org/A5016974412 |
| authorships[38].author.orcid | https://orcid.org/0000-0003-2350-6058 |
| authorships[38].author.display_name | Irene Valenzuela |
| authorships[38].countries | ES |
| authorships[38].affiliations[0].institution_ids | https://openalex.org/I4210127641 |
| authorships[38].affiliations[0].raw_affiliation_string | Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain |
| authorships[38].institutions[0].id | https://openalex.org/I4210127641 |
| authorships[38].institutions[0].ror | https://ror.org/03ba28x55 |
| authorships[38].institutions[0].type | healthcare |
| authorships[38].institutions[0].lineage | https://openalex.org/I4210127641 |
| authorships[38].institutions[0].country_code | ES |
| authorships[38].institutions[0].display_name | Vall d'Hebron Hospital Universitari |
| authorships[38].author_position | middle |
| authorships[38].raw_author_name | Irene Valenzuela |
| authorships[38].is_corresponding | False |
| authorships[38].raw_affiliation_strings | Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain |
| authorships[39].author.id | https://openalex.org/A5080191409 |
| authorships[39].author.orcid | https://orcid.org/0000-0003-2104-9332 |
| authorships[39].author.display_name | Ivon Cuscó |
| authorships[39].countries | ES |
| authorships[39].affiliations[0].institution_ids | https://openalex.org/I4210127641 |
| authorships[39].affiliations[0].raw_affiliation_string | Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain |
| authorships[39].affiliations[1].institution_ids | https://openalex.org/I4210111366, https://openalex.org/I4210115082 |
| authorships[39].affiliations[1].raw_affiliation_string | Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain |
| authorships[39].institutions[0].id | https://openalex.org/I4210111366 |
| authorships[39].institutions[0].ror | https://ror.org/01ygm5w19 |
| authorships[39].institutions[0].type | facility |
| authorships[39].institutions[0].lineage | https://openalex.org/I4210111366 |
| authorships[39].institutions[0].country_code | ES |
| authorships[39].institutions[0].display_name | Centre for Biomedical Network Research on Rare Diseases |
| authorships[39].institutions[1].id | https://openalex.org/I4210115082 |
| authorships[39].institutions[1].ror | https://ror.org/02g87qh62 |
| authorships[39].institutions[1].type | facility |
| authorships[39].institutions[1].lineage | https://openalex.org/I2801357902, https://openalex.org/I4210115082, https://openalex.org/I4387152914 |
| authorships[39].institutions[1].country_code | ES |
| authorships[39].institutions[1].display_name | Centro de Investigación Biomédica en Red |
| authorships[39].institutions[2].id | https://openalex.org/I4210127641 |
| authorships[39].institutions[2].ror | https://ror.org/03ba28x55 |
| authorships[39].institutions[2].type | healthcare |
| authorships[39].institutions[2].lineage | https://openalex.org/I4210127641 |
| authorships[39].institutions[2].country_code | ES |
| authorships[39].institutions[2].display_name | Vall d'Hebron Hospital Universitari |
| authorships[39].author_position | middle |
| authorships[39].raw_author_name | Ivon Cusco |
| authorships[39].is_corresponding | False |
| authorships[39].raw_affiliation_strings | Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain, Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain |
| authorships[40].author.id | https://openalex.org/A5053383624 |
| authorships[40].author.orcid | https://orcid.org/0000-0001-5483-7031 |
| authorships[40].author.display_name | Eulàlia Rovira‐Moreno |
| authorships[40].countries | ES |
| authorships[40].affiliations[0].institution_ids | https://openalex.org/I4210127641 |
| authorships[40].affiliations[0].raw_affiliation_string | Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain |
| authorships[40].affiliations[1].institution_ids | https://openalex.org/I4210111366, https://openalex.org/I4210115082 |
| authorships[40].affiliations[1].raw_affiliation_string | Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, 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/I4210115082 |
| authorships[40].institutions[1].ror | https://ror.org/02g87qh62 |
| authorships[40].institutions[1].type | facility |
| authorships[40].institutions[1].lineage | https://openalex.org/I2801357902, https://openalex.org/I4210115082, https://openalex.org/I4387152914 |
| authorships[40].institutions[1].country_code | ES |
| authorships[40].institutions[1].display_name | Centro de Investigación Biomédica en Red |
| authorships[40].institutions[2].id | https://openalex.org/I4210127641 |
| authorships[40].institutions[2].ror | https://ror.org/03ba28x55 |
| authorships[40].institutions[2].type | healthcare |
| authorships[40].institutions[2].lineage | https://openalex.org/I4210127641 |
| authorships[40].institutions[2].country_code | ES |
| authorships[40].institutions[2].display_name | Vall d'Hebron Hospital Universitari |
| authorships[40].author_position | middle |
| authorships[40].raw_author_name | Eulàlia Rovira-Moreno |
| authorships[40].is_corresponding | False |
| authorships[40].raw_affiliation_strings | Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain, Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain |
| authorships[41].author.id | https://openalex.org/A5107930599 |
| authorships[41].author.orcid | https://orcid.org/0000-0002-5046-1919 |
| authorships[41].author.display_name | Yaping Yang |
| authorships[41].affiliations[0].raw_affiliation_string | AiLife Diagnostics, Pearland, TX |
| authorships[41].author_position | middle |
| authorships[41].raw_author_name | Yaping Yang |
| authorships[41].is_corresponding | False |
| authorships[41].raw_affiliation_strings | AiLife Diagnostics, Pearland, TX |
| authorships[42].author.id | https://openalex.org/A5059349405 |
| authorships[42].author.orcid | https://orcid.org/0000-0001-6335-7419 |
| authorships[42].author.display_name | Varoona Bizaoui |
| authorships[42].affiliations[0].raw_affiliation_string | Clinical Genetics and Neurodevelopmental Disorders, Centre Hospitalier de l'Estran, Pontorson, France |
| authorships[42].author_position | middle |
| authorships[42].raw_author_name | Varoona Bizaoui |
| authorships[42].is_corresponding | False |
| authorships[42].raw_affiliation_strings | Clinical Genetics and Neurodevelopmental Disorders, Centre Hospitalier de l'Estran, Pontorson, France |
| authorships[43].author.id | https://openalex.org/A5112900891 |
| authorships[43].author.orcid | |
| authorships[43].author.display_name | Olivier Patat |
| authorships[43].countries | FR |
| authorships[43].affiliations[0].institution_ids | https://openalex.org/I17866349 |
| authorships[43].affiliations[0].raw_affiliation_string | Department of Medical Genetics, Toulouse University Hospital, Toulouse, France |
| authorships[43].institutions[0].id | https://openalex.org/I17866349 |
| authorships[43].institutions[0].ror | https://ror.org/004raaa70 |
| authorships[43].institutions[0].type | education |
| authorships[43].institutions[0].lineage | https://openalex.org/I17866349 |
| authorships[43].institutions[0].country_code | FR |
| authorships[43].institutions[0].display_name | Université Fédérale de Toulouse Midi-Pyrénées |
| authorships[43].author_position | middle |
| authorships[43].raw_author_name | Olivier Patat |
| authorships[43].is_corresponding | False |
| authorships[43].raw_affiliation_strings | Department of Medical Genetics, Toulouse University Hospital, Toulouse, France |
| authorships[44].author.id | https://openalex.org/A5107876768 |
| authorships[44].author.orcid | |
| authorships[44].author.display_name | Laurence Faivre |
| authorships[44].countries | FR |
| authorships[44].affiliations[0].institution_ids | https://openalex.org/I177064439 |
| authorships[44].affiliations[0].raw_affiliation_string | Centre de référence Anomalies du Développement et Syndromes malformatifs, FHU-TRANSLAD, GAD, CHU Dijon et Université de Bourgogne, Dijon, France |
| authorships[44].affiliations[1].institution_ids | https://openalex.org/I154526488, https://openalex.org/I177064439 |
| authorships[44].affiliations[1].raw_affiliation_string | Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France |
| authorships[44].institutions[0].id | https://openalex.org/I154526488 |
| authorships[44].institutions[0].ror | https://ror.org/02vjkv261 |
| authorships[44].institutions[0].type | government |
| authorships[44].institutions[0].lineage | https://openalex.org/I154526488 |
| authorships[44].institutions[0].country_code | FR |
| authorships[44].institutions[0].display_name | Inserm |
| authorships[44].institutions[1].id | https://openalex.org/I177064439 |
| authorships[44].institutions[1].ror | https://ror.org/03k1bsr36 |
| authorships[44].institutions[1].type | education |
| authorships[44].institutions[1].lineage | https://openalex.org/I177064439 |
| authorships[44].institutions[1].country_code | FR |
| authorships[44].institutions[1].display_name | Université de Bourgogne |
| authorships[44].author_position | middle |
| authorships[44].raw_author_name | Laurence Faivre |
| authorships[44].is_corresponding | False |
| authorships[44].raw_affiliation_strings | Centre de référence Anomalies du Développement et Syndromes malformatifs, FHU-TRANSLAD, GAD, CHU Dijon et Université de Bourgogne, Dijon, France, Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France |
| authorships[45].author.id | https://openalex.org/A5015544345 |
| authorships[45].author.orcid | https://orcid.org/0000-0002-3795-9456 |
| authorships[45].author.display_name | Frédéric Tran Mau‐Them |
| authorships[45].countries | FR |
| authorships[45].affiliations[0].institution_ids | https://openalex.org/I4210116240 |
| authorships[45].affiliations[0].raw_affiliation_string | Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France |
| authorships[45].affiliations[1].institution_ids | https://openalex.org/I154526488, https://openalex.org/I177064439 |
| authorships[45].affiliations[1].raw_affiliation_string | Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France |
| authorships[45].institutions[0].id | https://openalex.org/I4210116240 |
| authorships[45].institutions[0].ror | https://ror.org/0377z4z10 |
| authorships[45].institutions[0].type | healthcare |
| authorships[45].institutions[0].lineage | https://openalex.org/I4210116240 |
| authorships[45].institutions[0].country_code | FR |
| authorships[45].institutions[0].display_name | CHU Dijon Bourgogne |
| authorships[45].institutions[1].id | https://openalex.org/I154526488 |
| authorships[45].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[45].institutions[1].type | government |
| authorships[45].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[45].institutions[1].country_code | FR |
| authorships[45].institutions[1].display_name | Inserm |
| authorships[45].institutions[2].id | https://openalex.org/I177064439 |
| authorships[45].institutions[2].ror | https://ror.org/03k1bsr36 |
| authorships[45].institutions[2].type | education |
| authorships[45].institutions[2].lineage | https://openalex.org/I177064439 |
| authorships[45].institutions[2].country_code | FR |
| authorships[45].institutions[2].display_name | Université de Bourgogne |
| authorships[45].author_position | middle |
| authorships[45].raw_author_name | Frederic Tran-Mau-Them |
| authorships[45].is_corresponding | False |
| authorships[45].raw_affiliation_strings | Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France, Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France |
| authorships[46].author.id | https://openalex.org/A5059739660 |
| authorships[46].author.orcid | https://orcid.org/0000-0003-3717-8374 |
| authorships[46].author.display_name | Antonio Vitobello |
| authorships[46].countries | FR |
| authorships[46].affiliations[0].institution_ids | https://openalex.org/I154526488, https://openalex.org/I177064439 |
| authorships[46].affiliations[0].raw_affiliation_string | Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France |
| authorships[46].affiliations[1].institution_ids | https://openalex.org/I4210116240 |
| authorships[46].affiliations[1].raw_affiliation_string | Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France |
| authorships[46].institutions[0].id | https://openalex.org/I4210116240 |
| authorships[46].institutions[0].ror | https://ror.org/0377z4z10 |
| authorships[46].institutions[0].type | healthcare |
| authorships[46].institutions[0].lineage | https://openalex.org/I4210116240 |
| authorships[46].institutions[0].country_code | FR |
| authorships[46].institutions[0].display_name | CHU Dijon Bourgogne |
| authorships[46].institutions[1].id | https://openalex.org/I154526488 |
| authorships[46].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[46].institutions[1].type | government |
| authorships[46].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[46].institutions[1].country_code | FR |
| authorships[46].institutions[1].display_name | Inserm |
| authorships[46].institutions[2].id | https://openalex.org/I177064439 |
| authorships[46].institutions[2].ror | https://ror.org/03k1bsr36 |
| authorships[46].institutions[2].type | education |
| authorships[46].institutions[2].lineage | https://openalex.org/I177064439 |
| authorships[46].institutions[2].country_code | FR |
| authorships[46].institutions[2].display_name | Université de Bourgogne |
| authorships[46].author_position | middle |
| authorships[46].raw_author_name | Antonio Vitobello |
| authorships[46].is_corresponding | False |
| authorships[46].raw_affiliation_strings | Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France, Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France |
| authorships[47].author.id | https://openalex.org/A5077874217 |
| authorships[47].author.orcid | https://orcid.org/0000-0002-8986-8222 |
| authorships[47].author.display_name | Anne‐Sophie Denommé‐Pichon |
| authorships[47].countries | FR |
| authorships[47].affiliations[0].institution_ids | https://openalex.org/I4210116240 |
| authorships[47].affiliations[0].raw_affiliation_string | Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France |
| authorships[47].affiliations[1].institution_ids | https://openalex.org/I154526488, https://openalex.org/I177064439 |
| authorships[47].affiliations[1].raw_affiliation_string | Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France |
| authorships[47].institutions[0].id | https://openalex.org/I4210116240 |
| authorships[47].institutions[0].ror | https://ror.org/0377z4z10 |
| authorships[47].institutions[0].type | healthcare |
| authorships[47].institutions[0].lineage | https://openalex.org/I4210116240 |
| authorships[47].institutions[0].country_code | FR |
| authorships[47].institutions[0].display_name | CHU Dijon Bourgogne |
| authorships[47].institutions[1].id | https://openalex.org/I154526488 |
| authorships[47].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[47].institutions[1].type | government |
| authorships[47].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[47].institutions[1].country_code | FR |
| authorships[47].institutions[1].display_name | Inserm |
| authorships[47].institutions[2].id | https://openalex.org/I177064439 |
| authorships[47].institutions[2].ror | https://ror.org/03k1bsr36 |
| authorships[47].institutions[2].type | education |
| authorships[47].institutions[2].lineage | https://openalex.org/I177064439 |
| authorships[47].institutions[2].country_code | FR |
| authorships[47].institutions[2].display_name | Université de Bourgogne |
| authorships[47].author_position | middle |
| authorships[47].raw_author_name | Anne-Sophie Denommé-Pichon |
| authorships[47].is_corresponding | False |
| authorships[47].raw_affiliation_strings | Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France, Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France |
| authorships[48].author.id | https://openalex.org/A5033091393 |
| authorships[48].author.orcid | https://orcid.org/0000-0001-7098-6520 |
| authorships[48].author.display_name | Christophe Philippe |
| authorships[48].countries | FR |
| authorships[48].affiliations[0].institution_ids | https://openalex.org/I4210116240 |
| authorships[48].affiliations[0].raw_affiliation_string | Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France |
| authorships[48].affiliations[1].institution_ids | https://openalex.org/I154526488, https://openalex.org/I177064439 |
| authorships[48].affiliations[1].raw_affiliation_string | Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France |
| authorships[48].institutions[0].id | https://openalex.org/I4210116240 |
| authorships[48].institutions[0].ror | https://ror.org/0377z4z10 |
| authorships[48].institutions[0].type | healthcare |
| authorships[48].institutions[0].lineage | https://openalex.org/I4210116240 |
| authorships[48].institutions[0].country_code | FR |
| authorships[48].institutions[0].display_name | CHU Dijon Bourgogne |
| authorships[48].institutions[1].id | https://openalex.org/I154526488 |
| authorships[48].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[48].institutions[1].type | government |
| authorships[48].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[48].institutions[1].country_code | FR |
| authorships[48].institutions[1].display_name | Inserm |
| authorships[48].institutions[2].id | https://openalex.org/I177064439 |
| authorships[48].institutions[2].ror | https://ror.org/03k1bsr36 |
| authorships[48].institutions[2].type | education |
| authorships[48].institutions[2].lineage | https://openalex.org/I177064439 |
| authorships[48].institutions[2].country_code | FR |
| authorships[48].institutions[2].display_name | Université de Bourgogne |
| authorships[48].author_position | middle |
| authorships[48].raw_author_name | Christophe Philippe |
| authorships[48].is_corresponding | False |
| authorships[48].raw_affiliation_strings | Inserm UMR1231, GAD, Université de Bourgogne, Dijon, France, Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France |
| authorships[49].author.id | https://openalex.org/A5086740139 |
| authorships[49].author.orcid | https://orcid.org/0000-0003-0095-1319 |
| authorships[49].author.display_name | Stéphane Bézieau |
| authorships[49].countries | FR |
| authorships[49].affiliations[0].institution_ids | https://openalex.org/I3019204325 |
| authorships[49].affiliations[0].raw_affiliation_string | Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France |
| authorships[49].affiliations[1].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[49].affiliations[1].raw_affiliation_string | Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France |
| authorships[49].institutions[0].id | https://openalex.org/I3019204325 |
| authorships[49].institutions[0].ror | https://ror.org/05c1qsg97 |
| authorships[49].institutions[0].type | healthcare |
| authorships[49].institutions[0].lineage | https://openalex.org/I3019204325 |
| authorships[49].institutions[0].country_code | FR |
| authorships[49].institutions[0].display_name | Centre Hospitalier Universitaire de Nantes |
| authorships[49].institutions[1].id | https://openalex.org/I1294671590 |
| authorships[49].institutions[1].ror | https://ror.org/02feahw73 |
| authorships[49].institutions[1].type | government |
| authorships[49].institutions[1].lineage | https://openalex.org/I1294671590 |
| authorships[49].institutions[1].country_code | FR |
| authorships[49].institutions[1].display_name | Centre National de la Recherche Scientifique |
| authorships[49].institutions[2].id | https://openalex.org/I154526488 |
| authorships[49].institutions[2].ror | https://ror.org/02vjkv261 |
| authorships[49].institutions[2].type | government |
| authorships[49].institutions[2].lineage | https://openalex.org/I154526488 |
| authorships[49].institutions[2].country_code | FR |
| authorships[49].institutions[2].display_name | Inserm |
| authorships[49].institutions[3].id | https://openalex.org/I4210144168 |
| authorships[49].institutions[3].ror | https://ror.org/049kkt456 |
| authorships[49].institutions[3].type | facility |
| authorships[49].institutions[3].lineage | https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210096427, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| authorships[49].institutions[3].country_code | FR |
| authorships[49].institutions[3].display_name | Institut du Thorax |
| authorships[49].institutions[4].id | https://openalex.org/I97188460 |
| authorships[49].institutions[4].ror | https://ror.org/03gnr7b55 |
| authorships[49].institutions[4].type | education |
| authorships[49].institutions[4].lineage | https://openalex.org/I97188460 |
| authorships[49].institutions[4].country_code | FR |
| authorships[49].institutions[4].display_name | Nantes Université |
| authorships[49].author_position | middle |
| authorships[49].raw_author_name | Stéphane Bezieau |
| authorships[49].is_corresponding | False |
| authorships[49].raw_affiliation_strings | Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France, Université de Nantes, Inserm UMR 1087 / CNRS UMR 6291, Institut du thorax, Nantes, France |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | http://www.gimjournal.org/article/S1098360022007407/pdf |
| open_access.oa_status | bronze |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder |
| has_fulltext | True |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T10604 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9997000098228455 |
| primary_topic.domain.id | https://openalex.org/domains/1 |
| primary_topic.domain.display_name | Life Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/1312 |
| primary_topic.subfield.display_name | Molecular Biology |
| primary_topic.display_name | RNA Research and Splicing |
| related_works | https://openalex.org/W2345994186, https://openalex.org/W4379377201, https://openalex.org/W4379377291, https://openalex.org/W4380185352, https://openalex.org/W2366111644, https://openalex.org/W3003723200, https://openalex.org/W4405809601, https://openalex.org/W2905094547, https://openalex.org/W3178601319, https://openalex.org/W2565951715 |
| cited_by_count | 41 |
| counts_by_year[0].year | 2025 |
| counts_by_year[0].cited_by_count | 20 |
| counts_by_year[1].year | 2024 |
| counts_by_year[1].cited_by_count | 7 |
| counts_by_year[2].year | 2023 |
| counts_by_year[2].cited_by_count | 13 |
| counts_by_year[3].year | 2022 |
| counts_by_year[3].cited_by_count | 1 |
| locations_count | 6 |
| best_oa_location.id | doi:10.1016/j.gim.2022.04.011 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S187186932 |
| best_oa_location.source.issn | 1098-3600, 1530-0366 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | False |
| best_oa_location.source.issn_l | 1098-3600 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | Genetics in Medicine |
| best_oa_location.source.host_organization | https://openalex.org/P4310320990 |
| best_oa_location.source.host_organization_name | Elsevier BV |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310320990 |
| best_oa_location.source.host_organization_lineage_names | Elsevier BV |
| best_oa_location.license | |
| best_oa_location.pdf_url | http://www.gimjournal.org/article/S1098360022007407/pdf |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | Genetics in Medicine |
| best_oa_location.landing_page_url | https://doi.org/10.1016/j.gim.2022.04.011 |
| primary_location.id | doi:10.1016/j.gim.2022.04.011 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S187186932 |
| primary_location.source.issn | 1098-3600, 1530-0366 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | 1098-3600 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | Genetics in Medicine |
| primary_location.source.host_organization | https://openalex.org/P4310320990 |
| primary_location.source.host_organization_name | Elsevier BV |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310320990 |
| primary_location.source.host_organization_lineage_names | Elsevier BV |
| primary_location.license | |
| primary_location.pdf_url | http://www.gimjournal.org/article/S1098360022007407/pdf |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | Genetics in Medicine |
| primary_location.landing_page_url | https://doi.org/10.1016/j.gim.2022.04.011 |
| publication_date | 2022-05-14 |
| publication_year | 2022 |
| referenced_works | https://openalex.org/W2143350291, https://openalex.org/W2135743020, https://openalex.org/W2023549679, https://openalex.org/W2124646855, https://openalex.org/W2162106282, https://openalex.org/W2152723838, https://openalex.org/W1984923003, https://openalex.org/W1967151948, https://openalex.org/W3093292403, https://openalex.org/W2592672373, https://openalex.org/W3022691030, https://openalex.org/W2508473622, https://openalex.org/W2944487061, https://openalex.org/W2126240498, https://openalex.org/W2064746853, https://openalex.org/W2514190725, https://openalex.org/W3094115889, https://openalex.org/W2958572967, https://openalex.org/W2571159221 |
| referenced_works_count | 19 |
| abstract_inverted_index | |
| cited_by_percentile_year.max | 100 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5107656819, https://openalex.org/A5043305705 |
| countries_distinct_count | 8 |
| institutions_distinct_count | 51 |
| corresponding_institution_ids | https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I3019204325, https://openalex.org/I4210144168, https://openalex.org/I97188460 |
| citation_normalized_percentile.value | 0.94748195 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |