HACE1 deficiency leads to structural and functional neurodevelopmental defects Article Swipe
Vanja Nagy
,
Ronja Hollstein
,
Tsung‐Pin Pai
,
Michel K. Herde
,
Pisanu Buphamalai
,
Paul Moeseneder
,
Ewelina M. Lenartowicz
,
Anoop Kavirayani
,
Georg Christoph Korenke
,
I. Kozieradzki
,
Roberto Nitsch
,
Ana Cicvaric
,
Francisco J. Monje
,
Matthew A. Deardorff
,
Emma Bedoukian
,
Yun Li
,
Gökhan Yigit
,
Jörg Menche
,
E. Ferda Perçin
,
Bernd Wollnik
,
Christian Henneberger
,
Frank J. Kaiser
,
Josef Penninger
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1212/nxg.0000000000000330
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1212/nxg.0000000000000330
Our results provide a first animal model to dissect this complex human disease syndrome, establishing the first causal proof that a HACE1 deficiency results in decreased synapse number and structural and behavioral neuropathologic features that resemble SPPRS patients.
Related Topics
Concepts
Mutation
Biology
Agenesis of the corpus callosum
Exome sequencing
Hereditary spastic paraplegia
Neuroscience
Phenotype
Cell biology
Genetics
Chemistry
Corpus callosum
Gene
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1212/nxg.0000000000000330
- https://ng.neurology.org/content/nng/5/3/e330.full.pdf
- OA Status
- gold
- Cited By
- 34
- References
- 41
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2923638988
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W2923638988Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1212/nxg.0000000000000330Digital Object Identifier
- Title
-
HACE1 deficiency leads to structural and functional neurodevelopmental defectsWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2019Year of publication
- Publication date
-
2019-05-01Full publication date if available
- Authors
-
Vanja Nagy, Ronja Hollstein, Tsung‐Pin Pai, Michel K. Herde, Pisanu Buphamalai, Paul Moeseneder, Ewelina M. Lenartowicz, Anoop Kavirayani, Georg Christoph Korenke, I. Kozieradzki, Roberto Nitsch, Ana Cicvaric, Francisco J. Monje, Matthew A. Deardorff, Emma Bedoukian, Yun Li, Gökhan Yigit, Jörg Menche, E. Ferda Perçin, Bernd Wollnik, Christian Henneberger, Frank J. Kaiser, Josef PenningerList of authors in order
- Landing page
-
https://doi.org/10.1212/nxg.0000000000000330Publisher landing page
- PDF URL
-
https://ng.neurology.org/content/nng/5/3/e330.full.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://ng.neurology.org/content/nng/5/3/e330.full.pdfDirect OA link when available
- Concepts
-
Mutation, Biology, Agenesis of the corpus callosum, Exome sequencing, Hereditary spastic paraplegia, Neuroscience, Phenotype, Cell biology, Genetics, Chemistry, Corpus callosum, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
34Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 9, 2023: 4, 2022: 11, 2021: 5Per-year citation counts (last 5 years)
- References (count)
-
41Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W2923638988 |
|---|---|
| doi | https://doi.org/10.1212/nxg.0000000000000330 |
| ids.doi | https://doi.org/10.1212/nxg.0000000000000330 |
| ids.mag | 2923638988 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/31321300 |
| ids.openalex | https://openalex.org/W2923638988 |
| fwci | 3.55250503 |
| type | article |
| title | HACE1 deficiency leads to structural and functional neurodevelopmental defects |
| biblio.issue | 3 |
| biblio.volume | 5 |
| biblio.last_page | e330 |
| biblio.first_page | e330 |
| topics[0].id | https://openalex.org/T11772 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9998999834060669 |
| topics[0].domain.id | https://openalex.org/domains/1 |
| topics[0].domain.display_name | Life Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/1311 |
| topics[0].subfield.display_name | Genetics |
| topics[0].display_name | Genetics and Neurodevelopmental Disorders |
| topics[1].id | https://openalex.org/T10106 |
| topics[1].field.id | https://openalex.org/fields/28 |
| topics[1].field.display_name | Neuroscience |
| topics[1].score | 0.9965999722480774 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/2805 |
| topics[1].subfield.display_name | Cognitive Neuroscience |
| topics[1].display_name | Autism Spectrum Disorder Research |
| topics[2].id | https://openalex.org/T12400 |
| topics[2].field.id | https://openalex.org/fields/27 |
| topics[2].field.display_name | Medicine |
| topics[2].score | 0.9876000285148621 |
| topics[2].domain.id | https://openalex.org/domains/4 |
| topics[2].domain.display_name | Health Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/2716 |
| topics[2].subfield.display_name | Genetics |
| topics[2].display_name | Neurogenetic and Muscular Disorders Research |
| is_xpac | False |
| apc_list.value | 3300 |
| apc_list.currency | USD |
| apc_list.value_usd | 3300 |
| apc_paid.value | 3300 |
| apc_paid.currency | USD |
| apc_paid.value_usd | 3300 |
| concepts[0].id | https://openalex.org/C501734568 |
| concepts[0].level | 3 |
| concepts[0].score | 0.5358169674873352 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q42918 |
| concepts[0].display_name | Mutation |
| concepts[1].id | https://openalex.org/C86803240 |
| concepts[1].level | 0 |
| concepts[1].score | 0.5026850700378418 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[1].display_name | Biology |
| concepts[2].id | https://openalex.org/C2780787877 |
| concepts[2].level | 3 |
| concepts[2].score | 0.4394736588001251 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q1135124 |
| concepts[2].display_name | Agenesis of the corpus callosum |
| concepts[3].id | https://openalex.org/C16671776 |
| concepts[3].level | 4 |
| concepts[3].score | 0.42957448959350586 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q5420592 |
| concepts[3].display_name | Exome sequencing |
| concepts[4].id | https://openalex.org/C2780395223 |
| concepts[4].level | 4 |
| concepts[4].score | 0.4209449887275696 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q657516 |
| concepts[4].display_name | Hereditary spastic paraplegia |
| concepts[5].id | https://openalex.org/C169760540 |
| concepts[5].level | 1 |
| concepts[5].score | 0.3846525251865387 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q207011 |
| concepts[5].display_name | Neuroscience |
| concepts[6].id | https://openalex.org/C127716648 |
| concepts[6].level | 3 |
| concepts[6].score | 0.38207459449768066 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q104053 |
| concepts[6].display_name | Phenotype |
| concepts[7].id | https://openalex.org/C95444343 |
| concepts[7].level | 1 |
| concepts[7].score | 0.38090312480926514 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q7141 |
| concepts[7].display_name | Cell biology |
| concepts[8].id | https://openalex.org/C54355233 |
| concepts[8].level | 1 |
| concepts[8].score | 0.33026257157325745 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[8].display_name | Genetics |
| concepts[9].id | https://openalex.org/C185592680 |
| concepts[9].level | 0 |
| concepts[9].score | 0.3200143575668335 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q2329 |
| concepts[9].display_name | Chemistry |
| concepts[10].id | https://openalex.org/C2778183499 |
| concepts[10].level | 2 |
| concepts[10].score | 0.1681033968925476 |
| concepts[10].wikidata | https://www.wikidata.org/wiki/Q223851 |
| concepts[10].display_name | Corpus callosum |
| concepts[11].id | https://openalex.org/C104317684 |
| concepts[11].level | 2 |
| concepts[11].score | 0.10094413161277771 |
| concepts[11].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[11].display_name | Gene |
| keywords[0].id | https://openalex.org/keywords/mutation |
| keywords[0].score | 0.5358169674873352 |
| keywords[0].display_name | Mutation |
| keywords[1].id | https://openalex.org/keywords/biology |
| keywords[1].score | 0.5026850700378418 |
| keywords[1].display_name | Biology |
| keywords[2].id | https://openalex.org/keywords/agenesis-of-the-corpus-callosum |
| keywords[2].score | 0.4394736588001251 |
| keywords[2].display_name | Agenesis of the corpus callosum |
| keywords[3].id | https://openalex.org/keywords/exome-sequencing |
| keywords[3].score | 0.42957448959350586 |
| keywords[3].display_name | Exome sequencing |
| keywords[4].id | https://openalex.org/keywords/hereditary-spastic-paraplegia |
| keywords[4].score | 0.4209449887275696 |
| keywords[4].display_name | Hereditary spastic paraplegia |
| keywords[5].id | https://openalex.org/keywords/neuroscience |
| keywords[5].score | 0.3846525251865387 |
| keywords[5].display_name | Neuroscience |
| keywords[6].id | https://openalex.org/keywords/phenotype |
| keywords[6].score | 0.38207459449768066 |
| keywords[6].display_name | Phenotype |
| keywords[7].id | https://openalex.org/keywords/cell-biology |
| keywords[7].score | 0.38090312480926514 |
| keywords[7].display_name | Cell biology |
| keywords[8].id | https://openalex.org/keywords/genetics |
| keywords[8].score | 0.33026257157325745 |
| keywords[8].display_name | Genetics |
| keywords[9].id | https://openalex.org/keywords/chemistry |
| keywords[9].score | 0.3200143575668335 |
| keywords[9].display_name | Chemistry |
| keywords[10].id | https://openalex.org/keywords/corpus-callosum |
| keywords[10].score | 0.1681033968925476 |
| keywords[10].display_name | Corpus callosum |
| keywords[11].id | https://openalex.org/keywords/gene |
| keywords[11].score | 0.10094413161277771 |
| keywords[11].display_name | Gene |
| language | en |
| locations[0].id | doi:10.1212/nxg.0000000000000330 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S2764805357 |
| locations[0].source.issn | 2376-7839 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | True |
| locations[0].source.issn_l | 2376-7839 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | True |
| locations[0].source.display_name | Neurology Genetics |
| locations[0].source.host_organization | https://openalex.org/P4310318547 |
| locations[0].source.host_organization_name | Wolters Kluwer |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310318547 |
| locations[0].license | cc-by |
| locations[0].pdf_url | https://ng.neurology.org/content/nng/5/3/e330.full.pdf |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | https://openalex.org/licenses/cc-by |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | Neurology Genetics |
| locations[0].landing_page_url | https://doi.org/10.1212/nxg.0000000000000330 |
| locations[1].id | pmid:31321300 |
| 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 | Neurology. Genetics |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/31321300 |
| locations[2].id | pmh:oai:europepmc.org:5593846 |
| locations[2].is_oa | True |
| locations[2].source.id | https://openalex.org/S4306400806 |
| 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 | Europe PMC (PubMed Central) |
| locations[2].source.host_organization | https://openalex.org/I1303153112 |
| locations[2].source.host_organization_name | European Bioinformatics Institute |
| locations[2].source.host_organization_lineage | https://openalex.org/I1303153112 |
| locations[2].license | other-oa |
| locations[2].pdf_url | |
| locations[2].version | submittedVersion |
| locations[2].raw_type | Text |
| locations[2].license_id | https://openalex.org/licenses/other-oa |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | |
| locations[2].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/6561753 |
| locations[3].id | pmh:oai:publications.goettingen-research-online.de:2/136626 |
| locations[3].is_oa | True |
| locations[3].source | |
| locations[3].license | other-oa |
| locations[3].pdf_url | |
| locations[3].version | submittedVersion |
| locations[3].raw_type | info:eu-repo/semantics/article |
| locations[3].license_id | https://openalex.org/licenses/other-oa |
| locations[3].is_accepted | False |
| locations[3].is_published | False |
| locations[3].raw_source_name | |
| locations[3].landing_page_url | https://resolver.sub.uni-goettingen.de/purl?gro-2/136626 |
| locations[4].id | pmh:oai:publications.goettingen-research-online.de:2/77644 |
| locations[4].is_oa | True |
| locations[4].source | |
| locations[4].license | cc-by |
| locations[4].pdf_url | |
| locations[4].version | submittedVersion |
| locations[4].raw_type | journal_article |
| locations[4].license_id | https://openalex.org/licenses/cc-by |
| locations[4].is_accepted | False |
| locations[4].is_published | False |
| locations[4].raw_source_name | |
| locations[4].landing_page_url | https://resolver.sub.uni-goettingen.de/purl?gs-1/16714 |
| locations[5].id | pmh:oai:goescholar:1/16714 |
| locations[5].is_oa | True |
| locations[5].source.id | https://openalex.org/S4306401634 |
| 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 | GoeScholar The Publication Server of the Georg-August-Universität Göttingen (Georg-August-Universität Göttingen) |
| locations[5].source.host_organization | https://openalex.org/I4210122495 |
| locations[5].source.host_organization_name | Asklepios Klinik St. Georg |
| locations[5].source.host_organization_lineage | https://openalex.org/I4210122495 |
| locations[5].license | cc-by |
| locations[5].pdf_url | |
| locations[5].version | submittedVersion |
| locations[5].raw_type | journalArticle |
| locations[5].license_id | https://openalex.org/licenses/cc-by |
| locations[5].is_accepted | False |
| locations[5].is_published | False |
| locations[5].raw_source_name | |
| locations[5].landing_page_url | http://resolver.sub.uni-goettingen.de/purl?gs-1/16714 |
| indexed_in | crossref, doaj, pubmed |
| authorships[0].author.id | https://openalex.org/A5006228964 |
| authorships[0].author.orcid | https://orcid.org/0000-0002-9521-4794 |
| authorships[0].author.display_name | Vanja Nagy |
| authorships[0].countries | AT, CA |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[0].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[0].institutions[0].id | https://openalex.org/I138211613 |
| authorships[0].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[0].institutions[0].type | government |
| authorships[0].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[0].institutions[0].country_code | AT |
| authorships[0].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[0].institutions[1].id | https://openalex.org/I125523173 |
| authorships[0].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[0].institutions[1].type | facility |
| authorships[0].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[0].institutions[1].country_code | AT |
| authorships[0].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[0].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[0].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[0].institutions[2].type | facility |
| authorships[0].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[0].institutions[2].country_code | AT |
| authorships[0].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[0].institutions[3].id | https://openalex.org/I141945490 |
| authorships[0].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[0].institutions[3].type | education |
| authorships[0].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[0].institutions[3].country_code | CA |
| authorships[0].institutions[3].display_name | University of British Columbia |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Vanja Nagy |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[1].author.id | https://openalex.org/A5090348177 |
| authorships[1].author.orcid | https://orcid.org/0000-0003-0571-9690 |
| authorships[1].author.display_name | Ronja Hollstein |
| authorships[1].countries | AT, CA |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[1].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[1].institutions[0].id | https://openalex.org/I138211613 |
| authorships[1].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[1].institutions[0].type | government |
| authorships[1].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[1].institutions[0].country_code | AT |
| authorships[1].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[1].institutions[1].id | https://openalex.org/I125523173 |
| authorships[1].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[1].institutions[1].type | facility |
| authorships[1].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[1].institutions[1].country_code | AT |
| authorships[1].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[1].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[1].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[1].institutions[2].type | facility |
| authorships[1].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[1].institutions[2].country_code | AT |
| authorships[1].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[1].institutions[3].id | https://openalex.org/I141945490 |
| authorships[1].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[1].institutions[3].type | education |
| authorships[1].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[1].institutions[3].country_code | CA |
| authorships[1].institutions[3].display_name | University of British Columbia |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Ronja Hollstein |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[2].author.id | https://openalex.org/A5057305387 |
| authorships[2].author.orcid | |
| authorships[2].author.display_name | Tsung‐Pin Pai |
| authorships[2].countries | AT, CA |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[2].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[2].institutions[0].id | https://openalex.org/I138211613 |
| authorships[2].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[2].institutions[0].type | government |
| authorships[2].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[2].institutions[0].country_code | AT |
| authorships[2].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[2].institutions[1].id | https://openalex.org/I125523173 |
| authorships[2].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[2].institutions[1].type | facility |
| authorships[2].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[2].institutions[1].country_code | AT |
| authorships[2].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[2].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[2].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[2].institutions[2].type | facility |
| authorships[2].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[2].institutions[2].country_code | AT |
| authorships[2].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[2].institutions[3].id | https://openalex.org/I141945490 |
| authorships[2].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[2].institutions[3].type | education |
| authorships[2].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[2].institutions[3].country_code | CA |
| authorships[2].institutions[3].display_name | University of British Columbia |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Tsung-Pin Pai |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[3].author.id | https://openalex.org/A5077665172 |
| authorships[3].author.orcid | https://orcid.org/0000-0002-2324-2083 |
| authorships[3].author.display_name | Michel K. Herde |
| authorships[3].countries | AT, CA |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[3].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[3].institutions[0].id | https://openalex.org/I138211613 |
| authorships[3].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[3].institutions[0].type | government |
| authorships[3].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[3].institutions[0].country_code | AT |
| authorships[3].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[3].institutions[1].id | https://openalex.org/I125523173 |
| authorships[3].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[3].institutions[1].type | facility |
| authorships[3].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[3].institutions[1].country_code | AT |
| authorships[3].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[3].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[3].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[3].institutions[2].type | facility |
| authorships[3].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[3].institutions[2].country_code | AT |
| authorships[3].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[3].institutions[3].id | https://openalex.org/I141945490 |
| authorships[3].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[3].institutions[3].type | education |
| authorships[3].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[3].institutions[3].country_code | CA |
| authorships[3].institutions[3].display_name | University of British Columbia |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Michel K. Herde |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[4].author.id | https://openalex.org/A5082197961 |
| authorships[4].author.orcid | https://orcid.org/0000-0002-9024-4193 |
| authorships[4].author.display_name | Pisanu Buphamalai |
| authorships[4].countries | AT, CA |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[4].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[4].institutions[0].id | https://openalex.org/I138211613 |
| authorships[4].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[4].institutions[0].type | government |
| authorships[4].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[4].institutions[0].country_code | AT |
| authorships[4].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[4].institutions[1].id | https://openalex.org/I125523173 |
| authorships[4].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[4].institutions[1].type | facility |
| authorships[4].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[4].institutions[1].country_code | AT |
| authorships[4].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[4].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[4].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[4].institutions[2].type | facility |
| authorships[4].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[4].institutions[2].country_code | AT |
| authorships[4].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[4].institutions[3].id | https://openalex.org/I141945490 |
| authorships[4].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[4].institutions[3].type | education |
| authorships[4].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[4].institutions[3].country_code | CA |
| authorships[4].institutions[3].display_name | University of British Columbia |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Pisanu Buphamalai |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[5].author.id | https://openalex.org/A5079396076 |
| authorships[5].author.orcid | |
| authorships[5].author.display_name | Paul Moeseneder |
| authorships[5].countries | AT, CA |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[5].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[5].institutions[0].id | https://openalex.org/I138211613 |
| authorships[5].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[5].institutions[0].type | government |
| authorships[5].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[5].institutions[0].country_code | AT |
| authorships[5].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[5].institutions[1].id | https://openalex.org/I125523173 |
| authorships[5].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[5].institutions[1].type | facility |
| authorships[5].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[5].institutions[1].country_code | AT |
| authorships[5].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[5].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[5].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[5].institutions[2].type | facility |
| authorships[5].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[5].institutions[2].country_code | AT |
| authorships[5].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[5].institutions[3].id | https://openalex.org/I141945490 |
| authorships[5].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[5].institutions[3].type | education |
| authorships[5].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[5].institutions[3].country_code | CA |
| authorships[5].institutions[3].display_name | University of British Columbia |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Paul Moeseneder |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[6].author.id | https://openalex.org/A5085643987 |
| authorships[6].author.orcid | |
| authorships[6].author.display_name | Ewelina M. Lenartowicz |
| authorships[6].countries | AT, CA |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[6].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[6].institutions[0].id | https://openalex.org/I138211613 |
| authorships[6].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[6].institutions[0].type | government |
| authorships[6].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[6].institutions[0].country_code | AT |
| authorships[6].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[6].institutions[1].id | https://openalex.org/I125523173 |
| authorships[6].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[6].institutions[1].type | facility |
| authorships[6].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[6].institutions[1].country_code | AT |
| authorships[6].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[6].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[6].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[6].institutions[2].type | facility |
| authorships[6].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[6].institutions[2].country_code | AT |
| authorships[6].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[6].institutions[3].id | https://openalex.org/I141945490 |
| authorships[6].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[6].institutions[3].type | education |
| authorships[6].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[6].institutions[3].country_code | CA |
| authorships[6].institutions[3].display_name | University of British Columbia |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Ewelina Lenartowicz |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[7].author.id | https://openalex.org/A5032969823 |
| authorships[7].author.orcid | https://orcid.org/0000-0003-3874-3101 |
| authorships[7].author.display_name | Anoop Kavirayani |
| authorships[7].countries | AT, CA |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[7].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[7].institutions[0].id | https://openalex.org/I138211613 |
| authorships[7].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[7].institutions[0].type | government |
| authorships[7].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[7].institutions[0].country_code | AT |
| authorships[7].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[7].institutions[1].id | https://openalex.org/I125523173 |
| authorships[7].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[7].institutions[1].type | facility |
| authorships[7].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[7].institutions[1].country_code | AT |
| authorships[7].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[7].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[7].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[7].institutions[2].type | facility |
| authorships[7].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[7].institutions[2].country_code | AT |
| authorships[7].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[7].institutions[3].id | https://openalex.org/I141945490 |
| authorships[7].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[7].institutions[3].type | education |
| authorships[7].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[7].institutions[3].country_code | CA |
| authorships[7].institutions[3].display_name | University of British Columbia |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Anoop Kavirayani |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[8].author.id | https://openalex.org/A5110942562 |
| authorships[8].author.orcid | |
| authorships[8].author.display_name | Georg Christoph Korenke |
| authorships[8].countries | AT, CA |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[8].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[8].institutions[0].id | https://openalex.org/I138211613 |
| authorships[8].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[8].institutions[0].type | government |
| authorships[8].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[8].institutions[0].country_code | AT |
| authorships[8].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[8].institutions[1].id | https://openalex.org/I125523173 |
| authorships[8].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[8].institutions[1].type | facility |
| authorships[8].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[8].institutions[1].country_code | AT |
| authorships[8].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[8].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[8].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[8].institutions[2].type | facility |
| authorships[8].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[8].institutions[2].country_code | AT |
| authorships[8].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[8].institutions[3].id | https://openalex.org/I141945490 |
| authorships[8].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[8].institutions[3].type | education |
| authorships[8].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[8].institutions[3].country_code | CA |
| authorships[8].institutions[3].display_name | University of British Columbia |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Georg Christoph Korenke |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[9].author.id | https://openalex.org/A5065806351 |
| authorships[9].author.orcid | https://orcid.org/0000-0001-8189-3346 |
| authorships[9].author.display_name | I. Kozieradzki |
| authorships[9].countries | AT, CA |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[9].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[9].institutions[0].id | https://openalex.org/I138211613 |
| authorships[9].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[9].institutions[0].type | government |
| authorships[9].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[9].institutions[0].country_code | AT |
| authorships[9].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[9].institutions[1].id | https://openalex.org/I125523173 |
| authorships[9].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[9].institutions[1].type | facility |
| authorships[9].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[9].institutions[1].country_code | AT |
| authorships[9].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[9].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[9].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[9].institutions[2].type | facility |
| authorships[9].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[9].institutions[2].country_code | AT |
| authorships[9].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[9].institutions[3].id | https://openalex.org/I141945490 |
| authorships[9].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[9].institutions[3].type | education |
| authorships[9].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[9].institutions[3].country_code | CA |
| authorships[9].institutions[3].display_name | University of British Columbia |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Ivona Kozieradzki |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[10].author.id | https://openalex.org/A5005057918 |
| authorships[10].author.orcid | https://orcid.org/0000-0001-8766-6267 |
| authorships[10].author.display_name | Roberto Nitsch |
| authorships[10].countries | AT, CA |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[10].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[10].institutions[0].id | https://openalex.org/I138211613 |
| authorships[10].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[10].institutions[0].type | government |
| authorships[10].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[10].institutions[0].country_code | AT |
| authorships[10].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[10].institutions[1].id | https://openalex.org/I125523173 |
| authorships[10].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[10].institutions[1].type | facility |
| authorships[10].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[10].institutions[1].country_code | AT |
| authorships[10].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[10].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[10].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[10].institutions[2].type | facility |
| authorships[10].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[10].institutions[2].country_code | AT |
| authorships[10].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[10].institutions[3].id | https://openalex.org/I141945490 |
| authorships[10].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[10].institutions[3].type | education |
| authorships[10].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[10].institutions[3].country_code | CA |
| authorships[10].institutions[3].display_name | University of British Columbia |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Roberto Nitsch |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[11].author.id | https://openalex.org/A5019182247 |
| authorships[11].author.orcid | https://orcid.org/0000-0002-3560-4491 |
| authorships[11].author.display_name | Ana Cicvaric |
| authorships[11].countries | AT, CA |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[11].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[11].institutions[0].id | https://openalex.org/I138211613 |
| authorships[11].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[11].institutions[0].type | government |
| authorships[11].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[11].institutions[0].country_code | AT |
| authorships[11].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[11].institutions[1].id | https://openalex.org/I125523173 |
| authorships[11].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[11].institutions[1].type | facility |
| authorships[11].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[11].institutions[1].country_code | AT |
| authorships[11].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[11].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[11].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[11].institutions[2].type | facility |
| authorships[11].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[11].institutions[2].country_code | AT |
| authorships[11].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[11].institutions[3].id | https://openalex.org/I141945490 |
| authorships[11].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[11].institutions[3].type | education |
| authorships[11].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[11].institutions[3].country_code | CA |
| authorships[11].institutions[3].display_name | University of British Columbia |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Ana Cicvaric |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[12].author.id | https://openalex.org/A5056830056 |
| authorships[12].author.orcid | https://orcid.org/0000-0002-6496-0030 |
| authorships[12].author.display_name | Francisco J. Monje |
| authorships[12].countries | AT, CA |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[12].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[12].institutions[0].id | https://openalex.org/I138211613 |
| authorships[12].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[12].institutions[0].type | government |
| authorships[12].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[12].institutions[0].country_code | AT |
| authorships[12].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[12].institutions[1].id | https://openalex.org/I125523173 |
| authorships[12].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[12].institutions[1].type | facility |
| authorships[12].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[12].institutions[1].country_code | AT |
| authorships[12].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[12].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[12].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[12].institutions[2].type | facility |
| authorships[12].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[12].institutions[2].country_code | AT |
| authorships[12].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[12].institutions[3].id | https://openalex.org/I141945490 |
| authorships[12].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[12].institutions[3].type | education |
| authorships[12].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[12].institutions[3].country_code | CA |
| authorships[12].institutions[3].display_name | University of British Columbia |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | Francisco J. Monje Quiroga |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[13].author.id | https://openalex.org/A5046025488 |
| authorships[13].author.orcid | https://orcid.org/0000-0002-1542-1305 |
| authorships[13].author.display_name | Matthew A. Deardorff |
| authorships[13].countries | AT, CA |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[13].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[13].institutions[0].id | https://openalex.org/I138211613 |
| authorships[13].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[13].institutions[0].type | government |
| authorships[13].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[13].institutions[0].country_code | AT |
| authorships[13].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[13].institutions[1].id | https://openalex.org/I125523173 |
| authorships[13].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[13].institutions[1].type | facility |
| authorships[13].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[13].institutions[1].country_code | AT |
| authorships[13].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[13].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[13].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[13].institutions[2].type | facility |
| authorships[13].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[13].institutions[2].country_code | AT |
| authorships[13].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[13].institutions[3].id | https://openalex.org/I141945490 |
| authorships[13].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[13].institutions[3].type | education |
| authorships[13].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[13].institutions[3].country_code | CA |
| authorships[13].institutions[3].display_name | University of British Columbia |
| authorships[13].author_position | middle |
| authorships[13].raw_author_name | Matthew A. Deardorff |
| authorships[13].is_corresponding | False |
| authorships[13].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[14].author.id | https://openalex.org/A5069224754 |
| authorships[14].author.orcid | https://orcid.org/0000-0003-3064-2488 |
| authorships[14].author.display_name | Emma Bedoukian |
| authorships[14].countries | AT, CA |
| authorships[14].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[14].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[14].institutions[0].id | https://openalex.org/I138211613 |
| authorships[14].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[14].institutions[0].type | government |
| authorships[14].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[14].institutions[0].country_code | AT |
| authorships[14].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[14].institutions[1].id | https://openalex.org/I125523173 |
| authorships[14].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[14].institutions[1].type | facility |
| authorships[14].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[14].institutions[1].country_code | AT |
| authorships[14].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[14].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[14].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[14].institutions[2].type | facility |
| authorships[14].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[14].institutions[2].country_code | AT |
| authorships[14].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[14].institutions[3].id | https://openalex.org/I141945490 |
| authorships[14].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[14].institutions[3].type | education |
| authorships[14].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[14].institutions[3].country_code | CA |
| authorships[14].institutions[3].display_name | University of British Columbia |
| authorships[14].author_position | middle |
| authorships[14].raw_author_name | Emma C. Bedoukian |
| authorships[14].is_corresponding | False |
| authorships[14].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[15].author.id | https://openalex.org/A5043039413 |
| authorships[15].author.orcid | https://orcid.org/0000-0002-5913-4551 |
| authorships[15].author.display_name | Yun Li |
| authorships[15].countries | AT, CA |
| authorships[15].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[15].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[15].institutions[0].id | https://openalex.org/I138211613 |
| authorships[15].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[15].institutions[0].type | government |
| authorships[15].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[15].institutions[0].country_code | AT |
| authorships[15].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[15].institutions[1].id | https://openalex.org/I125523173 |
| authorships[15].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[15].institutions[1].type | facility |
| authorships[15].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[15].institutions[1].country_code | AT |
| authorships[15].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[15].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[15].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[15].institutions[2].type | facility |
| authorships[15].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[15].institutions[2].country_code | AT |
| authorships[15].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[15].institutions[3].id | https://openalex.org/I141945490 |
| authorships[15].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[15].institutions[3].type | education |
| authorships[15].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[15].institutions[3].country_code | CA |
| authorships[15].institutions[3].display_name | University of British Columbia |
| authorships[15].author_position | middle |
| authorships[15].raw_author_name | Yun Li |
| authorships[15].is_corresponding | False |
| authorships[15].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[16].author.id | https://openalex.org/A5082639556 |
| authorships[16].author.orcid | https://orcid.org/0000-0001-7381-0731 |
| authorships[16].author.display_name | Gökhan Yigit |
| authorships[16].countries | AT, CA |
| authorships[16].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[16].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[16].institutions[0].id | https://openalex.org/I138211613 |
| authorships[16].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[16].institutions[0].type | government |
| authorships[16].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[16].institutions[0].country_code | AT |
| authorships[16].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[16].institutions[1].id | https://openalex.org/I125523173 |
| authorships[16].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[16].institutions[1].type | facility |
| authorships[16].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[16].institutions[1].country_code | AT |
| authorships[16].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[16].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[16].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[16].institutions[2].type | facility |
| authorships[16].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[16].institutions[2].country_code | AT |
| authorships[16].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[16].institutions[3].id | https://openalex.org/I141945490 |
| authorships[16].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[16].institutions[3].type | education |
| authorships[16].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[16].institutions[3].country_code | CA |
| authorships[16].institutions[3].display_name | University of British Columbia |
| authorships[16].author_position | middle |
| authorships[16].raw_author_name | Gökhan Yigit |
| authorships[16].is_corresponding | False |
| authorships[16].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[17].author.id | https://openalex.org/A5025090907 |
| authorships[17].author.orcid | https://orcid.org/0000-0002-1583-6404 |
| authorships[17].author.display_name | Jörg Menche |
| authorships[17].countries | AT, CA |
| authorships[17].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[17].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[17].institutions[0].id | https://openalex.org/I138211613 |
| authorships[17].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[17].institutions[0].type | government |
| authorships[17].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[17].institutions[0].country_code | AT |
| authorships[17].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[17].institutions[1].id | https://openalex.org/I125523173 |
| authorships[17].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[17].institutions[1].type | facility |
| authorships[17].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[17].institutions[1].country_code | AT |
| authorships[17].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[17].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[17].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[17].institutions[2].type | facility |
| authorships[17].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[17].institutions[2].country_code | AT |
| authorships[17].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[17].institutions[3].id | https://openalex.org/I141945490 |
| authorships[17].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[17].institutions[3].type | education |
| authorships[17].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[17].institutions[3].country_code | CA |
| authorships[17].institutions[3].display_name | University of British Columbia |
| authorships[17].author_position | middle |
| authorships[17].raw_author_name | Jörg Menche |
| authorships[17].is_corresponding | False |
| authorships[17].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[18].author.id | https://openalex.org/A5058411970 |
| authorships[18].author.orcid | https://orcid.org/0000-0001-9317-8155 |
| authorships[18].author.display_name | E. Ferda Perçin |
| authorships[18].countries | AT, CA |
| authorships[18].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[18].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[18].institutions[0].id | https://openalex.org/I138211613 |
| authorships[18].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[18].institutions[0].type | government |
| authorships[18].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[18].institutions[0].country_code | AT |
| authorships[18].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[18].institutions[1].id | https://openalex.org/I125523173 |
| authorships[18].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[18].institutions[1].type | facility |
| authorships[18].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[18].institutions[1].country_code | AT |
| authorships[18].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[18].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[18].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[18].institutions[2].type | facility |
| authorships[18].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[18].institutions[2].country_code | AT |
| authorships[18].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[18].institutions[3].id | https://openalex.org/I141945490 |
| authorships[18].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[18].institutions[3].type | education |
| authorships[18].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[18].institutions[3].country_code | CA |
| authorships[18].institutions[3].display_name | University of British Columbia |
| authorships[18].author_position | middle |
| authorships[18].raw_author_name | E. Ferda Perçin |
| authorships[18].is_corresponding | False |
| authorships[18].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[19].author.id | https://openalex.org/A5084486104 |
| authorships[19].author.orcid | https://orcid.org/0000-0003-2589-0364 |
| authorships[19].author.display_name | Bernd Wollnik |
| authorships[19].countries | AT, CA |
| authorships[19].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[19].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[19].institutions[0].id | https://openalex.org/I138211613 |
| authorships[19].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[19].institutions[0].type | government |
| authorships[19].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[19].institutions[0].country_code | AT |
| authorships[19].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[19].institutions[1].id | https://openalex.org/I125523173 |
| authorships[19].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[19].institutions[1].type | facility |
| authorships[19].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[19].institutions[1].country_code | AT |
| authorships[19].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[19].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[19].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[19].institutions[2].type | facility |
| authorships[19].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[19].institutions[2].country_code | AT |
| authorships[19].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[19].institutions[3].id | https://openalex.org/I141945490 |
| authorships[19].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[19].institutions[3].type | education |
| authorships[19].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[19].institutions[3].country_code | CA |
| authorships[19].institutions[3].display_name | University of British Columbia |
| authorships[19].author_position | middle |
| authorships[19].raw_author_name | Bernd Wollnik |
| authorships[19].is_corresponding | False |
| authorships[19].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[20].author.id | https://openalex.org/A5002421498 |
| authorships[20].author.orcid | https://orcid.org/0000-0002-5391-7387 |
| authorships[20].author.display_name | Christian Henneberger |
| authorships[20].countries | AT, CA |
| authorships[20].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[20].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[20].institutions[0].id | https://openalex.org/I138211613 |
| authorships[20].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[20].institutions[0].type | government |
| authorships[20].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[20].institutions[0].country_code | AT |
| authorships[20].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[20].institutions[1].id | https://openalex.org/I125523173 |
| authorships[20].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[20].institutions[1].type | facility |
| authorships[20].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[20].institutions[1].country_code | AT |
| authorships[20].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[20].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[20].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[20].institutions[2].type | facility |
| authorships[20].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[20].institutions[2].country_code | AT |
| authorships[20].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[20].institutions[3].id | https://openalex.org/I141945490 |
| authorships[20].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[20].institutions[3].type | education |
| authorships[20].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[20].institutions[3].country_code | CA |
| authorships[20].institutions[3].display_name | University of British Columbia |
| authorships[20].author_position | middle |
| authorships[20].raw_author_name | Christian Henneberger |
| authorships[20].is_corresponding | False |
| authorships[20].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[21].author.id | https://openalex.org/A5055698670 |
| authorships[21].author.orcid | |
| authorships[21].author.display_name | Frank J. Kaiser |
| authorships[21].countries | AT, CA |
| authorships[21].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[21].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[21].institutions[0].id | https://openalex.org/I138211613 |
| authorships[21].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[21].institutions[0].type | government |
| authorships[21].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[21].institutions[0].country_code | AT |
| authorships[21].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[21].institutions[1].id | https://openalex.org/I125523173 |
| authorships[21].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[21].institutions[1].type | facility |
| authorships[21].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[21].institutions[1].country_code | AT |
| authorships[21].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[21].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[21].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[21].institutions[2].type | facility |
| authorships[21].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[21].institutions[2].country_code | AT |
| authorships[21].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[21].institutions[3].id | https://openalex.org/I141945490 |
| authorships[21].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[21].institutions[3].type | education |
| authorships[21].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[21].institutions[3].country_code | CA |
| authorships[21].institutions[3].display_name | University of British Columbia |
| authorships[21].author_position | middle |
| authorships[21].raw_author_name | Frank J. Kaiser |
| authorships[21].is_corresponding | False |
| authorships[21].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[22].author.id | https://openalex.org/A5059310975 |
| authorships[22].author.orcid | https://orcid.org/0000-0002-8194-3777 |
| authorships[22].author.display_name | Josef Penninger |
| authorships[22].countries | AT, CA |
| authorships[22].affiliations[0].institution_ids | https://openalex.org/I125523173, https://openalex.org/I138211613, https://openalex.org/I141945490, https://openalex.org/I4210142115 |
| authorships[22].affiliations[0].raw_affiliation_string | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| authorships[22].institutions[0].id | https://openalex.org/I138211613 |
| authorships[22].institutions[0].ror | https://ror.org/03anc3s24 |
| authorships[22].institutions[0].type | government |
| authorships[22].institutions[0].lineage | https://openalex.org/I138211613 |
| authorships[22].institutions[0].country_code | AT |
| authorships[22].institutions[0].display_name | Austrian Academy of Sciences |
| authorships[22].institutions[1].id | https://openalex.org/I125523173 |
| authorships[22].institutions[1].ror | https://ror.org/01zqrxf85 |
| authorships[22].institutions[1].type | facility |
| authorships[22].institutions[1].lineage | https://openalex.org/I125523173, https://openalex.org/I138211613 |
| authorships[22].institutions[1].country_code | AT |
| authorships[22].institutions[1].display_name | Institute of Molecular Biotechnology |
| authorships[22].institutions[2].id | https://openalex.org/I4210142115 |
| authorships[22].institutions[2].ror | https://ror.org/03hgkg910 |
| authorships[22].institutions[2].type | facility |
| authorships[22].institutions[2].lineage | https://openalex.org/I2799334681, https://openalex.org/I4210142115 |
| authorships[22].institutions[2].country_code | AT |
| authorships[22].institutions[2].display_name | Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases |
| authorships[22].institutions[3].id | https://openalex.org/I141945490 |
| authorships[22].institutions[3].ror | https://ror.org/03rmrcq20 |
| authorships[22].institutions[3].type | education |
| authorships[22].institutions[3].lineage | https://openalex.org/I141945490, https://openalex.org/I4210128534, https://openalex.org/I4210135497, https://openalex.org/I4387154919 |
| authorships[22].institutions[3].country_code | CA |
| authorships[22].institutions[3].display_name | University of British Columbia |
| authorships[22].author_position | last |
| authorships[22].raw_author_name | Josef M. Penninger |
| authorships[22].is_corresponding | False |
| authorships[22].raw_affiliation_strings | From the IMBA (V.N., T.-P.P., P.M., A.K., I.K., R.N., J.M.P.), Institute of Molecular Biotechnology of the Austrian Academy of Sciences, VBC—Vienna BioCenter Campus, Austria; Department of Medical Genetics (J.M.P.), Life Science Institute, University of British Columbia, Vancouver, Canada; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (V.N., E.L.), Vienna, Austria; Section for Functional Genetics at the Institute of Human Genetics (R.H., F.J.K.), University of Lübeck; German Center... |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://ng.neurology.org/content/nng/5/3/e330.full.pdf |
| open_access.oa_status | gold |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | HACE1 deficiency leads to structural and functional neurodevelopmental defects |
| has_fulltext | True |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T11772 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9998999834060669 |
| primary_topic.domain.id | https://openalex.org/domains/1 |
| primary_topic.domain.display_name | Life Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/1311 |
| primary_topic.subfield.display_name | Genetics |
| primary_topic.display_name | Genetics and Neurodevelopmental Disorders |
| related_works | https://openalex.org/W4321597119, https://openalex.org/W3112337162, https://openalex.org/W2327643467, https://openalex.org/W4210329656, https://openalex.org/W2931168899, https://openalex.org/W2081299461, https://openalex.org/W4396881187, https://openalex.org/W3029631142, https://openalex.org/W2087190907, https://openalex.org/W2917592723 |
| cited_by_count | 34 |
| counts_by_year[0].year | 2025 |
| counts_by_year[0].cited_by_count | 1 |
| counts_by_year[1].year | 2024 |
| counts_by_year[1].cited_by_count | 9 |
| counts_by_year[2].year | 2023 |
| counts_by_year[2].cited_by_count | 4 |
| counts_by_year[3].year | 2022 |
| counts_by_year[3].cited_by_count | 11 |
| counts_by_year[4].year | 2021 |
| counts_by_year[4].cited_by_count | 5 |
| counts_by_year[5].year | 2020 |
| counts_by_year[5].cited_by_count | 3 |
| counts_by_year[6].year | 2019 |
| counts_by_year[6].cited_by_count | 1 |
| locations_count | 6 |
| best_oa_location.id | doi:10.1212/nxg.0000000000000330 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S2764805357 |
| best_oa_location.source.issn | 2376-7839 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | True |
| best_oa_location.source.issn_l | 2376-7839 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | True |
| best_oa_location.source.display_name | Neurology Genetics |
| best_oa_location.source.host_organization | https://openalex.org/P4310318547 |
| best_oa_location.source.host_organization_name | Wolters Kluwer |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310318547 |
| best_oa_location.license | cc-by |
| best_oa_location.pdf_url | https://ng.neurology.org/content/nng/5/3/e330.full.pdf |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | Neurology Genetics |
| best_oa_location.landing_page_url | https://doi.org/10.1212/nxg.0000000000000330 |
| primary_location.id | doi:10.1212/nxg.0000000000000330 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S2764805357 |
| primary_location.source.issn | 2376-7839 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | True |
| primary_location.source.issn_l | 2376-7839 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | True |
| primary_location.source.display_name | Neurology Genetics |
| primary_location.source.host_organization | https://openalex.org/P4310318547 |
| primary_location.source.host_organization_name | Wolters Kluwer |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310318547 |
| primary_location.license | cc-by |
| primary_location.pdf_url | https://ng.neurology.org/content/nng/5/3/e330.full.pdf |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | https://openalex.org/licenses/cc-by |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | Neurology Genetics |
| primary_location.landing_page_url | https://doi.org/10.1212/nxg.0000000000000330 |
| publication_date | 2019-05-01 |
| publication_year | 2019 |
| referenced_works | https://openalex.org/W2115208818, https://openalex.org/W2131497592, https://openalex.org/W2079957854, https://openalex.org/W2346262847, https://openalex.org/W2096019836, https://openalex.org/W2171657219, https://openalex.org/W2791111921, https://openalex.org/W2006663505, https://openalex.org/W2000692947, https://openalex.org/W1992557615, https://openalex.org/W2076316109, https://openalex.org/W2135028625, https://openalex.org/W2015683487, https://openalex.org/W2521138223, https://openalex.org/W2104419150, https://openalex.org/W6649840237, https://openalex.org/W2010853947, https://openalex.org/W2064836594, https://openalex.org/W6640131856, https://openalex.org/W2169812612, https://openalex.org/W2580303188, https://openalex.org/W2581296206, https://openalex.org/W2099540110, https://openalex.org/W2044233502, https://openalex.org/W2116895182, https://openalex.org/W4214891130, https://openalex.org/W2127810309, https://openalex.org/W2000014691, https://openalex.org/W1968826282, https://openalex.org/W1984387240, https://openalex.org/W2020492688, https://openalex.org/W2142796088, https://openalex.org/W2160616996, https://openalex.org/W2466719328, https://openalex.org/W2534390616, https://openalex.org/W2506784803, https://openalex.org/W2750793262, https://openalex.org/W2801089811, https://openalex.org/W1923059552, https://openalex.org/W2009782005, https://openalex.org/W1997603886 |
| referenced_works_count | 41 |
| abstract_inverted_index.a | 3, 20 |
| abstract_inverted_index.in | 24 |
| abstract_inverted_index.to | 7 |
| abstract_inverted_index.Our | 0 |
| abstract_inverted_index.and | 28, 30 |
| abstract_inverted_index.the | 15 |
| abstract_inverted_index.that | 19, 34 |
| abstract_inverted_index.this | 9 |
| abstract_inverted_index.HACE1 | 21 |
| abstract_inverted_index.SPPRS | 36 |
| abstract_inverted_index.first | 4, 16 |
| abstract_inverted_index.human | 11 |
| abstract_inverted_index.model | 6 |
| abstract_inverted_index.proof | 18 |
| abstract_inverted_index.animal | 5 |
| abstract_inverted_index.causal | 17 |
| abstract_inverted_index.number | 27 |
| abstract_inverted_index.complex | 10 |
| abstract_inverted_index.disease | 12 |
| abstract_inverted_index.dissect | 8 |
| abstract_inverted_index.provide | 2 |
| abstract_inverted_index.results | 1, 23 |
| abstract_inverted_index.synapse | 26 |
| abstract_inverted_index.features | 33 |
| abstract_inverted_index.resemble | 35 |
| abstract_inverted_index.decreased | 25 |
| abstract_inverted_index.patients. | 37 |
| abstract_inverted_index.syndrome, | 13 |
| abstract_inverted_index.behavioral | 31 |
| abstract_inverted_index.deficiency | 22 |
| abstract_inverted_index.structural | 29 |
| abstract_inverted_index.establishing | 14 |
| abstract_inverted_index.neuropathologic | 32 |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 90 |
| countries_distinct_count | 2 |
| institutions_distinct_count | 23 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.5799999833106995 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.92611013 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |