A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus Article Swipe
Amrita Singh
,
Garrett Allington
,
Stephen Viviano
,
Stephen McGee
,
Emre Kiziltug
,
Shaojie Ma
,
Shujuan Zhao
,
Kedous Y. Mekbib
,
John Shohfi
,
Phan Q. Duy
,
Tyrone DeSpenza
,
Charuta G. Furey
,
Benjamin C. Reeves
,
Hannah Smith
,
André M. M. Sousa
,
Adriana Cherskov
,
August Allocco
,
Carol Nelson‐Williams
,
Shozeb Haider
,
Syed R A Rizvi
,
Seth L. Alper
,
Nenad Šestan
,
Hermela Shimelis
,
Lauren K. Walsh
,
Richard P. Lifton
,
Andrés Moreno-De-Luca
,
Sheng Chih Jin
,
Paul Kruszka
,
Engin Deniz
,
Kristopher T. Kahle
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1093/brain/awad405
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1093/brain/awad405
Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder requiring brain surgery in children. Recent studies have implicated SMARCC1, a component of the BRG1-associated factor (BAF) chromatin remodelling complex, as a candidate congenital hydrocephalus gene. However, SMARCC1 variants have not been systematically examined in a large patient cohort or conclusively linked with a human syndrome. Moreover, congenital hydrocephalus-associated SMARCC1 variants have not been functionally validated or mechanistically studied in vivo. Here, we aimed to assess the prevalence of SMARCC1 variants in an expanded patient cohort, describe associated clinical and radiographic phenotypes, and assess the impact of Smarcc1 depletion in a novel Xenopus tropicalis model of congenital hydrocephalus. To do this, we performed a genetic association study using whole-exome sequencing from a cohort consisting of 2697 total ventriculomegalic trios, including patients with neurosurgically-treated congenital hydrocephalus, that total 8091 exomes collected over 7 years (2016–23). A comparison control cohort consisted of 1798 exomes from unaffected siblings of patients with autism spectrum disorder and their unaffected parents were sourced from the Simons Simplex Collection. Enrichment and impact on protein structure were assessed in identified variants. Effects on the human fetal brain transcriptome were examined with RNA-sequencing and Smarcc1 knockdowns were generated in Xenopus and studied using optical coherence tomography imaging, in situ hybridization and immunofluorescence. SMARCC1 surpassed genome-wide significance thresholds, yielding six rare, protein-altering de novo variants localized to highly conserved residues in key functional domains. Patients exhibited hydrocephalus with aqueductal stenosis; corpus callosum abnormalities, developmental delay, and cardiac defects were also common. Xenopus knockdowns recapitulated both aqueductal stenosis and cardiac defects and were rescued by wild-type but not patient-specific variant SMARCC1. Hydrocephalic SMARCC1-variant human fetal brain and Smarcc1-variant Xenopus brain exhibited a similarly altered expression of key genes linked to midgestational neurogenesis, including the transcription factors NEUROD2 and MAB21L2. These results suggest de novo variants in SMARCC1 cause a novel human BAFopathy we term ‘SMARCC1-associated developmental dysgenesis syndrome’, characterized by variable presence of cerebral ventriculomegaly, aqueductal stenosis, developmental delay and a variety of structural brain or cardiac defects. These data underscore the importance of SMARCC1 and the BAF chromatin remodelling complex for human brain morphogenesis and provide evidence for a ‘neural stem cell’ paradigm of congenital hydrocephalus pathogenesis. These results highlight utility of trio-based whole-exome sequencing for identifying pathogenic variants in sporadic congenital structural brain disorders and suggest whole-exome sequencing may be a valuable adjunct in clinical management of congenital hydrocephalus patients.
Related Topics
Concepts
Exome sequencing
Hydrocephalus
Ventriculomegaly
Exome
Biology
Genetics
Pathology
Medicine
Bioinformatics
Phenotype
Gene
Fetus
Psychiatry
Pregnancy
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1093/brain/awad405
- OA Status
- green
- Cited By
- 13
- References
- 112
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4390120745
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4390120745Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1093/brain/awad405Digital Object Identifier
- Title
-
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalusWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-12-20Full publication date if available
- Authors
-
Amrita Singh, Garrett Allington, Stephen Viviano, Stephen McGee, Emre Kiziltug, Shaojie Ma, Shujuan Zhao, Kedous Y. Mekbib, John Shohfi, Phan Q. Duy, Tyrone DeSpenza, Charuta G. Furey, Benjamin C. Reeves, Hannah Smith, André M. M. Sousa, Adriana Cherskov, August Allocco, Carol Nelson‐Williams, Shozeb Haider, Syed R A Rizvi, Seth L. Alper, Nenad Šestan, Hermela Shimelis, Lauren K. Walsh, Richard P. Lifton, Andrés Moreno-De-Luca, Sheng Chih Jin, Paul Kruszka, Engin Deniz, Kristopher T. KahleList of authors in order
- Landing page
-
https://doi.org/10.1093/brain/awad405Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://www.ncbi.nlm.nih.gov/pmc/articles/10994532Direct OA link when available
- Concepts
-
Exome sequencing, Hydrocephalus, Ventriculomegaly, Exome, Biology, Genetics, Pathology, Medicine, Bioinformatics, Phenotype, Gene, Fetus, Psychiatry, PregnancyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
13Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 6, 2024: 7Per-year citation counts (last 5 years)
- References (count)
-
112Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4390120745 |
|---|---|
| doi | https://doi.org/10.1093/brain/awad405 |
| ids.doi | https://doi.org/10.1093/brain/awad405 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/38128548 |
| ids.openalex | https://openalex.org/W4390120745 |
| fwci | 2.4137153 |
| mesh[0].qualifier_ui | |
| mesh[0].descriptor_ui | D002648 |
| mesh[0].is_major_topic | False |
| mesh[0].qualifier_name | |
| mesh[0].descriptor_name | Child |
| mesh[1].qualifier_ui | |
| mesh[1].descriptor_ui | D006801 |
| mesh[1].is_major_topic | False |
| mesh[1].qualifier_name | |
| mesh[1].descriptor_name | Humans |
| mesh[2].qualifier_ui | Q000235 |
| mesh[2].descriptor_ui | D000067877 |
| mesh[2].is_major_topic | True |
| mesh[2].qualifier_name | genetics |
| mesh[2].descriptor_name | Autism Spectrum Disorder |
| mesh[3].qualifier_ui | Q000235 |
| mesh[3].descriptor_ui | D014157 |
| mesh[3].is_major_topic | False |
| mesh[3].qualifier_name | genetics |
| mesh[3].descriptor_name | Transcription Factors |
| mesh[4].qualifier_ui | Q000000981 |
| mesh[4].descriptor_ui | D006849 |
| mesh[4].is_major_topic | True |
| mesh[4].qualifier_name | diagnostic imaging |
| mesh[4].descriptor_name | Hydrocephalus |
| mesh[5].qualifier_ui | Q000235 |
| mesh[5].descriptor_ui | D006849 |
| mesh[5].is_major_topic | True |
| mesh[5].qualifier_name | genetics |
| mesh[5].descriptor_name | Hydrocephalus |
| mesh[6].qualifier_ui | |
| mesh[6].descriptor_ui | D044127 |
| mesh[6].is_major_topic | False |
| mesh[6].qualifier_name | |
| mesh[6].descriptor_name | Epigenesis, Genetic |
| mesh[7].qualifier_ui | Q000235 |
| mesh[7].descriptor_ui | D005136 |
| mesh[7].is_major_topic | False |
| mesh[7].qualifier_name | genetics |
| mesh[7].descriptor_name | Eye Proteins |
| mesh[8].qualifier_ui | Q000235 |
| mesh[8].descriptor_ui | D047908 |
| mesh[8].is_major_topic | False |
| mesh[8].qualifier_name | genetics |
| mesh[8].descriptor_name | Intracellular Signaling Peptides and Proteins |
| mesh[9].qualifier_ui | Q000002 |
| mesh[9].descriptor_ui | D002535 |
| mesh[9].is_major_topic | False |
| mesh[9].qualifier_name | abnormalities |
| mesh[9].descriptor_name | Cerebral Aqueduct |
| mesh[10].qualifier_ui | |
| mesh[10].descriptor_ui | D040181 |
| mesh[10].is_major_topic | True |
| mesh[10].qualifier_name | |
| mesh[10].descriptor_name | Genetic Diseases, X-Linked |
| mesh[11].qualifier_ui | |
| mesh[11].descriptor_ui | D002648 |
| mesh[11].is_major_topic | False |
| mesh[11].qualifier_name | |
| mesh[11].descriptor_name | Child |
| mesh[12].qualifier_ui | |
| mesh[12].descriptor_ui | D006801 |
| mesh[12].is_major_topic | False |
| mesh[12].qualifier_name | |
| mesh[12].descriptor_name | Humans |
| mesh[13].qualifier_ui | Q000235 |
| mesh[13].descriptor_ui | D000067877 |
| mesh[13].is_major_topic | True |
| mesh[13].qualifier_name | genetics |
| mesh[13].descriptor_name | Autism Spectrum Disorder |
| mesh[14].qualifier_ui | Q000235 |
| mesh[14].descriptor_ui | D014157 |
| mesh[14].is_major_topic | False |
| mesh[14].qualifier_name | genetics |
| mesh[14].descriptor_name | Transcription Factors |
| mesh[15].qualifier_ui | Q000000981 |
| mesh[15].descriptor_ui | D006849 |
| mesh[15].is_major_topic | True |
| mesh[15].qualifier_name | diagnostic imaging |
| mesh[15].descriptor_name | Hydrocephalus |
| mesh[16].qualifier_ui | Q000235 |
| mesh[16].descriptor_ui | D006849 |
| mesh[16].is_major_topic | True |
| mesh[16].qualifier_name | genetics |
| mesh[16].descriptor_name | Hydrocephalus |
| mesh[17].qualifier_ui | |
| mesh[17].descriptor_ui | D044127 |
| mesh[17].is_major_topic | False |
| mesh[17].qualifier_name | |
| mesh[17].descriptor_name | Epigenesis, Genetic |
| mesh[18].qualifier_ui | Q000235 |
| mesh[18].descriptor_ui | D005136 |
| mesh[18].is_major_topic | False |
| mesh[18].qualifier_name | genetics |
| mesh[18].descriptor_name | Eye Proteins |
| mesh[19].qualifier_ui | Q000235 |
| mesh[19].descriptor_ui | D047908 |
| mesh[19].is_major_topic | False |
| mesh[19].qualifier_name | genetics |
| mesh[19].descriptor_name | Intracellular Signaling Peptides and Proteins |
| mesh[20].qualifier_ui | Q000002 |
| mesh[20].descriptor_ui | D002535 |
| mesh[20].is_major_topic | False |
| mesh[20].qualifier_name | abnormalities |
| mesh[20].descriptor_name | Cerebral Aqueduct |
| mesh[21].qualifier_ui | |
| mesh[21].descriptor_ui | D040181 |
| mesh[21].is_major_topic | True |
| mesh[21].qualifier_name | |
| mesh[21].descriptor_name | Genetic Diseases, X-Linked |
| mesh[22].qualifier_ui | |
| mesh[22].descriptor_ui | D002648 |
| mesh[22].is_major_topic | False |
| mesh[22].qualifier_name | |
| mesh[22].descriptor_name | Child |
| mesh[23].qualifier_ui | |
| mesh[23].descriptor_ui | D006801 |
| mesh[23].is_major_topic | False |
| mesh[23].qualifier_name | |
| mesh[23].descriptor_name | Humans |
| mesh[24].qualifier_ui | Q000235 |
| mesh[24].descriptor_ui | D000067877 |
| mesh[24].is_major_topic | True |
| mesh[24].qualifier_name | genetics |
| mesh[24].descriptor_name | Autism Spectrum Disorder |
| mesh[25].qualifier_ui | Q000235 |
| mesh[25].descriptor_ui | D014157 |
| mesh[25].is_major_topic | False |
| mesh[25].qualifier_name | genetics |
| mesh[25].descriptor_name | Transcription Factors |
| mesh[26].qualifier_ui | Q000000981 |
| mesh[26].descriptor_ui | D006849 |
| mesh[26].is_major_topic | True |
| mesh[26].qualifier_name | diagnostic imaging |
| mesh[26].descriptor_name | Hydrocephalus |
| mesh[27].qualifier_ui | Q000235 |
| mesh[27].descriptor_ui | D006849 |
| mesh[27].is_major_topic | True |
| mesh[27].qualifier_name | genetics |
| mesh[27].descriptor_name | Hydrocephalus |
| mesh[28].qualifier_ui | |
| mesh[28].descriptor_ui | D044127 |
| mesh[28].is_major_topic | False |
| mesh[28].qualifier_name | |
| mesh[28].descriptor_name | Epigenesis, Genetic |
| mesh[29].qualifier_ui | Q000235 |
| mesh[29].descriptor_ui | D005136 |
| mesh[29].is_major_topic | False |
| mesh[29].qualifier_name | genetics |
| mesh[29].descriptor_name | Eye Proteins |
| mesh[30].qualifier_ui | Q000235 |
| mesh[30].descriptor_ui | D047908 |
| mesh[30].is_major_topic | False |
| mesh[30].qualifier_name | genetics |
| mesh[30].descriptor_name | Intracellular Signaling Peptides and Proteins |
| mesh[31].qualifier_ui | Q000002 |
| mesh[31].descriptor_ui | D002535 |
| mesh[31].is_major_topic | False |
| mesh[31].qualifier_name | abnormalities |
| mesh[31].descriptor_name | Cerebral Aqueduct |
| mesh[32].qualifier_ui | |
| mesh[32].descriptor_ui | D040181 |
| mesh[32].is_major_topic | True |
| mesh[32].qualifier_name | |
| mesh[32].descriptor_name | Genetic Diseases, X-Linked |
| mesh[33].qualifier_ui | |
| mesh[33].descriptor_ui | D002648 |
| mesh[33].is_major_topic | False |
| mesh[33].qualifier_name | |
| mesh[33].descriptor_name | Child |
| mesh[34].qualifier_ui | |
| mesh[34].descriptor_ui | D006801 |
| mesh[34].is_major_topic | False |
| mesh[34].qualifier_name | |
| mesh[34].descriptor_name | Humans |
| mesh[35].qualifier_ui | Q000235 |
| mesh[35].descriptor_ui | D000067877 |
| mesh[35].is_major_topic | True |
| mesh[35].qualifier_name | genetics |
| mesh[35].descriptor_name | Autism Spectrum Disorder |
| mesh[36].qualifier_ui | Q000235 |
| mesh[36].descriptor_ui | D014157 |
| mesh[36].is_major_topic | False |
| mesh[36].qualifier_name | genetics |
| mesh[36].descriptor_name | Transcription Factors |
| mesh[37].qualifier_ui | Q000000981 |
| mesh[37].descriptor_ui | D006849 |
| mesh[37].is_major_topic | True |
| mesh[37].qualifier_name | diagnostic imaging |
| mesh[37].descriptor_name | Hydrocephalus |
| mesh[38].qualifier_ui | Q000235 |
| mesh[38].descriptor_ui | D006849 |
| mesh[38].is_major_topic | True |
| mesh[38].qualifier_name | genetics |
| mesh[38].descriptor_name | Hydrocephalus |
| mesh[39].qualifier_ui | |
| mesh[39].descriptor_ui | D044127 |
| mesh[39].is_major_topic | False |
| mesh[39].qualifier_name | |
| mesh[39].descriptor_name | Epigenesis, Genetic |
| mesh[40].qualifier_ui | Q000235 |
| mesh[40].descriptor_ui | D005136 |
| mesh[40].is_major_topic | False |
| mesh[40].qualifier_name | genetics |
| mesh[40].descriptor_name | Eye Proteins |
| mesh[41].qualifier_ui | Q000235 |
| mesh[41].descriptor_ui | D047908 |
| mesh[41].is_major_topic | False |
| mesh[41].qualifier_name | genetics |
| mesh[41].descriptor_name | Intracellular Signaling Peptides and Proteins |
| mesh[42].qualifier_ui | Q000002 |
| mesh[42].descriptor_ui | D002535 |
| mesh[42].is_major_topic | False |
| mesh[42].qualifier_name | abnormalities |
| mesh[42].descriptor_name | Cerebral Aqueduct |
| mesh[43].qualifier_ui | |
| mesh[43].descriptor_ui | D040181 |
| mesh[43].is_major_topic | True |
| mesh[43].qualifier_name | |
| mesh[43].descriptor_name | Genetic Diseases, X-Linked |
| mesh[44].qualifier_ui | |
| mesh[44].descriptor_ui | D002648 |
| mesh[44].is_major_topic | False |
| mesh[44].qualifier_name | |
| mesh[44].descriptor_name | Child |
| mesh[45].qualifier_ui | |
| mesh[45].descriptor_ui | D006801 |
| mesh[45].is_major_topic | False |
| mesh[45].qualifier_name | |
| mesh[45].descriptor_name | Humans |
| mesh[46].qualifier_ui | Q000235 |
| mesh[46].descriptor_ui | D000067877 |
| mesh[46].is_major_topic | True |
| mesh[46].qualifier_name | genetics |
| mesh[46].descriptor_name | Autism Spectrum Disorder |
| mesh[47].qualifier_ui | Q000235 |
| mesh[47].descriptor_ui | D014157 |
| mesh[47].is_major_topic | False |
| mesh[47].qualifier_name | genetics |
| mesh[47].descriptor_name | Transcription Factors |
| mesh[48].qualifier_ui | Q000000981 |
| mesh[48].descriptor_ui | D006849 |
| mesh[48].is_major_topic | True |
| mesh[48].qualifier_name | diagnostic imaging |
| mesh[48].descriptor_name | Hydrocephalus |
| mesh[49].qualifier_ui | Q000235 |
| mesh[49].descriptor_ui | D006849 |
| mesh[49].is_major_topic | True |
| mesh[49].qualifier_name | genetics |
| mesh[49].descriptor_name | Hydrocephalus |
| type | article |
| title | A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus |
| awards[0].id | https://openalex.org/G4092428220 |
| awards[0].funder_id | https://openalex.org/F4320337611 |
| awards[0].display_name | |
| awards[0].funder_award_id | R01HD104938-01A1 |
| awards[0].funder_display_name | Eunice Kennedy Shriver National Institute of Child Health and Human Development |
| awards[1].id | https://openalex.org/G3134000299 |
| awards[1].funder_id | https://openalex.org/F4320332161 |
| awards[1].display_name | |
| awards[1].funder_award_id | K12 228168 |
| awards[1].funder_display_name | National Institutes of Health |
| awards[2].id | https://openalex.org/G8065120882 |
| awards[2].funder_id | https://openalex.org/F4320337338 |
| awards[2].display_name | |
| awards[2].funder_award_id | R00HL143036-02 |
| awards[2].funder_display_name | National Heart, Lung, and Blood Institute |
| awards[3].id | https://openalex.org/G1667318398 |
| awards[3].funder_id | https://openalex.org/F4320334351 |
| awards[3].display_name | |
| awards[3].funder_award_id | UM1HG006493 |
| awards[3].funder_display_name | Center for Mendelian Genomics, University of Washington |
| awards[4].id | https://openalex.org/G7411152527 |
| awards[4].funder_id | https://openalex.org/F4320332161 |
| awards[4].display_name | |
| awards[4].funder_award_id | R21 NS116484-02 |
| awards[4].funder_display_name | National Institutes of Health |
| awards[5].id | https://openalex.org/G3464266293 |
| awards[5].funder_id | https://openalex.org/F4320332161 |
| awards[5].display_name | |
| awards[5].funder_award_id | R01HL109942 |
| awards[5].funder_display_name | National Institutes of Health |
| awards[6].id | https://openalex.org/G1081960320 |
| awards[6].funder_id | https://openalex.org/F4320332161 |
| awards[6].display_name | |
| awards[6].funder_award_id | R01 NS109358 |
| awards[6].funder_display_name | National Institutes of Health |
| awards[7].id | https://openalex.org/G5734179028 |
| awards[7].funder_id | https://openalex.org/F4320334351 |
| awards[7].display_name | |
| awards[7].funder_award_id | U24HG008956 |
| awards[7].funder_display_name | Center for Mendelian Genomics, University of Washington |
| awards[8].id | https://openalex.org/G734449008 |
| awards[8].funder_id | https://openalex.org/F4320332161 |
| awards[8].display_name | |
| awards[8].funder_award_id | R01 NS111029-01A1 |
| awards[8].funder_display_name | National Institutes of Health |
| awards[9].id | https://openalex.org/G1420921325 |
| awards[9].funder_id | https://openalex.org/F4320332161 |
| awards[9].display_name | |
| awards[9].funder_award_id | R01 NS127879-01 |
| awards[9].funder_display_name | National Institutes of Health |
| biblio.issue | 4 |
| biblio.volume | 147 |
| biblio.last_page | 1570 |
| biblio.first_page | 1553 |
| topics[0].id | https://openalex.org/T12820 |
| 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/1312 |
| topics[0].subfield.display_name | Molecular Biology |
| topics[0].display_name | Chromatin Remodeling and Cancer |
| topics[1].id | https://openalex.org/T10978 |
| topics[1].field.id | https://openalex.org/fields/27 |
| topics[1].field.display_name | Medicine |
| topics[1].score | 0.9969000220298767 |
| topics[1].domain.id | https://openalex.org/domains/4 |
| topics[1].domain.display_name | Health Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/2735 |
| topics[1].subfield.display_name | Pediatrics, Perinatology and Child Health |
| topics[1].display_name | Prenatal Screening and Diagnostics |
| topics[2].id | https://openalex.org/T11213 |
| topics[2].field.id | https://openalex.org/fields/13 |
| topics[2].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[2].score | 0.9955000281333923 |
| topics[2].domain.id | https://openalex.org/domains/1 |
| topics[2].domain.display_name | Life Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/1311 |
| topics[2].subfield.display_name | Genetics |
| topics[2].display_name | Genomic variations and chromosomal abnormalities |
| funders[0].id | https://openalex.org/F4320312993 |
| funders[0].ror | |
| funders[0].display_name | Rudi Schulte Research Institute |
| funders[1].id | https://openalex.org/F4320332161 |
| funders[1].ror | https://ror.org/01cwqze88 |
| funders[1].display_name | National Institutes of Health |
| funders[2].id | https://openalex.org/F4320334351 |
| funders[2].ror | |
| funders[2].display_name | Center for Mendelian Genomics, University of Washington |
| funders[3].id | https://openalex.org/F4320337338 |
| funders[3].ror | https://ror.org/012pb6c26 |
| funders[3].display_name | National Heart, Lung, and Blood Institute |
| funders[4].id | https://openalex.org/F4320337611 |
| funders[4].ror | https://ror.org/04byxyr05 |
| funders[4].display_name | Eunice Kennedy Shriver National Institute of Child Health and Human Development |
| is_xpac | False |
| apc_list.value | 3658 |
| apc_list.currency | GBP |
| apc_list.value_usd | 4486 |
| apc_paid | |
| concepts[0].id | https://openalex.org/C16671776 |
| concepts[0].level | 4 |
| concepts[0].score | 0.614331841468811 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q5420592 |
| concepts[0].display_name | Exome sequencing |
| concepts[1].id | https://openalex.org/C2778134817 |
| concepts[1].level | 2 |
| concepts[1].score | 0.5849689245223999 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q193003 |
| concepts[1].display_name | Hydrocephalus |
| concepts[2].id | https://openalex.org/C2776212519 |
| concepts[2].level | 4 |
| concepts[2].score | 0.5828688144683838 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q17146272 |
| concepts[2].display_name | Ventriculomegaly |
| concepts[3].id | https://openalex.org/C10590036 |
| concepts[3].level | 5 |
| concepts[3].score | 0.5720542669296265 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q417664 |
| concepts[3].display_name | Exome |
| concepts[4].id | https://openalex.org/C86803240 |
| concepts[4].level | 0 |
| concepts[4].score | 0.5583345293998718 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[4].display_name | Biology |
| concepts[5].id | https://openalex.org/C54355233 |
| concepts[5].level | 1 |
| concepts[5].score | 0.45912253856658936 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[5].display_name | Genetics |
| concepts[6].id | https://openalex.org/C142724271 |
| concepts[6].level | 1 |
| concepts[6].score | 0.338359534740448 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q7208 |
| concepts[6].display_name | Pathology |
| concepts[7].id | https://openalex.org/C71924100 |
| concepts[7].level | 0 |
| concepts[7].score | 0.32887858152389526 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[7].display_name | Medicine |
| concepts[8].id | https://openalex.org/C60644358 |
| concepts[8].level | 1 |
| concepts[8].score | 0.32069724798202515 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q128570 |
| concepts[8].display_name | Bioinformatics |
| concepts[9].id | https://openalex.org/C127716648 |
| concepts[9].level | 3 |
| concepts[9].score | 0.18874242901802063 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q104053 |
| concepts[9].display_name | Phenotype |
| concepts[10].id | https://openalex.org/C104317684 |
| concepts[10].level | 2 |
| concepts[10].score | 0.15755295753479004 |
| concepts[10].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[10].display_name | Gene |
| concepts[11].id | https://openalex.org/C172680121 |
| concepts[11].level | 3 |
| concepts[11].score | 0.12560734152793884 |
| concepts[11].wikidata | https://www.wikidata.org/wiki/Q26513 |
| concepts[11].display_name | Fetus |
| concepts[12].id | https://openalex.org/C118552586 |
| concepts[12].level | 1 |
| concepts[12].score | 0.08239808678627014 |
| concepts[12].wikidata | https://www.wikidata.org/wiki/Q7867 |
| concepts[12].display_name | Psychiatry |
| concepts[13].id | https://openalex.org/C2779234561 |
| concepts[13].level | 2 |
| concepts[13].score | 0.0 |
| concepts[13].wikidata | https://www.wikidata.org/wiki/Q11995 |
| concepts[13].display_name | Pregnancy |
| keywords[0].id | https://openalex.org/keywords/exome-sequencing |
| keywords[0].score | 0.614331841468811 |
| keywords[0].display_name | Exome sequencing |
| keywords[1].id | https://openalex.org/keywords/hydrocephalus |
| keywords[1].score | 0.5849689245223999 |
| keywords[1].display_name | Hydrocephalus |
| keywords[2].id | https://openalex.org/keywords/ventriculomegaly |
| keywords[2].score | 0.5828688144683838 |
| keywords[2].display_name | Ventriculomegaly |
| keywords[3].id | https://openalex.org/keywords/exome |
| keywords[3].score | 0.5720542669296265 |
| keywords[3].display_name | Exome |
| keywords[4].id | https://openalex.org/keywords/biology |
| keywords[4].score | 0.5583345293998718 |
| keywords[4].display_name | Biology |
| keywords[5].id | https://openalex.org/keywords/genetics |
| keywords[5].score | 0.45912253856658936 |
| keywords[5].display_name | Genetics |
| keywords[6].id | https://openalex.org/keywords/pathology |
| keywords[6].score | 0.338359534740448 |
| keywords[6].display_name | Pathology |
| keywords[7].id | https://openalex.org/keywords/medicine |
| keywords[7].score | 0.32887858152389526 |
| keywords[7].display_name | Medicine |
| keywords[8].id | https://openalex.org/keywords/bioinformatics |
| keywords[8].score | 0.32069724798202515 |
| keywords[8].display_name | Bioinformatics |
| keywords[9].id | https://openalex.org/keywords/phenotype |
| keywords[9].score | 0.18874242901802063 |
| keywords[9].display_name | Phenotype |
| keywords[10].id | https://openalex.org/keywords/gene |
| keywords[10].score | 0.15755295753479004 |
| keywords[10].display_name | Gene |
| keywords[11].id | https://openalex.org/keywords/fetus |
| keywords[11].score | 0.12560734152793884 |
| keywords[11].display_name | Fetus |
| keywords[12].id | https://openalex.org/keywords/psychiatry |
| keywords[12].score | 0.08239808678627014 |
| keywords[12].display_name | Psychiatry |
| language | en |
| locations[0].id | doi:10.1093/brain/awad405 |
| locations[0].is_oa | False |
| locations[0].source.id | https://openalex.org/S118357697 |
| locations[0].source.issn | 0006-8950, 1460-2156 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | False |
| locations[0].source.issn_l | 0006-8950 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | False |
| locations[0].source.display_name | Brain |
| locations[0].source.host_organization | https://openalex.org/P4310311648 |
| locations[0].source.host_organization_name | Oxford University Press |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310311648, https://openalex.org/P4310311647 |
| locations[0].source.host_organization_lineage_names | Oxford University Press, University of Oxford |
| locations[0].license | |
| locations[0].pdf_url | |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | Brain |
| locations[0].landing_page_url | https://doi.org/10.1093/brain/awad405 |
| locations[1].id | pmid:38128548 |
| locations[1].is_oa | False |
| locations[1].source.id | https://openalex.org/S4306525036 |
| locations[1].source.issn | |
| locations[1].source.type | repository |
| locations[1].source.is_oa | False |
| locations[1].source.issn_l | |
| locations[1].source.is_core | False |
| locations[1].source.is_in_doaj | False |
| locations[1].source.display_name | PubMed |
| locations[1].source.host_organization | https://openalex.org/I1299303238 |
| locations[1].source.host_organization_name | National Institutes of Health |
| locations[1].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[1].license | |
| locations[1].pdf_url | |
| locations[1].version | publishedVersion |
| locations[1].raw_type | |
| locations[1].license_id | |
| locations[1].is_accepted | True |
| locations[1].is_published | True |
| locations[1].raw_source_name | Brain : a journal of neurology |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/38128548 |
| locations[2].id | pmh:oai:pubmedcentral.nih.gov:10994532 |
| locations[2].is_oa | True |
| locations[2].source.id | https://openalex.org/S2764455111 |
| locations[2].source.issn | |
| locations[2].source.type | repository |
| locations[2].source.is_oa | False |
| locations[2].source.issn_l | |
| locations[2].source.is_core | False |
| locations[2].source.is_in_doaj | False |
| locations[2].source.display_name | PubMed Central |
| locations[2].source.host_organization | https://openalex.org/I1299303238 |
| locations[2].source.host_organization_name | National Institutes of Health |
| locations[2].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[2].license | |
| locations[2].pdf_url | |
| locations[2].version | submittedVersion |
| locations[2].raw_type | Text |
| locations[2].license_id | |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | Brain |
| locations[2].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/10994532 |
| indexed_in | crossref, pubmed |
| authorships[0].author.id | https://openalex.org/A5101938103 |
| authorships[0].author.orcid | https://orcid.org/0000-0002-2475-9797 |
| authorships[0].author.display_name | Amrita Singh |
| authorships[0].countries | US |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I136199984, https://openalex.org/I4210087915 |
| authorships[0].affiliations[0].raw_affiliation_string | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA |
| authorships[0].affiliations[1].institution_ids | https://openalex.org/I32971472 |
| authorships[0].affiliations[1].raw_affiliation_string | Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[0].institutions[0].id | https://openalex.org/I136199984 |
| authorships[0].institutions[0].ror | https://ror.org/03vek6s52 |
| authorships[0].institutions[0].type | education |
| authorships[0].institutions[0].lineage | https://openalex.org/I136199984 |
| authorships[0].institutions[0].country_code | US |
| authorships[0].institutions[0].display_name | Harvard University |
| authorships[0].institutions[1].id | https://openalex.org/I4210087915 |
| authorships[0].institutions[1].ror | https://ror.org/002pd6e78 |
| authorships[0].institutions[1].type | healthcare |
| authorships[0].institutions[1].lineage | https://openalex.org/I4210087915, https://openalex.org/I48633490 |
| authorships[0].institutions[1].country_code | US |
| authorships[0].institutions[1].display_name | Massachusetts General Hospital |
| authorships[0].institutions[2].id | https://openalex.org/I32971472 |
| authorships[0].institutions[2].ror | https://ror.org/03v76x132 |
| authorships[0].institutions[2].type | education |
| authorships[0].institutions[2].lineage | https://openalex.org/I32971472 |
| authorships[0].institutions[2].country_code | US |
| authorships[0].institutions[2].display_name | Yale University |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Amrita K Singh |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA, Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[1].author.id | https://openalex.org/A5047830755 |
| authorships[1].author.orcid | https://orcid.org/0000-0002-5458-6129 |
| authorships[1].author.display_name | Garrett Allington |
| authorships[1].countries | US |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I32971472 |
| authorships[1].affiliations[0].raw_affiliation_string | Department of Genetics, Yale University , New Haven, CT 06510 , USA |
| authorships[1].affiliations[1].institution_ids | https://openalex.org/I32971472 |
| authorships[1].affiliations[1].raw_affiliation_string | Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[1].affiliations[2].institution_ids | https://openalex.org/I136199984, https://openalex.org/I4210087915 |
| authorships[1].affiliations[2].raw_affiliation_string | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA |
| authorships[1].institutions[0].id | https://openalex.org/I136199984 |
| authorships[1].institutions[0].ror | https://ror.org/03vek6s52 |
| authorships[1].institutions[0].type | education |
| authorships[1].institutions[0].lineage | https://openalex.org/I136199984 |
| authorships[1].institutions[0].country_code | US |
| authorships[1].institutions[0].display_name | Harvard University |
| authorships[1].institutions[1].id | https://openalex.org/I4210087915 |
| authorships[1].institutions[1].ror | https://ror.org/002pd6e78 |
| authorships[1].institutions[1].type | healthcare |
| authorships[1].institutions[1].lineage | https://openalex.org/I4210087915, https://openalex.org/I48633490 |
| authorships[1].institutions[1].country_code | US |
| authorships[1].institutions[1].display_name | Massachusetts General Hospital |
| authorships[1].institutions[2].id | https://openalex.org/I32971472 |
| authorships[1].institutions[2].ror | https://ror.org/03v76x132 |
| authorships[1].institutions[2].type | education |
| authorships[1].institutions[2].lineage | https://openalex.org/I32971472 |
| authorships[1].institutions[2].country_code | US |
| authorships[1].institutions[2].display_name | Yale University |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Garrett Allington |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Department of Genetics, Yale University , New Haven, CT 06510 , USA, Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA, Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[2].author.id | https://openalex.org/A5016703528 |
| authorships[2].author.orcid | https://orcid.org/0000-0003-2059-4531 |
| authorships[2].author.display_name | Stephen Viviano |
| authorships[2].countries | US |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I32971472 |
| authorships[2].affiliations[0].raw_affiliation_string | Department of Pediatrics, Yale University , New Haven, CT 06510 , USA |
| authorships[2].institutions[0].id | https://openalex.org/I32971472 |
| authorships[2].institutions[0].ror | https://ror.org/03v76x132 |
| authorships[2].institutions[0].type | education |
| authorships[2].institutions[0].lineage | https://openalex.org/I32971472 |
| authorships[2].institutions[0].country_code | US |
| authorships[2].institutions[0].display_name | Yale University |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Stephen Viviano |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Department of Pediatrics, Yale University , New Haven, CT 06510 , USA |
| authorships[3].author.id | https://openalex.org/A5077984553 |
| authorships[3].author.orcid | https://orcid.org/0000-0003-3553-0354 |
| authorships[3].author.display_name | Stephen McGee |
| authorships[3].affiliations[0].raw_affiliation_string | GeneDx , Gaithersburg, MD 20877 , USA |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Stephen McGee |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | GeneDx , Gaithersburg, MD 20877 , USA |
| authorships[4].author.id | https://openalex.org/A5077543967 |
| authorships[4].author.orcid | |
| authorships[4].author.display_name | Emre Kiziltug |
| authorships[4].countries | US |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I136199984, https://openalex.org/I4210087915 |
| authorships[4].affiliations[0].raw_affiliation_string | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA |
| authorships[4].affiliations[1].institution_ids | https://openalex.org/I32971472 |
| authorships[4].affiliations[1].raw_affiliation_string | Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[4].institutions[0].id | https://openalex.org/I136199984 |
| authorships[4].institutions[0].ror | https://ror.org/03vek6s52 |
| authorships[4].institutions[0].type | education |
| authorships[4].institutions[0].lineage | https://openalex.org/I136199984 |
| authorships[4].institutions[0].country_code | US |
| authorships[4].institutions[0].display_name | Harvard University |
| authorships[4].institutions[1].id | https://openalex.org/I4210087915 |
| authorships[4].institutions[1].ror | https://ror.org/002pd6e78 |
| authorships[4].institutions[1].type | healthcare |
| authorships[4].institutions[1].lineage | https://openalex.org/I4210087915, https://openalex.org/I48633490 |
| authorships[4].institutions[1].country_code | US |
| authorships[4].institutions[1].display_name | Massachusetts General Hospital |
| authorships[4].institutions[2].id | https://openalex.org/I32971472 |
| authorships[4].institutions[2].ror | https://ror.org/03v76x132 |
| authorships[4].institutions[2].type | education |
| authorships[4].institutions[2].lineage | https://openalex.org/I32971472 |
| authorships[4].institutions[2].country_code | US |
| authorships[4].institutions[2].display_name | Yale University |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Emre Kiziltug |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA, Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[5].author.id | https://openalex.org/A5011268118 |
| authorships[5].author.orcid | https://orcid.org/0000-0002-8782-3047 |
| authorships[5].author.display_name | Shaojie Ma |
| authorships[5].countries | US |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I32971472 |
| authorships[5].affiliations[0].raw_affiliation_string | Department of Genetics, Yale University , New Haven, CT 06510 , USA |
| authorships[5].affiliations[1].institution_ids | https://openalex.org/I32971472 |
| authorships[5].affiliations[1].raw_affiliation_string | Department of Neuroscience, Yale University , New Haven, CT 06510 , USA |
| authorships[5].institutions[0].id | https://openalex.org/I32971472 |
| authorships[5].institutions[0].ror | https://ror.org/03v76x132 |
| authorships[5].institutions[0].type | education |
| authorships[5].institutions[0].lineage | https://openalex.org/I32971472 |
| authorships[5].institutions[0].country_code | US |
| authorships[5].institutions[0].display_name | Yale University |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Shaojie Ma |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Department of Genetics, Yale University , New Haven, CT 06510 , USA, Department of Neuroscience, Yale University , New Haven, CT 06510 , USA |
| authorships[6].author.id | https://openalex.org/A5001881299 |
| authorships[6].author.orcid | https://orcid.org/0000-0003-0248-0119 |
| authorships[6].author.display_name | Shujuan Zhao |
| authorships[6].countries | US |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I204465549 |
| authorships[6].affiliations[0].raw_affiliation_string | Departments of Genetics and Pediatrics, Washington University School of Medicine, St Louis, Missouri, 63110, USA |
| authorships[6].affiliations[1].institution_ids | https://openalex.org/I136199984, https://openalex.org/I4210087915 |
| authorships[6].affiliations[1].raw_affiliation_string | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA |
| authorships[6].institutions[0].id | https://openalex.org/I136199984 |
| authorships[6].institutions[0].ror | https://ror.org/03vek6s52 |
| authorships[6].institutions[0].type | education |
| authorships[6].institutions[0].lineage | https://openalex.org/I136199984 |
| authorships[6].institutions[0].country_code | US |
| authorships[6].institutions[0].display_name | Harvard University |
| authorships[6].institutions[1].id | https://openalex.org/I4210087915 |
| authorships[6].institutions[1].ror | https://ror.org/002pd6e78 |
| authorships[6].institutions[1].type | healthcare |
| authorships[6].institutions[1].lineage | https://openalex.org/I4210087915, https://openalex.org/I48633490 |
| authorships[6].institutions[1].country_code | US |
| authorships[6].institutions[1].display_name | Massachusetts General Hospital |
| authorships[6].institutions[2].id | https://openalex.org/I204465549 |
| authorships[6].institutions[2].ror | https://ror.org/01yc7t268 |
| authorships[6].institutions[2].type | education |
| authorships[6].institutions[2].lineage | https://openalex.org/I204465549 |
| authorships[6].institutions[2].country_code | US |
| authorships[6].institutions[2].display_name | Washington University in St. Louis |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Shujuan Zhao |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA, Departments of Genetics and Pediatrics, Washington University School of Medicine, St Louis, Missouri, 63110, USA |
| authorships[7].author.id | https://openalex.org/A5089242485 |
| authorships[7].author.orcid | https://orcid.org/0000-0003-2508-387X |
| authorships[7].author.display_name | Kedous Y. Mekbib |
| authorships[7].countries | US |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I136199984, https://openalex.org/I4210087915 |
| authorships[7].affiliations[0].raw_affiliation_string | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA |
| authorships[7].affiliations[1].institution_ids | https://openalex.org/I32971472 |
| authorships[7].affiliations[1].raw_affiliation_string | Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[7].institutions[0].id | https://openalex.org/I136199984 |
| authorships[7].institutions[0].ror | https://ror.org/03vek6s52 |
| authorships[7].institutions[0].type | education |
| authorships[7].institutions[0].lineage | https://openalex.org/I136199984 |
| authorships[7].institutions[0].country_code | US |
| authorships[7].institutions[0].display_name | Harvard University |
| authorships[7].institutions[1].id | https://openalex.org/I4210087915 |
| authorships[7].institutions[1].ror | https://ror.org/002pd6e78 |
| authorships[7].institutions[1].type | healthcare |
| authorships[7].institutions[1].lineage | https://openalex.org/I4210087915, https://openalex.org/I48633490 |
| authorships[7].institutions[1].country_code | US |
| authorships[7].institutions[1].display_name | Massachusetts General Hospital |
| authorships[7].institutions[2].id | https://openalex.org/I32971472 |
| authorships[7].institutions[2].ror | https://ror.org/03v76x132 |
| authorships[7].institutions[2].type | education |
| authorships[7].institutions[2].lineage | https://openalex.org/I32971472 |
| authorships[7].institutions[2].country_code | US |
| authorships[7].institutions[2].display_name | Yale University |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Kedous Y Mekbib |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA, Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[8].author.id | https://openalex.org/A5081024688 |
| authorships[8].author.orcid | |
| authorships[8].author.display_name | John Shohfi |
| authorships[8].countries | US |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I136199984, https://openalex.org/I4210087915 |
| authorships[8].affiliations[0].raw_affiliation_string | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA |
| authorships[8].affiliations[1].institution_ids | https://openalex.org/I32971472 |
| authorships[8].affiliations[1].raw_affiliation_string | Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[8].institutions[0].id | https://openalex.org/I136199984 |
| authorships[8].institutions[0].ror | https://ror.org/03vek6s52 |
| authorships[8].institutions[0].type | education |
| authorships[8].institutions[0].lineage | https://openalex.org/I136199984 |
| authorships[8].institutions[0].country_code | US |
| authorships[8].institutions[0].display_name | Harvard University |
| authorships[8].institutions[1].id | https://openalex.org/I4210087915 |
| authorships[8].institutions[1].ror | https://ror.org/002pd6e78 |
| authorships[8].institutions[1].type | healthcare |
| authorships[8].institutions[1].lineage | https://openalex.org/I4210087915, https://openalex.org/I48633490 |
| authorships[8].institutions[1].country_code | US |
| authorships[8].institutions[1].display_name | Massachusetts General Hospital |
| authorships[8].institutions[2].id | https://openalex.org/I32971472 |
| authorships[8].institutions[2].ror | https://ror.org/03v76x132 |
| authorships[8].institutions[2].type | education |
| authorships[8].institutions[2].lineage | https://openalex.org/I32971472 |
| authorships[8].institutions[2].country_code | US |
| authorships[8].institutions[2].display_name | Yale University |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | John P Shohfi |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA, Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[9].author.id | https://openalex.org/A5085777770 |
| authorships[9].author.orcid | https://orcid.org/0000-0002-4513-7348 |
| authorships[9].author.display_name | Phan Q. Duy |
| authorships[9].countries | US |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I32971472 |
| authorships[9].affiliations[0].raw_affiliation_string | Department of Neuroscience, Yale University , New Haven, CT 06510 , USA |
| authorships[9].affiliations[1].institution_ids | https://openalex.org/I32971472 |
| authorships[9].affiliations[1].raw_affiliation_string | Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[9].affiliations[2].institution_ids | https://openalex.org/I136199984, https://openalex.org/I4210087915 |
| authorships[9].affiliations[2].raw_affiliation_string | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA |
| authorships[9].institutions[0].id | https://openalex.org/I136199984 |
| authorships[9].institutions[0].ror | https://ror.org/03vek6s52 |
| authorships[9].institutions[0].type | education |
| authorships[9].institutions[0].lineage | https://openalex.org/I136199984 |
| authorships[9].institutions[0].country_code | US |
| authorships[9].institutions[0].display_name | Harvard University |
| authorships[9].institutions[1].id | https://openalex.org/I4210087915 |
| authorships[9].institutions[1].ror | https://ror.org/002pd6e78 |
| authorships[9].institutions[1].type | healthcare |
| authorships[9].institutions[1].lineage | https://openalex.org/I4210087915, https://openalex.org/I48633490 |
| authorships[9].institutions[1].country_code | US |
| authorships[9].institutions[1].display_name | Massachusetts General Hospital |
| authorships[9].institutions[2].id | https://openalex.org/I32971472 |
| authorships[9].institutions[2].ror | https://ror.org/03v76x132 |
| authorships[9].institutions[2].type | education |
| authorships[9].institutions[2].lineage | https://openalex.org/I32971472 |
| authorships[9].institutions[2].country_code | US |
| authorships[9].institutions[2].display_name | Yale University |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Phan Q Duy |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Department of Neuroscience, Yale University , New Haven, CT 06510 , USA, Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA, Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[10].author.id | https://openalex.org/A5008246191 |
| authorships[10].author.orcid | https://orcid.org/0000-0002-3789-6440 |
| authorships[10].author.display_name | Tyrone DeSpenza |
| authorships[10].countries | US |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I32971472 |
| authorships[10].affiliations[0].raw_affiliation_string | Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[10].affiliations[1].institution_ids | https://openalex.org/I32971472 |
| authorships[10].affiliations[1].raw_affiliation_string | Department of Neuroscience, Yale University , New Haven, CT 06510 , USA |
| authorships[10].affiliations[2].institution_ids | https://openalex.org/I136199984, https://openalex.org/I4210087915 |
| authorships[10].affiliations[2].raw_affiliation_string | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA |
| authorships[10].institutions[0].id | https://openalex.org/I136199984 |
| authorships[10].institutions[0].ror | https://ror.org/03vek6s52 |
| authorships[10].institutions[0].type | education |
| authorships[10].institutions[0].lineage | https://openalex.org/I136199984 |
| authorships[10].institutions[0].country_code | US |
| authorships[10].institutions[0].display_name | Harvard University |
| authorships[10].institutions[1].id | https://openalex.org/I4210087915 |
| authorships[10].institutions[1].ror | https://ror.org/002pd6e78 |
| authorships[10].institutions[1].type | healthcare |
| authorships[10].institutions[1].lineage | https://openalex.org/I4210087915, https://openalex.org/I48633490 |
| authorships[10].institutions[1].country_code | US |
| authorships[10].institutions[1].display_name | Massachusetts General Hospital |
| authorships[10].institutions[2].id | https://openalex.org/I32971472 |
| authorships[10].institutions[2].ror | https://ror.org/03v76x132 |
| authorships[10].institutions[2].type | education |
| authorships[10].institutions[2].lineage | https://openalex.org/I32971472 |
| authorships[10].institutions[2].country_code | US |
| authorships[10].institutions[2].display_name | Yale University |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Tyrone DeSpenza |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | Department of Neuroscience, Yale University , New Haven, CT 06510 , USA, Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA, Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[11].author.id | https://openalex.org/A5074110191 |
| authorships[11].author.orcid | https://orcid.org/0000-0003-3313-2563 |
| authorships[11].author.display_name | Charuta G. Furey |
| authorships[11].countries | US |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I32971472 |
| authorships[11].affiliations[0].raw_affiliation_string | Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[11].institutions[0].id | https://openalex.org/I32971472 |
| authorships[11].institutions[0].ror | https://ror.org/03v76x132 |
| authorships[11].institutions[0].type | education |
| authorships[11].institutions[0].lineage | https://openalex.org/I32971472 |
| authorships[11].institutions[0].country_code | US |
| authorships[11].institutions[0].display_name | Yale University |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Charuta G Furey |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[12].author.id | https://openalex.org/A5077596043 |
| authorships[12].author.orcid | https://orcid.org/0000-0002-5924-6991 |
| authorships[12].author.display_name | Benjamin C. Reeves |
| authorships[12].countries | US |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I32971472 |
| authorships[12].affiliations[0].raw_affiliation_string | Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[12].affiliations[1].institution_ids | https://openalex.org/I136199984, https://openalex.org/I4210087915 |
| authorships[12].affiliations[1].raw_affiliation_string | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA |
| authorships[12].institutions[0].id | https://openalex.org/I136199984 |
| authorships[12].institutions[0].ror | https://ror.org/03vek6s52 |
| authorships[12].institutions[0].type | education |
| authorships[12].institutions[0].lineage | https://openalex.org/I136199984 |
| authorships[12].institutions[0].country_code | US |
| authorships[12].institutions[0].display_name | Harvard University |
| authorships[12].institutions[1].id | https://openalex.org/I4210087915 |
| authorships[12].institutions[1].ror | https://ror.org/002pd6e78 |
| authorships[12].institutions[1].type | healthcare |
| authorships[12].institutions[1].lineage | https://openalex.org/I4210087915, https://openalex.org/I48633490 |
| authorships[12].institutions[1].country_code | US |
| authorships[12].institutions[1].display_name | Massachusetts General Hospital |
| authorships[12].institutions[2].id | https://openalex.org/I32971472 |
| authorships[12].institutions[2].ror | https://ror.org/03v76x132 |
| authorships[12].institutions[2].type | education |
| authorships[12].institutions[2].lineage | https://openalex.org/I32971472 |
| authorships[12].institutions[2].country_code | US |
| authorships[12].institutions[2].display_name | Yale University |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | Benjamin C Reeves |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA, Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[13].author.id | https://openalex.org/A5026676951 |
| authorships[13].author.orcid | https://orcid.org/0000-0003-3670-5881 |
| authorships[13].author.display_name | Hannah Smith |
| authorships[13].countries | US |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I136199984, https://openalex.org/I4210087915 |
| authorships[13].affiliations[0].raw_affiliation_string | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA |
| authorships[13].affiliations[1].institution_ids | https://openalex.org/I32971472 |
| authorships[13].affiliations[1].raw_affiliation_string | Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[13].institutions[0].id | https://openalex.org/I136199984 |
| authorships[13].institutions[0].ror | https://ror.org/03vek6s52 |
| authorships[13].institutions[0].type | education |
| authorships[13].institutions[0].lineage | https://openalex.org/I136199984 |
| authorships[13].institutions[0].country_code | US |
| authorships[13].institutions[0].display_name | Harvard University |
| authorships[13].institutions[1].id | https://openalex.org/I4210087915 |
| authorships[13].institutions[1].ror | https://ror.org/002pd6e78 |
| authorships[13].institutions[1].type | healthcare |
| authorships[13].institutions[1].lineage | https://openalex.org/I4210087915, https://openalex.org/I48633490 |
| authorships[13].institutions[1].country_code | US |
| authorships[13].institutions[1].display_name | Massachusetts General Hospital |
| authorships[13].institutions[2].id | https://openalex.org/I32971472 |
| authorships[13].institutions[2].ror | https://ror.org/03v76x132 |
| authorships[13].institutions[2].type | education |
| authorships[13].institutions[2].lineage | https://openalex.org/I32971472 |
| authorships[13].institutions[2].country_code | US |
| authorships[13].institutions[2].display_name | Yale University |
| authorships[13].author_position | middle |
| authorships[13].raw_author_name | Hannah Smith |
| authorships[13].is_corresponding | False |
| authorships[13].raw_affiliation_strings | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA, Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[14].author.id | https://openalex.org/A5088177310 |
| authorships[14].author.orcid | https://orcid.org/0000-0003-1740-5066 |
| authorships[14].author.display_name | André M. M. Sousa |
| authorships[14].countries | US |
| authorships[14].affiliations[0].institution_ids | https://openalex.org/I135310074 |
| authorships[14].affiliations[0].raw_affiliation_string | Waisman Center, University of Wisconsin-Madison , Madison, WI 53705 , USA |
| authorships[14].institutions[0].id | https://openalex.org/I135310074 |
| authorships[14].institutions[0].ror | https://ror.org/01y2jtd41 |
| authorships[14].institutions[0].type | education |
| authorships[14].institutions[0].lineage | https://openalex.org/I135310074 |
| authorships[14].institutions[0].country_code | US |
| authorships[14].institutions[0].display_name | University of Wisconsin–Madison |
| authorships[14].author_position | middle |
| authorships[14].raw_author_name | André M M Sousa |
| authorships[14].is_corresponding | False |
| authorships[14].raw_affiliation_strings | Waisman Center, University of Wisconsin-Madison , Madison, WI 53705 , USA |
| authorships[15].author.id | https://openalex.org/A5078503797 |
| authorships[15].author.orcid | https://orcid.org/0000-0002-9905-2665 |
| authorships[15].author.display_name | Adriana Cherskov |
| authorships[15].countries | US |
| authorships[15].affiliations[0].institution_ids | https://openalex.org/I32971472 |
| authorships[15].affiliations[0].raw_affiliation_string | Department of Neuroscience, Yale University , New Haven, CT 06510 , USA |
| authorships[15].institutions[0].id | https://openalex.org/I32971472 |
| authorships[15].institutions[0].ror | https://ror.org/03v76x132 |
| authorships[15].institutions[0].type | education |
| authorships[15].institutions[0].lineage | https://openalex.org/I32971472 |
| authorships[15].institutions[0].country_code | US |
| authorships[15].institutions[0].display_name | Yale University |
| authorships[15].author_position | middle |
| authorships[15].raw_author_name | Adriana Cherskov |
| authorships[15].is_corresponding | False |
| authorships[15].raw_affiliation_strings | Department of Neuroscience, Yale University , New Haven, CT 06510 , USA |
| authorships[16].author.id | https://openalex.org/A5060941426 |
| authorships[16].author.orcid | https://orcid.org/0000-0003-3395-6044 |
| authorships[16].author.display_name | August Allocco |
| authorships[16].countries | US |
| authorships[16].affiliations[0].institution_ids | https://openalex.org/I32971472 |
| authorships[16].affiliations[0].raw_affiliation_string | Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[16].institutions[0].id | https://openalex.org/I32971472 |
| authorships[16].institutions[0].ror | https://ror.org/03v76x132 |
| authorships[16].institutions[0].type | education |
| authorships[16].institutions[0].lineage | https://openalex.org/I32971472 |
| authorships[16].institutions[0].country_code | US |
| authorships[16].institutions[0].display_name | Yale University |
| authorships[16].author_position | middle |
| authorships[16].raw_author_name | August Allocco |
| authorships[16].is_corresponding | False |
| authorships[16].raw_affiliation_strings | Department of Neurosurgery, Yale University , New Haven, CT 06510 , USA |
| authorships[17].author.id | https://openalex.org/A5034442407 |
| authorships[17].author.orcid | https://orcid.org/0000-0003-0768-4751 |
| authorships[17].author.display_name | Carol Nelson‐Williams |
| authorships[17].countries | US |
| authorships[17].affiliations[0].institution_ids | https://openalex.org/I32971472 |
| authorships[17].affiliations[0].raw_affiliation_string | Department of Genetics, Yale University , New Haven, CT 06510 , USA |
| authorships[17].institutions[0].id | https://openalex.org/I32971472 |
| authorships[17].institutions[0].ror | https://ror.org/03v76x132 |
| authorships[17].institutions[0].type | education |
| authorships[17].institutions[0].lineage | https://openalex.org/I32971472 |
| authorships[17].institutions[0].country_code | US |
| authorships[17].institutions[0].display_name | Yale University |
| authorships[17].author_position | middle |
| authorships[17].raw_author_name | Carol Nelson-Williams |
| authorships[17].is_corresponding | False |
| authorships[17].raw_affiliation_strings | Department of Genetics, Yale University , New Haven, CT 06510 , USA |
| authorships[18].author.id | https://openalex.org/A5037269329 |
| authorships[18].author.orcid | https://orcid.org/0000-0003-2650-2925 |
| authorships[18].author.display_name | Shozeb Haider |
| authorships[18].countries | GB |
| authorships[18].affiliations[0].institution_ids | https://openalex.org/I45129253 |
| authorships[18].affiliations[0].raw_affiliation_string | UCL Centre for Advanced Research Computing, University College London , London, WC1H 9RN , UK |
| authorships[18].affiliations[1].institution_ids | https://openalex.org/I45129253 |
| authorships[18].affiliations[1].raw_affiliation_string | Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy , London, WC1N 1AX , UK |
| authorships[18].institutions[0].id | https://openalex.org/I45129253 |
| authorships[18].institutions[0].ror | https://ror.org/02jx3x895 |
| authorships[18].institutions[0].type | education |
| authorships[18].institutions[0].lineage | https://openalex.org/I124357947, https://openalex.org/I45129253 |
| authorships[18].institutions[0].country_code | GB |
| authorships[18].institutions[0].display_name | University College London |
| authorships[18].author_position | middle |
| authorships[18].raw_author_name | Shozeb Haider |
| authorships[18].is_corresponding | False |
| authorships[18].raw_affiliation_strings | Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy , London, WC1N 1AX , UK, UCL Centre for Advanced Research Computing, University College London , London, WC1H 9RN , UK |
| authorships[19].author.id | https://openalex.org/A5112943041 |
| authorships[19].author.orcid | |
| authorships[19].author.display_name | Syed R A Rizvi |
| authorships[19].countries | GB |
| authorships[19].affiliations[0].institution_ids | https://openalex.org/I45129253 |
| authorships[19].affiliations[0].raw_affiliation_string | Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy , London, WC1N 1AX , UK |
| authorships[19].institutions[0].id | https://openalex.org/I45129253 |
| authorships[19].institutions[0].ror | https://ror.org/02jx3x895 |
| authorships[19].institutions[0].type | education |
| authorships[19].institutions[0].lineage | https://openalex.org/I124357947, https://openalex.org/I45129253 |
| authorships[19].institutions[0].country_code | GB |
| authorships[19].institutions[0].display_name | University College London |
| authorships[19].author_position | middle |
| authorships[19].raw_author_name | Syed R A Rizvi |
| authorships[19].is_corresponding | False |
| authorships[19].raw_affiliation_strings | Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy , London, WC1N 1AX , UK |
| authorships[20].author.id | https://openalex.org/A5014312110 |
| authorships[20].author.orcid | https://orcid.org/0000-0002-6228-2512 |
| authorships[20].author.display_name | Seth L. Alper |
| authorships[20].countries | US |
| authorships[20].affiliations[0].institution_ids | https://openalex.org/I1316535847 |
| authorships[20].affiliations[0].raw_affiliation_string | Division of Nephrology and Vascular Biology Research Center, Beth Israel Deaconess Medical Center , Boston, MA 02215 , USA |
| authorships[20].affiliations[1].institution_ids | https://openalex.org/I107606265 |
| authorships[20].affiliations[1].raw_affiliation_string | Division of Genetics, Broad Institute of MIT and Harvard , Cambridge, MA 02142 , USA |
| authorships[20].affiliations[2].institution_ids | https://openalex.org/I136199984 |
| authorships[20].affiliations[2].raw_affiliation_string | Department of Medicine, Harvard Medical School , Boston, MA 02115 , USA |
| authorships[20].institutions[0].id | https://openalex.org/I1316535847 |
| authorships[20].institutions[0].ror | https://ror.org/04drvxt59 |
| authorships[20].institutions[0].type | healthcare |
| authorships[20].institutions[0].lineage | https://openalex.org/I1316535847 |
| authorships[20].institutions[0].country_code | US |
| authorships[20].institutions[0].display_name | Beth Israel Deaconess Medical Center |
| authorships[20].institutions[1].id | https://openalex.org/I107606265 |
| authorships[20].institutions[1].ror | https://ror.org/05a0ya142 |
| authorships[20].institutions[1].type | nonprofit |
| authorships[20].institutions[1].lineage | https://openalex.org/I107606265 |
| authorships[20].institutions[1].country_code | US |
| authorships[20].institutions[1].display_name | Broad Institute |
| authorships[20].institutions[2].id | https://openalex.org/I136199984 |
| authorships[20].institutions[2].ror | https://ror.org/03vek6s52 |
| authorships[20].institutions[2].type | education |
| authorships[20].institutions[2].lineage | https://openalex.org/I136199984 |
| authorships[20].institutions[2].country_code | US |
| authorships[20].institutions[2].display_name | Harvard University |
| authorships[20].author_position | middle |
| authorships[20].raw_author_name | Seth L Alper |
| authorships[20].is_corresponding | False |
| authorships[20].raw_affiliation_strings | Department of Medicine, Harvard Medical School , Boston, MA 02115 , USA, Division of Genetics, Broad Institute of MIT and Harvard , Cambridge, MA 02142 , USA, Division of Nephrology and Vascular Biology Research Center, Beth Israel Deaconess Medical Center , Boston, MA 02215 , USA |
| authorships[21].author.id | https://openalex.org/A5026436089 |
| authorships[21].author.orcid | https://orcid.org/0000-0003-0966-9619 |
| authorships[21].author.display_name | Nenad Šestan |
| authorships[21].countries | US |
| authorships[21].affiliations[0].institution_ids | https://openalex.org/I32971472 |
| authorships[21].affiliations[0].raw_affiliation_string | Department of Pediatrics, Yale University , New Haven, CT 06510 , USA |
| authorships[21].affiliations[1].institution_ids | https://openalex.org/I32971472 |
| authorships[21].affiliations[1].raw_affiliation_string | Department of Genetics, Yale University , New Haven, CT 06510 , USA |
| authorships[21].institutions[0].id | https://openalex.org/I32971472 |
| authorships[21].institutions[0].ror | https://ror.org/03v76x132 |
| authorships[21].institutions[0].type | education |
| authorships[21].institutions[0].lineage | https://openalex.org/I32971472 |
| authorships[21].institutions[0].country_code | US |
| authorships[21].institutions[0].display_name | Yale University |
| authorships[21].author_position | middle |
| authorships[21].raw_author_name | Nenad Sestan |
| authorships[21].is_corresponding | False |
| authorships[21].raw_affiliation_strings | Department of Genetics, Yale University , New Haven, CT 06510 , USA, Department of Pediatrics, Yale University , New Haven, CT 06510 , USA |
| authorships[22].author.id | https://openalex.org/A5044134713 |
| authorships[22].author.orcid | https://orcid.org/0000-0003-1284-8909 |
| authorships[22].author.display_name | Hermela Shimelis |
| authorships[22].countries | CA, US |
| authorships[22].affiliations[0].institution_ids | https://openalex.org/I204722609, https://openalex.org/I4210156381 |
| authorships[22].affiliations[0].raw_affiliation_string | Department of Radiology, Neuroradiology section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences , Kingston, Ontario , Canada |
| authorships[22].affiliations[1].institution_ids | https://openalex.org/I4210098008 |
| authorships[22].affiliations[1].raw_affiliation_string | Autism & Developmental Medicine Institute, Geisinger, Danville, PA, 17822, USA |
| authorships[22].institutions[0].id | https://openalex.org/I4210156381 |
| authorships[22].institutions[0].ror | https://ror.org/05bwaty49 |
| authorships[22].institutions[0].type | healthcare |
| authorships[22].institutions[0].lineage | https://openalex.org/I4210156381 |
| authorships[22].institutions[0].country_code | CA |
| authorships[22].institutions[0].display_name | Kingston Health Sciences Centre |
| authorships[22].institutions[1].id | https://openalex.org/I204722609 |
| authorships[22].institutions[1].ror | https://ror.org/02y72wh86 |
| authorships[22].institutions[1].type | education |
| authorships[22].institutions[1].lineage | https://openalex.org/I204722609 |
| authorships[22].institutions[1].country_code | CA |
| authorships[22].institutions[1].display_name | Queen's University |
| authorships[22].institutions[2].id | https://openalex.org/I4210098008 |
| authorships[22].institutions[2].ror | https://ror.org/00sq30w29 |
| authorships[22].institutions[2].type | facility |
| authorships[22].institutions[2].lineage | https://openalex.org/I4210098008, https://openalex.org/I54713919 |
| authorships[22].institutions[2].country_code | US |
| authorships[22].institutions[2].display_name | Autism & Developmental Medicine Institute |
| authorships[22].author_position | middle |
| authorships[22].raw_author_name | Hermela Shimelis |
| authorships[22].is_corresponding | False |
| authorships[22].raw_affiliation_strings | Autism & Developmental Medicine Institute, Geisinger, Danville, PA, 17822, USA, Department of Radiology, Neuroradiology section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences , Kingston, Ontario , Canada |
| authorships[23].author.id | https://openalex.org/A5112659232 |
| authorships[23].author.orcid | |
| authorships[23].author.display_name | Lauren K. Walsh |
| authorships[23].countries | CA, US |
| authorships[23].affiliations[0].institution_ids | https://openalex.org/I204722609, https://openalex.org/I4210156381 |
| authorships[23].affiliations[0].raw_affiliation_string | Department of Radiology, Neuroradiology section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences , Kingston, Ontario , Canada |
| authorships[23].affiliations[1].institution_ids | https://openalex.org/I4210098008 |
| authorships[23].affiliations[1].raw_affiliation_string | Autism & Developmental Medicine Institute, Geisinger, Danville, PA, 17822, USA |
| authorships[23].institutions[0].id | https://openalex.org/I4210156381 |
| authorships[23].institutions[0].ror | https://ror.org/05bwaty49 |
| authorships[23].institutions[0].type | healthcare |
| authorships[23].institutions[0].lineage | https://openalex.org/I4210156381 |
| authorships[23].institutions[0].country_code | CA |
| authorships[23].institutions[0].display_name | Kingston Health Sciences Centre |
| authorships[23].institutions[1].id | https://openalex.org/I204722609 |
| authorships[23].institutions[1].ror | https://ror.org/02y72wh86 |
| authorships[23].institutions[1].type | education |
| authorships[23].institutions[1].lineage | https://openalex.org/I204722609 |
| authorships[23].institutions[1].country_code | CA |
| authorships[23].institutions[1].display_name | Queen's University |
| authorships[23].institutions[2].id | https://openalex.org/I4210098008 |
| authorships[23].institutions[2].ror | https://ror.org/00sq30w29 |
| authorships[23].institutions[2].type | facility |
| authorships[23].institutions[2].lineage | https://openalex.org/I4210098008, https://openalex.org/I54713919 |
| authorships[23].institutions[2].country_code | US |
| authorships[23].institutions[2].display_name | Autism & Developmental Medicine Institute |
| authorships[23].author_position | middle |
| authorships[23].raw_author_name | Lauren K Walsh |
| authorships[23].is_corresponding | False |
| authorships[23].raw_affiliation_strings | Autism & Developmental Medicine Institute, Geisinger, Danville, PA, 17822, USA, Department of Radiology, Neuroradiology section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences , Kingston, Ontario , Canada |
| authorships[24].author.id | https://openalex.org/A5047765832 |
| authorships[24].author.orcid | https://orcid.org/0000-0002-5745-5984 |
| authorships[24].author.display_name | Richard P. Lifton |
| authorships[24].countries | US |
| authorships[24].affiliations[0].institution_ids | https://openalex.org/I83399316 |
| authorships[24].affiliations[0].raw_affiliation_string | Laboratory of Human Genetics and Genomics, The Rockefeller University , New York, NY 10065 , USA |
| authorships[24].institutions[0].id | https://openalex.org/I83399316 |
| authorships[24].institutions[0].ror | https://ror.org/0420db125 |
| authorships[24].institutions[0].type | education |
| authorships[24].institutions[0].lineage | https://openalex.org/I83399316 |
| authorships[24].institutions[0].country_code | US |
| authorships[24].institutions[0].display_name | Rockefeller University |
| authorships[24].author_position | middle |
| authorships[24].raw_author_name | Richard P Lifton |
| authorships[24].is_corresponding | False |
| authorships[24].raw_affiliation_strings | Laboratory of Human Genetics and Genomics, The Rockefeller University , New York, NY 10065 , USA |
| authorships[25].author.id | https://openalex.org/A5081707971 |
| authorships[25].author.orcid | https://orcid.org/0000-0002-2732-4043 |
| authorships[25].author.display_name | Andrés Moreno-De-Luca |
| authorships[25].countries | CA, US |
| authorships[25].affiliations[0].institution_ids | https://openalex.org/I4210160773 |
| authorships[25].affiliations[0].raw_affiliation_string | Department of Radiology, Diagnostic Medicine Institute, Geisinger , Danville, PA, 17822 , USA |
| authorships[25].affiliations[1].institution_ids | https://openalex.org/I204722609, https://openalex.org/I4210156381 |
| authorships[25].affiliations[1].raw_affiliation_string | Department of Radiology, Neuroradiology section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences , Kingston, Ontario , Canada |
| authorships[25].institutions[0].id | https://openalex.org/I4210156381 |
| authorships[25].institutions[0].ror | https://ror.org/05bwaty49 |
| authorships[25].institutions[0].type | healthcare |
| authorships[25].institutions[0].lineage | https://openalex.org/I4210156381 |
| authorships[25].institutions[0].country_code | CA |
| authorships[25].institutions[0].display_name | Kingston Health Sciences Centre |
| authorships[25].institutions[1].id | https://openalex.org/I204722609 |
| authorships[25].institutions[1].ror | https://ror.org/02y72wh86 |
| authorships[25].institutions[1].type | education |
| authorships[25].institutions[1].lineage | https://openalex.org/I204722609 |
| authorships[25].institutions[1].country_code | CA |
| authorships[25].institutions[1].display_name | Queen's University |
| authorships[25].institutions[2].id | https://openalex.org/I4210160773 |
| authorships[25].institutions[2].ror | https://ror.org/0585yvd38 |
| authorships[25].institutions[2].type | healthcare |
| authorships[25].institutions[2].lineage | https://openalex.org/I4210160773, https://openalex.org/I54713919 |
| authorships[25].institutions[2].country_code | US |
| authorships[25].institutions[2].display_name | Geisinger Neuroscience Institute |
| authorships[25].author_position | middle |
| authorships[25].raw_author_name | Andres Moreno-De-Luca |
| authorships[25].is_corresponding | False |
| authorships[25].raw_affiliation_strings | Department of Radiology, Diagnostic Medicine Institute, Geisinger , Danville, PA, 17822 , USA, Department of Radiology, Neuroradiology section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences , Kingston, Ontario , Canada |
| authorships[26].author.id | https://openalex.org/A5036776618 |
| authorships[26].author.orcid | https://orcid.org/0000-0002-5777-7262 |
| authorships[26].author.display_name | Sheng Chih Jin |
| authorships[26].countries | US |
| authorships[26].affiliations[0].institution_ids | https://openalex.org/I204465549 |
| authorships[26].affiliations[0].raw_affiliation_string | Departments of Genetics and Pediatrics, Washington University School of Medicine, St Louis, Missouri, 63110, USA |
| authorships[26].institutions[0].id | https://openalex.org/I204465549 |
| authorships[26].institutions[0].ror | https://ror.org/01yc7t268 |
| authorships[26].institutions[0].type | education |
| authorships[26].institutions[0].lineage | https://openalex.org/I204465549 |
| authorships[26].institutions[0].country_code | US |
| authorships[26].institutions[0].display_name | Washington University in St. Louis |
| authorships[26].author_position | middle |
| authorships[26].raw_author_name | Sheng Chih Jin |
| authorships[26].is_corresponding | False |
| authorships[26].raw_affiliation_strings | Departments of Genetics and Pediatrics, Washington University School of Medicine, St Louis, Missouri, 63110, USA |
| authorships[27].author.id | https://openalex.org/A5087687382 |
| authorships[27].author.orcid | https://orcid.org/0000-0003-4949-0875 |
| authorships[27].author.display_name | Paul Kruszka |
| authorships[27].affiliations[0].raw_affiliation_string | GeneDx , Gaithersburg, MD 20877 , USA |
| authorships[27].author_position | middle |
| authorships[27].raw_author_name | Paul Kruszka |
| authorships[27].is_corresponding | False |
| authorships[27].raw_affiliation_strings | GeneDx , Gaithersburg, MD 20877 , USA |
| authorships[28].author.id | https://openalex.org/A5007051253 |
| authorships[28].author.orcid | https://orcid.org/0000-0002-2999-0429 |
| authorships[28].author.display_name | Engin Deniz |
| authorships[28].countries | US |
| authorships[28].affiliations[0].institution_ids | https://openalex.org/I32971472 |
| authorships[28].affiliations[0].raw_affiliation_string | Department of Pediatrics, Yale University , New Haven, CT 06510 , USA |
| authorships[28].institutions[0].id | https://openalex.org/I32971472 |
| authorships[28].institutions[0].ror | https://ror.org/03v76x132 |
| authorships[28].institutions[0].type | education |
| authorships[28].institutions[0].lineage | https://openalex.org/I32971472 |
| authorships[28].institutions[0].country_code | US |
| authorships[28].institutions[0].display_name | Yale University |
| authorships[28].author_position | middle |
| authorships[28].raw_author_name | Engin Deniz |
| authorships[28].is_corresponding | False |
| authorships[28].raw_affiliation_strings | Department of Pediatrics, Yale University , New Haven, CT 06510 , USA |
| authorships[29].author.id | https://openalex.org/A5058936141 |
| authorships[29].author.orcid | https://orcid.org/0000-0002-5922-7547 |
| authorships[29].author.display_name | Kristopher T. Kahle |
| authorships[29].countries | US |
| authorships[29].affiliations[0].institution_ids | https://openalex.org/I1288882113 |
| authorships[29].affiliations[0].raw_affiliation_string | Division of Genetics and Genomics, Boston Children's Hospital , Boston, MA 02115 , USA |
| authorships[29].affiliations[1].institution_ids | https://openalex.org/I136199984, https://openalex.org/I4210087915 |
| authorships[29].affiliations[1].raw_affiliation_string | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA |
| authorships[29].affiliations[2].institution_ids | https://openalex.org/I107606265 |
| authorships[29].affiliations[2].raw_affiliation_string | Division of Genetics, Broad Institute of MIT and Harvard , Cambridge, MA 02142 , USA |
| authorships[29].institutions[0].id | https://openalex.org/I1288882113 |
| authorships[29].institutions[0].ror | https://ror.org/00dvg7y05 |
| authorships[29].institutions[0].type | healthcare |
| authorships[29].institutions[0].lineage | https://openalex.org/I1288882113 |
| authorships[29].institutions[0].country_code | US |
| authorships[29].institutions[0].display_name | Boston Children's Hospital |
| authorships[29].institutions[1].id | https://openalex.org/I107606265 |
| authorships[29].institutions[1].ror | https://ror.org/05a0ya142 |
| authorships[29].institutions[1].type | nonprofit |
| authorships[29].institutions[1].lineage | https://openalex.org/I107606265 |
| authorships[29].institutions[1].country_code | US |
| authorships[29].institutions[1].display_name | Broad Institute |
| authorships[29].institutions[2].id | https://openalex.org/I136199984 |
| authorships[29].institutions[2].ror | https://ror.org/03vek6s52 |
| authorships[29].institutions[2].type | education |
| authorships[29].institutions[2].lineage | https://openalex.org/I136199984 |
| authorships[29].institutions[2].country_code | US |
| authorships[29].institutions[2].display_name | Harvard University |
| authorships[29].institutions[3].id | https://openalex.org/I4210087915 |
| authorships[29].institutions[3].ror | https://ror.org/002pd6e78 |
| authorships[29].institutions[3].type | healthcare |
| authorships[29].institutions[3].lineage | https://openalex.org/I4210087915, https://openalex.org/I48633490 |
| authorships[29].institutions[3].country_code | US |
| authorships[29].institutions[3].display_name | Massachusetts General Hospital |
| authorships[29].author_position | last |
| authorships[29].raw_author_name | Kristopher T Kahle |
| authorships[29].is_corresponding | True |
| authorships[29].raw_affiliation_strings | Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School , Boston, MA 02115 , USA, Division of Genetics and Genomics, Boston Children's Hospital , Boston, MA 02115 , USA, Division of Genetics, Broad Institute of MIT and Harvard , Cambridge, MA 02142 , USA |
| has_content.pdf | False |
| has_content.grobid_xml | False |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://www.ncbi.nlm.nih.gov/pmc/articles/10994532 |
| open_access.oa_status | green |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus |
| has_fulltext | False |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T12820 |
| 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/1312 |
| primary_topic.subfield.display_name | Molecular Biology |
| primary_topic.display_name | Chromatin Remodeling and Cancer |
| related_works | https://openalex.org/W150239898, https://openalex.org/W4321328831, https://openalex.org/W4237958746, https://openalex.org/W2109199245, https://openalex.org/W2796360658, https://openalex.org/W3149602867, https://openalex.org/W2439037633, https://openalex.org/W2383587274, https://openalex.org/W2887317693, https://openalex.org/W3207847642 |
| cited_by_count | 13 |
| counts_by_year[0].year | 2025 |
| counts_by_year[0].cited_by_count | 6 |
| counts_by_year[1].year | 2024 |
| counts_by_year[1].cited_by_count | 7 |
| locations_count | 3 |
| best_oa_location.id | pmh:oai:pubmedcentral.nih.gov:10994532 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S2764455111 |
| best_oa_location.source.issn | |
| best_oa_location.source.type | repository |
| best_oa_location.source.is_oa | False |
| best_oa_location.source.issn_l | |
| best_oa_location.source.is_core | False |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | PubMed Central |
| best_oa_location.source.host_organization | https://openalex.org/I1299303238 |
| best_oa_location.source.host_organization_name | National Institutes of Health |
| best_oa_location.source.host_organization_lineage | https://openalex.org/I1299303238 |
| best_oa_location.license | |
| best_oa_location.pdf_url | |
| best_oa_location.version | submittedVersion |
| best_oa_location.raw_type | Text |
| best_oa_location.license_id | |
| best_oa_location.is_accepted | False |
| best_oa_location.is_published | False |
| best_oa_location.raw_source_name | Brain |
| best_oa_location.landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/10994532 |
| primary_location.id | doi:10.1093/brain/awad405 |
| primary_location.is_oa | False |
| primary_location.source.id | https://openalex.org/S118357697 |
| primary_location.source.issn | 0006-8950, 1460-2156 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | 0006-8950 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | Brain |
| primary_location.source.host_organization | https://openalex.org/P4310311648 |
| primary_location.source.host_organization_name | Oxford University Press |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310311648, https://openalex.org/P4310311647 |
| primary_location.source.host_organization_lineage_names | Oxford University Press, University of Oxford |
| primary_location.license | |
| primary_location.pdf_url | |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | Brain |
| primary_location.landing_page_url | https://doi.org/10.1093/brain/awad405 |
| publication_date | 2023-12-20 |
| publication_year | 2023 |
| referenced_works | https://openalex.org/W2005657436, https://openalex.org/W2141991853, https://openalex.org/W2614855056, https://openalex.org/W1976903076, https://openalex.org/W2939356024, https://openalex.org/W2119079421, https://openalex.org/W2085115632, https://openalex.org/W2606284189, https://openalex.org/W2462857475, https://openalex.org/W2075428268, https://openalex.org/W2122907354, https://openalex.org/W1899971349, https://openalex.org/W2738998639, https://openalex.org/W1987346667, https://openalex.org/W2820211840, https://openalex.org/W3093107570, https://openalex.org/W2905799560, https://openalex.org/W2019790102, https://openalex.org/W1997388028, https://openalex.org/W2167064895, https://openalex.org/W2071476740, https://openalex.org/W2835430319, https://openalex.org/W2032566422, https://openalex.org/W2161534011, https://openalex.org/W1963706854, https://openalex.org/W2772624269, https://openalex.org/W2300073890, https://openalex.org/W2740510276, https://openalex.org/W2803244823, https://openalex.org/W2218949872, https://openalex.org/W1567512940, https://openalex.org/W2418962434, https://openalex.org/W6697100414, https://openalex.org/W2098031862, https://openalex.org/W4205370111, https://openalex.org/W2580719947, https://openalex.org/W1982719177, https://openalex.org/W1546528060, https://openalex.org/W2161633633, https://openalex.org/W2102213696, https://openalex.org/W2150088209, https://openalex.org/W2119180969, https://openalex.org/W1919257374, https://openalex.org/W1984068087, https://openalex.org/W3029661147, https://openalex.org/W4210467184, https://openalex.org/W2129952088, https://openalex.org/W2465947850, https://openalex.org/W2025707469, https://openalex.org/W3137079006, https://openalex.org/W3093292403, https://openalex.org/W2128016314, https://openalex.org/W3164692211, https://openalex.org/W2163302580, https://openalex.org/W2904647285, https://openalex.org/W2146512944, https://openalex.org/W2120024428, https://openalex.org/W1518787232, https://openalex.org/W3164578107, https://openalex.org/W2889259537, https://openalex.org/W2195301576, https://openalex.org/W1981780292, https://openalex.org/W2916020270, https://openalex.org/W3132661792, https://openalex.org/W3107126205, https://openalex.org/W2905190811, https://openalex.org/W2134127468, https://openalex.org/W2024699009, https://openalex.org/W3216729941, https://openalex.org/W2949181286, https://openalex.org/W2793016065, https://openalex.org/W3046168596, https://openalex.org/W3184987452, https://openalex.org/W3004531765, https://openalex.org/W2031496441, https://openalex.org/W2039033194, https://openalex.org/W1974203453, https://openalex.org/W2167940414, https://openalex.org/W2268497292, https://openalex.org/W2056971661, https://openalex.org/W3113106739, https://openalex.org/W2938203832, https://openalex.org/W2022689242, https://openalex.org/W1972676659, https://openalex.org/W2066096668, https://openalex.org/W2105664416, https://openalex.org/W2039873509, https://openalex.org/W4377565738, https://openalex.org/W4223474154, https://openalex.org/W4295478815, https://openalex.org/W2808599958, https://openalex.org/W4200227741, https://openalex.org/W2019080807, https://openalex.org/W4379375281, https://openalex.org/W3045264265, https://openalex.org/W1976574203, https://openalex.org/W3012471438, https://openalex.org/W1998583950, https://openalex.org/W2896521744, https://openalex.org/W2060429763, https://openalex.org/W1873397816, https://openalex.org/W2044714498, https://openalex.org/W1974421752, https://openalex.org/W2108583651, https://openalex.org/W1617652799, https://openalex.org/W2238514531, https://openalex.org/W2093722600, https://openalex.org/W3182042616, https://openalex.org/W3204862379, https://openalex.org/W3003490092, https://openalex.org/W3165420377, https://openalex.org/W2294437982 |
| referenced_works_count | 112 |
| abstract_inverted_index.7 | 142 |
| abstract_inverted_index.A | 145 |
| abstract_inverted_index.a | 21, 32, 46, 54, 101, 114, 122, 281, 308, 330, 359, 392 |
| abstract_inverted_index.To | 109 |
| abstract_inverted_index.an | 83 |
| abstract_inverted_index.as | 31 |
| abstract_inverted_index.be | 391 |
| abstract_inverted_index.by | 3, 264, 319 |
| abstract_inverted_index.de | 223, 302 |
| abstract_inverted_index.do | 110 |
| abstract_inverted_index.in | 14, 45, 70, 82, 100, 181, 200, 209, 231, 305, 380, 395 |
| abstract_inverted_index.is | 6 |
| abstract_inverted_index.of | 23, 79, 97, 106, 125, 150, 156, 285, 322, 332, 343, 364, 372, 398 |
| abstract_inverted_index.on | 176, 185 |
| abstract_inverted_index.or | 50, 67, 335 |
| abstract_inverted_index.to | 75, 227, 289 |
| abstract_inverted_index.we | 73, 112, 312 |
| abstract_inverted_index.BAF | 347 |
| abstract_inverted_index.and | 90, 93, 162, 174, 195, 202, 212, 246, 258, 261, 276, 297, 329, 345, 355, 386 |
| abstract_inverted_index.but | 266 |
| abstract_inverted_index.for | 351, 358, 376 |
| abstract_inverted_index.key | 232, 286 |
| abstract_inverted_index.may | 390 |
| abstract_inverted_index.not | 41, 63, 267 |
| abstract_inverted_index.six | 220 |
| abstract_inverted_index.the | 7, 24, 77, 95, 169, 186, 293, 341, 346 |
| abstract_inverted_index.1798 | 151 |
| abstract_inverted_index.2697 | 126 |
| abstract_inverted_index.8091 | 138 |
| abstract_inverted_index.also | 250 |
| abstract_inverted_index.been | 42, 64 |
| abstract_inverted_index.both | 255 |
| abstract_inverted_index.data | 339 |
| abstract_inverted_index.from | 121, 153, 168 |
| abstract_inverted_index.have | 18, 40, 62 |
| abstract_inverted_index.most | 8 |
| abstract_inverted_index.novo | 224, 303 |
| abstract_inverted_index.over | 141 |
| abstract_inverted_index.situ | 210 |
| abstract_inverted_index.stem | 361 |
| abstract_inverted_index.term | 313 |
| abstract_inverted_index.that | 136 |
| abstract_inverted_index.were | 166, 179, 191, 198, 249, 262 |
| abstract_inverted_index.with | 53, 132, 158, 193, 238 |
| abstract_inverted_index.(BAF) | 27 |
| abstract_inverted_index.Here, | 72 |
| abstract_inverted_index.These | 299, 338, 368 |
| abstract_inverted_index.aimed | 74 |
| abstract_inverted_index.brain | 12, 189, 275, 279, 334, 353, 384 |
| abstract_inverted_index.cause | 307 |
| abstract_inverted_index.delay | 328 |
| abstract_inverted_index.fetal | 188, 274 |
| abstract_inverted_index.gene. | 36 |
| abstract_inverted_index.genes | 287 |
| abstract_inverted_index.human | 55, 187, 273, 310, 352 |
| abstract_inverted_index.large | 47 |
| abstract_inverted_index.model | 105 |
| abstract_inverted_index.novel | 102, 309 |
| abstract_inverted_index.rare, | 221 |
| abstract_inverted_index.study | 117 |
| abstract_inverted_index.their | 163 |
| abstract_inverted_index.this, | 111 |
| abstract_inverted_index.total | 127, 137 |
| abstract_inverted_index.using | 118, 204 |
| abstract_inverted_index.vivo. | 71 |
| abstract_inverted_index.years | 143 |
| abstract_inverted_index.Recent | 16 |
| abstract_inverted_index.Simons | 170 |
| abstract_inverted_index.assess | 76, 94 |
| abstract_inverted_index.autism | 159 |
| abstract_inverted_index.cohort | 49, 123, 148 |
| abstract_inverted_index.common | 9 |
| abstract_inverted_index.corpus | 241 |
| abstract_inverted_index.delay, | 245 |
| abstract_inverted_index.exomes | 139, 152 |
| abstract_inverted_index.factor | 26 |
| abstract_inverted_index.highly | 228 |
| abstract_inverted_index.impact | 96, 175 |
| abstract_inverted_index.linked | 52, 288 |
| abstract_inverted_index.trios, | 129 |
| abstract_inverted_index.Effects | 184 |
| abstract_inverted_index.NEUROD2 | 296 |
| abstract_inverted_index.SMARCC1 | 38, 60, 80, 214, 306, 344 |
| abstract_inverted_index.Simplex | 171 |
| abstract_inverted_index.Smarcc1 | 98, 196 |
| abstract_inverted_index.Xenopus | 103, 201, 252, 278 |
| abstract_inverted_index.adjunct | 394 |
| abstract_inverted_index.altered | 283 |
| abstract_inverted_index.cardiac | 247, 259, 336 |
| abstract_inverted_index.cell’ | 362 |
| abstract_inverted_index.cohort, | 86 |
| abstract_inverted_index.common. | 251 |
| abstract_inverted_index.complex | 350 |
| abstract_inverted_index.control | 147 |
| abstract_inverted_index.defects | 248, 260 |
| abstract_inverted_index.factors | 295 |
| abstract_inverted_index.genetic | 115 |
| abstract_inverted_index.optical | 205 |
| abstract_inverted_index.parents | 165 |
| abstract_inverted_index.patient | 48, 85 |
| abstract_inverted_index.protein | 177 |
| abstract_inverted_index.provide | 356 |
| abstract_inverted_index.rescued | 263 |
| abstract_inverted_index.results | 300, 369 |
| abstract_inverted_index.sourced | 167 |
| abstract_inverted_index.studied | 69, 203 |
| abstract_inverted_index.studies | 17 |
| abstract_inverted_index.suggest | 301, 387 |
| abstract_inverted_index.surgery | 13 |
| abstract_inverted_index.utility | 371 |
| abstract_inverted_index.variant | 269 |
| abstract_inverted_index.variety | 331 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.However, | 37 |
| abstract_inverted_index.MAB21L2. | 298 |
| abstract_inverted_index.Patients | 235 |
| abstract_inverted_index.SMARCC1, | 20 |
| abstract_inverted_index.SMARCC1. | 270 |
| abstract_inverted_index.assessed | 180 |
| abstract_inverted_index.callosum | 242 |
| abstract_inverted_index.cerebral | 4, 323 |
| abstract_inverted_index.clinical | 89, 396 |
| abstract_inverted_index.complex, | 30 |
| abstract_inverted_index.defects. | 337 |
| abstract_inverted_index.describe | 87 |
| abstract_inverted_index.disorder | 10, 161 |
| abstract_inverted_index.domains. | 234 |
| abstract_inverted_index.evidence | 357 |
| abstract_inverted_index.examined | 44, 192 |
| abstract_inverted_index.expanded | 84 |
| abstract_inverted_index.imaging, | 208 |
| abstract_inverted_index.paradigm | 363 |
| abstract_inverted_index.patients | 131, 157 |
| abstract_inverted_index.presence | 321 |
| abstract_inverted_index.residues | 230 |
| abstract_inverted_index.siblings | 155 |
| abstract_inverted_index.spectrum | 160 |
| abstract_inverted_index.sporadic | 381 |
| abstract_inverted_index.stenosis | 257 |
| abstract_inverted_index.valuable | 393 |
| abstract_inverted_index.variable | 320 |
| abstract_inverted_index.variants | 39, 61, 81, 225, 304, 379 |
| abstract_inverted_index.yielding | 219 |
| abstract_inverted_index.BAFopathy | 311 |
| abstract_inverted_index.Moreover, | 57 |
| abstract_inverted_index.candidate | 33 |
| abstract_inverted_index.children. | 15 |
| abstract_inverted_index.chromatin | 28, 348 |
| abstract_inverted_index.coherence | 206 |
| abstract_inverted_index.collected | 140 |
| abstract_inverted_index.component | 22 |
| abstract_inverted_index.conserved | 229 |
| abstract_inverted_index.consisted | 149 |
| abstract_inverted_index.depletion | 99 |
| abstract_inverted_index.disorders | 385 |
| abstract_inverted_index.exhibited | 236, 280 |
| abstract_inverted_index.generated | 199 |
| abstract_inverted_index.highlight | 370 |
| abstract_inverted_index.including | 130, 292 |
| abstract_inverted_index.localized | 226 |
| abstract_inverted_index.patients. | 401 |
| abstract_inverted_index.performed | 113 |
| abstract_inverted_index.requiring | 11 |
| abstract_inverted_index.similarly | 282 |
| abstract_inverted_index.stenosis, | 326 |
| abstract_inverted_index.stenosis; | 240 |
| abstract_inverted_index.structure | 178 |
| abstract_inverted_index.surpassed | 215 |
| abstract_inverted_index.syndrome. | 56 |
| abstract_inverted_index.validated | 66 |
| abstract_inverted_index.variants. | 183 |
| abstract_inverted_index.wild-type | 265 |
| abstract_inverted_index.‘neural | 360 |
| abstract_inverted_index.Enrichment | 173 |
| abstract_inverted_index.aqueductal | 239, 256, 325 |
| abstract_inverted_index.associated | 88 |
| abstract_inverted_index.comparison | 146 |
| abstract_inverted_index.congenital | 34, 58, 107, 134, 365, 382, 399 |
| abstract_inverted_index.consisting | 124 |
| abstract_inverted_index.dysgenesis | 316 |
| abstract_inverted_index.expression | 284 |
| abstract_inverted_index.functional | 233 |
| abstract_inverted_index.identified | 182 |
| abstract_inverted_index.implicated | 19 |
| abstract_inverted_index.importance | 342 |
| abstract_inverted_index.knockdowns | 197, 253 |
| abstract_inverted_index.management | 397 |
| abstract_inverted_index.pathogenic | 378 |
| abstract_inverted_index.prevalence | 78 |
| abstract_inverted_index.sequencing | 120, 375, 389 |
| abstract_inverted_index.structural | 333, 383 |
| abstract_inverted_index.tomography | 207 |
| abstract_inverted_index.trio-based | 373 |
| abstract_inverted_index.tropicalis | 104 |
| abstract_inverted_index.unaffected | 154, 164 |
| abstract_inverted_index.underscore | 340 |
| abstract_inverted_index.Collection. | 172 |
| abstract_inverted_index.association | 116 |
| abstract_inverted_index.genome-wide | 216 |
| abstract_inverted_index.identifying | 377 |
| abstract_inverted_index.phenotypes, | 92 |
| abstract_inverted_index.remodelling | 29, 349 |
| abstract_inverted_index.thresholds, | 218 |
| abstract_inverted_index.whole-exome | 119, 374, 388 |
| abstract_inverted_index.(2016–23). | 144 |
| abstract_inverted_index.conclusively | 51 |
| abstract_inverted_index.functionally | 65 |
| abstract_inverted_index.radiographic | 91 |
| abstract_inverted_index.significance | 217 |
| abstract_inverted_index.syndrome’, | 317 |
| abstract_inverted_index.Hydrocephalic | 271 |
| abstract_inverted_index.characterized | 2, 318 |
| abstract_inverted_index.developmental | 244, 315, 327 |
| abstract_inverted_index.hybridization | 211 |
| abstract_inverted_index.hydrocephalus | 35, 237, 366, 400 |
| abstract_inverted_index.morphogenesis | 354 |
| abstract_inverted_index.neurogenesis, | 291 |
| abstract_inverted_index.pathogenesis. | 367 |
| abstract_inverted_index.recapitulated | 254 |
| abstract_inverted_index.transcription | 294 |
| abstract_inverted_index.transcriptome | 190 |
| abstract_inverted_index.Hydrocephalus, | 1 |
| abstract_inverted_index.RNA-sequencing | 194 |
| abstract_inverted_index.abnormalities, | 243 |
| abstract_inverted_index.hydrocephalus, | 135 |
| abstract_inverted_index.hydrocephalus. | 108 |
| abstract_inverted_index.midgestational | 290 |
| abstract_inverted_index.systematically | 43 |
| abstract_inverted_index.BRG1-associated | 25 |
| abstract_inverted_index.SMARCC1-variant | 272 |
| abstract_inverted_index.Smarcc1-variant | 277 |
| abstract_inverted_index.mechanistically | 68 |
| abstract_inverted_index.patient-specific | 268 |
| abstract_inverted_index.protein-altering | 222 |
| abstract_inverted_index.ventriculomegalic | 128 |
| abstract_inverted_index.ventriculomegaly, | 5, 324 |
| abstract_inverted_index.immunofluorescence. | 213 |
| abstract_inverted_index.‘SMARCC1-associated | 314 |
| abstract_inverted_index.neurosurgically-treated | 133 |
| abstract_inverted_index.hydrocephalus-associated | 59 |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 98 |
| corresponding_author_ids | https://openalex.org/A5058936141 |
| countries_distinct_count | 3 |
| institutions_distinct_count | 30 |
| corresponding_institution_ids | https://openalex.org/I107606265, https://openalex.org/I1288882113, https://openalex.org/I136199984, https://openalex.org/I4210087915 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.6600000262260437 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.89326743 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |