Genomic Findings in Bone Blood Paired DNA Comparison of Nonsyndromic Craniosynostosis Article Swipe
Yiran Guo
,
Christopher L. Kalmar
,
Xiaoyan Huang
,
Bo Zhang
,
Yuankun Zhu
,
Stephanie Stefankiewicz
,
Mateusz Koptyra
,
Jennifer L. Mason
,
Tatiana Patton
,
Elizabeth Appert
,
López Roa
,
Catherine Sullivan
,
Anna R. Carlson
,
Mychajlo S. Kosyk
,
Zachary D. Zapatero
,
Philip B Storm
,
Jordan W. Swanson
,
Scott P. Bartlett
,
Joseph M. Serletti
,
Adam Resnick
,
Jesse A. Taylor
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1097/01.gox.0000799728.55493.b3
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1097/01.gox.0000799728.55493.b3
OBJECTIVE: The purpose of this study is to elucidate genetic variants contributing to nonsyndromic craniosynostosis by comparing samples from abnormally fused bones, unaffected bones, and parent saliva, to those from patient peripheral whole blood (PWB). METHODS: We applied whole genome sequencing, then performed best practice genomic alignment and variant calling, trio joint genotyping for germline genomic variants, consensus somatic variant calling for PWB-bone comparisons, and variant annotation. Alternative allele frequencies, variant damaging predictions, and inheritance models were used to filter variants. RESULTS: The study included 109 DNA samples from 26 trios, in which 17 families have affected bone tissue DNA. Patients’ affected bone samples were sequenced to an average depth of 112.7X with the rest biospecimens to 35.7X. On average, 2629 somatic variants were identified in the affected bones. After filtering, we identified 40 genes with somatic pathogenic/likely pathogenic (P/LP) variants. We also detected germline P/LP variants, mostly from de novo events. We confirmed known craniosynostosis genes FGFR3 and IHH (both with germline de novo variants), and FREM1 (with a somatic variant in affected bone). From a single patient, we also discovered a germline de novo CHPF variant and a somatic CHPF variant in affected bone. CONCLUSION: We identified a novel candidate craniosynostosis gene CHPF in the same pathway as those required for bone development and digit patterning, which shows promise for further investigation.
Related Topics
Concepts
Germline
Genotyping
Genetics
Biology
Craniosynostosis
Somatic cell
Gene
genomic DNA
Germline mosaicism
Genotype
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1097/01.gox.0000799728.55493.b3
- OA Status
- gold
- Cited By
- 1
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4310485604
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4310485604Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1097/01.gox.0000799728.55493.b3Digital Object Identifier
- Title
-
Genomic Findings in Bone Blood Paired DNA Comparison of Nonsyndromic CraniosynostosisWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-10-01Full publication date if available
- Authors
-
Yiran Guo, Christopher L. Kalmar, Xiaoyan Huang, Bo Zhang, Yuankun Zhu, Stephanie Stefankiewicz, Mateusz Koptyra, Jennifer L. Mason, Tatiana Patton, Elizabeth Appert, López Roa, Catherine Sullivan, Anna R. Carlson, Mychajlo S. Kosyk, Zachary D. Zapatero, Philip B Storm, Jordan W. Swanson, Scott P. Bartlett, Joseph M. Serletti, Adam Resnick, Jesse A. TaylorList of authors in order
- Landing page
-
https://doi.org/10.1097/01.gox.0000799728.55493.b3Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.1097/01.gox.0000799728.55493.b3Direct OA link when available
- Concepts
-
Germline, Genotyping, Genetics, Biology, Craniosynostosis, Somatic cell, Gene, genomic DNA, Germline mosaicism, GenotypeTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
1Total citation count in OpenAlex
- Citations by year (recent)
-
2022: 1Per-year citation counts (last 5 years)
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4310485604 |
|---|---|
| doi | https://doi.org/10.1097/01.gox.0000799728.55493.b3 |
| ids.doi | https://doi.org/10.1097/01.gox.0000799728.55493.b3 |
| ids.openalex | https://openalex.org/W4310485604 |
| fwci | 0.18722357 |
| type | article |
| title | Genomic Findings in Bone Blood Paired DNA Comparison of Nonsyndromic Craniosynostosis |
| biblio.issue | 10S |
| biblio.volume | 9 |
| biblio.last_page | 123 |
| biblio.first_page | 122 |
| topics[0].id | https://openalex.org/T11679 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9958000183105469 |
| topics[0].domain.id | https://openalex.org/domains/1 |
| topics[0].domain.display_name | Life Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/1311 |
| topics[0].subfield.display_name | Genetics |
| topics[0].display_name | Craniofacial Disorders and Treatments |
| topics[1].id | https://openalex.org/T11310 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9603999853134155 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1311 |
| topics[1].subfield.display_name | Genetics |
| topics[1].display_name | Connective tissue disorders research |
| topics[2].id | https://openalex.org/T14134 |
| topics[2].field.id | https://openalex.org/fields/27 |
| topics[2].field.display_name | Medicine |
| topics[2].score | 0.9366000294685364 |
| topics[2].domain.id | https://openalex.org/domains/4 |
| topics[2].domain.display_name | Health Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/2702 |
| topics[2].subfield.display_name | Anatomy |
| topics[2].display_name | Medical and Biological Sciences |
| is_xpac | False |
| apc_list.value | 2195 |
| apc_list.currency | USD |
| apc_list.value_usd | 2195 |
| apc_paid.value | 2195 |
| apc_paid.currency | USD |
| apc_paid.value_usd | 2195 |
| concepts[0].id | https://openalex.org/C109825262 |
| concepts[0].level | 3 |
| concepts[0].score | 0.7115309238433838 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q1139164 |
| concepts[0].display_name | Germline |
| concepts[1].id | https://openalex.org/C31467283 |
| concepts[1].level | 4 |
| concepts[1].score | 0.691743016242981 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q912147 |
| concepts[1].display_name | Genotyping |
| concepts[2].id | https://openalex.org/C54355233 |
| concepts[2].level | 1 |
| concepts[2].score | 0.6735098361968994 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[2].display_name | Genetics |
| concepts[3].id | https://openalex.org/C86803240 |
| concepts[3].level | 0 |
| concepts[3].score | 0.6643074750900269 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[3].display_name | Biology |
| concepts[4].id | https://openalex.org/C2779302956 |
| concepts[4].level | 2 |
| concepts[4].score | 0.4857526421546936 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q378183 |
| concepts[4].display_name | Craniosynostosis |
| concepts[5].id | https://openalex.org/C134305767 |
| concepts[5].level | 3 |
| concepts[5].score | 0.46348148584365845 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q725508 |
| concepts[5].display_name | Somatic cell |
| concepts[6].id | https://openalex.org/C104317684 |
| concepts[6].level | 2 |
| concepts[6].score | 0.43869125843048096 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[6].display_name | Gene |
| concepts[7].id | https://openalex.org/C17757408 |
| concepts[7].level | 3 |
| concepts[7].score | 0.4279749393463135 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q4135516 |
| concepts[7].display_name | genomic DNA |
| concepts[8].id | https://openalex.org/C48720390 |
| concepts[8].level | 4 |
| concepts[8].score | 0.41195085644721985 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q5552250 |
| concepts[8].display_name | Germline mosaicism |
| concepts[9].id | https://openalex.org/C135763542 |
| concepts[9].level | 3 |
| concepts[9].score | 0.15150323510169983 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q106016 |
| concepts[9].display_name | Genotype |
| keywords[0].id | https://openalex.org/keywords/germline |
| keywords[0].score | 0.7115309238433838 |
| keywords[0].display_name | Germline |
| keywords[1].id | https://openalex.org/keywords/genotyping |
| keywords[1].score | 0.691743016242981 |
| keywords[1].display_name | Genotyping |
| keywords[2].id | https://openalex.org/keywords/genetics |
| keywords[2].score | 0.6735098361968994 |
| keywords[2].display_name | Genetics |
| keywords[3].id | https://openalex.org/keywords/biology |
| keywords[3].score | 0.6643074750900269 |
| keywords[3].display_name | Biology |
| keywords[4].id | https://openalex.org/keywords/craniosynostosis |
| keywords[4].score | 0.4857526421546936 |
| keywords[4].display_name | Craniosynostosis |
| keywords[5].id | https://openalex.org/keywords/somatic-cell |
| keywords[5].score | 0.46348148584365845 |
| keywords[5].display_name | Somatic cell |
| keywords[6].id | https://openalex.org/keywords/gene |
| keywords[6].score | 0.43869125843048096 |
| keywords[6].display_name | Gene |
| keywords[7].id | https://openalex.org/keywords/genomic-dna |
| keywords[7].score | 0.4279749393463135 |
| keywords[7].display_name | genomic DNA |
| keywords[8].id | https://openalex.org/keywords/germline-mosaicism |
| keywords[8].score | 0.41195085644721985 |
| keywords[8].display_name | Germline mosaicism |
| keywords[9].id | https://openalex.org/keywords/genotype |
| keywords[9].score | 0.15150323510169983 |
| keywords[9].display_name | Genotype |
| language | en |
| locations[0].id | doi:10.1097/01.gox.0000799728.55493.b3 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S2754281505 |
| locations[0].source.issn | 2169-7574 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | True |
| locations[0].source.issn_l | 2169-7574 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | True |
| locations[0].source.display_name | Plastic & Reconstructive Surgery Global Open |
| locations[0].source.host_organization | https://openalex.org/P4310318547 |
| locations[0].source.host_organization_name | Wolters Kluwer |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310318547 |
| locations[0].license | cc-by-nc-nd |
| locations[0].pdf_url | |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | https://openalex.org/licenses/cc-by-nc-nd |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | Plastic and Reconstructive Surgery - Global Open |
| locations[0].landing_page_url | https://doi.org/10.1097/01.gox.0000799728.55493.b3 |
| locations[1].id | pmh:oai:doaj.org/article:af9d3db364714220ba31c08d77c1f4eb |
| locations[1].is_oa | True |
| locations[1].source.id | https://openalex.org/S4306401280 |
| 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 | DOAJ (DOAJ: Directory of Open Access Journals) |
| locations[1].source.host_organization | |
| locations[1].source.host_organization_name | |
| locations[1].source.host_organization_lineage | |
| locations[1].license | cc-by-sa |
| locations[1].pdf_url | |
| locations[1].version | submittedVersion |
| locations[1].raw_type | article |
| locations[1].license_id | https://openalex.org/licenses/cc-by-sa |
| locations[1].is_accepted | False |
| locations[1].is_published | False |
| locations[1].raw_source_name | Plastic and Reconstructive Surgery, Global Open, Vol 9, Iss 10S, Pp 122-123 (2021) |
| locations[1].landing_page_url | https://doaj.org/article/af9d3db364714220ba31c08d77c1f4eb |
| locations[2].id | pmh:oai:pubmedcentral.nih.gov:9555972 |
| 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 | other-oa |
| locations[2].pdf_url | |
| locations[2].version | submittedVersion |
| locations[2].raw_type | Text |
| locations[2].license_id | https://openalex.org/licenses/other-oa |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | Plast Reconstr Surg Glob Open |
| locations[2].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/9555972 |
| indexed_in | crossref, doaj |
| authorships[0].author.id | https://openalex.org/A5036667693 |
| authorships[0].author.orcid | https://orcid.org/0000-0002-6266-9186 |
| authorships[0].author.display_name | Yiran Guo |
| authorships[0].countries | US |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[0].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[0].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[0].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[0].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[0].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[0].institutions[0].type | healthcare |
| authorships[0].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[0].institutions[0].country_code | US |
| authorships[0].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[0].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[0].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[0].institutions[1].type | nonprofit |
| authorships[0].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[0].institutions[1].country_code | US |
| authorships[0].institutions[1].display_name | Creative Commons |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Yiran Guo |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[1].author.id | https://openalex.org/A5023008754 |
| authorships[1].author.orcid | https://orcid.org/0000-0002-8750-7538 |
| authorships[1].author.display_name | Christopher L. Kalmar |
| authorships[1].countries | US |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[1].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[1].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[1].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[1].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[1].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[1].institutions[0].type | healthcare |
| authorships[1].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[1].institutions[0].country_code | US |
| authorships[1].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[1].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[1].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[1].institutions[1].type | nonprofit |
| authorships[1].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[1].institutions[1].country_code | US |
| authorships[1].institutions[1].display_name | Creative Commons |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Christopher L. Kalmar |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[2].author.id | https://openalex.org/A5052146958 |
| authorships[2].author.orcid | https://orcid.org/0000-0001-7267-4512 |
| authorships[2].author.display_name | Xiaoyan Huang |
| authorships[2].countries | US |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[2].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[2].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[2].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[2].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[2].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[2].institutions[0].type | healthcare |
| authorships[2].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[2].institutions[0].country_code | US |
| authorships[2].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[2].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[2].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[2].institutions[1].type | nonprofit |
| authorships[2].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[2].institutions[1].country_code | US |
| authorships[2].institutions[1].display_name | Creative Commons |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Xiaoyan Huang |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[3].author.id | https://openalex.org/A5100699607 |
| authorships[3].author.orcid | https://orcid.org/0000-0002-0743-5379 |
| authorships[3].author.display_name | Bo Zhang |
| authorships[3].countries | US |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[3].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[3].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[3].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[3].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[3].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[3].institutions[0].type | healthcare |
| authorships[3].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[3].institutions[0].country_code | US |
| authorships[3].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[3].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[3].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[3].institutions[1].type | nonprofit |
| authorships[3].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[3].institutions[1].country_code | US |
| authorships[3].institutions[1].display_name | Creative Commons |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Bo Zhang |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[4].author.id | https://openalex.org/A5028450298 |
| authorships[4].author.orcid | https://orcid.org/0000-0002-2455-9525 |
| authorships[4].author.display_name | Yuankun Zhu |
| authorships[4].countries | US |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[4].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[4].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[4].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[4].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[4].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[4].institutions[0].type | healthcare |
| authorships[4].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[4].institutions[0].country_code | US |
| authorships[4].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[4].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[4].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[4].institutions[1].type | nonprofit |
| authorships[4].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[4].institutions[1].country_code | US |
| authorships[4].institutions[1].display_name | Creative Commons |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Yuankun Zhu |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[5].author.id | https://openalex.org/A5041562528 |
| authorships[5].author.orcid | |
| authorships[5].author.display_name | Stephanie Stefankiewicz |
| authorships[5].countries | US |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[5].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[5].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[5].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[5].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[5].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[5].institutions[0].type | healthcare |
| authorships[5].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[5].institutions[0].country_code | US |
| authorships[5].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[5].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[5].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[5].institutions[1].type | nonprofit |
| authorships[5].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[5].institutions[1].country_code | US |
| authorships[5].institutions[1].display_name | Creative Commons |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Stephanie Stefankiewicz |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[6].author.id | https://openalex.org/A5078178928 |
| authorships[6].author.orcid | https://orcid.org/0000-0002-3857-6633 |
| authorships[6].author.display_name | Mateusz Koptyra |
| authorships[6].countries | US |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[6].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[6].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[6].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[6].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[6].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[6].institutions[0].type | healthcare |
| authorships[6].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[6].institutions[0].country_code | US |
| authorships[6].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[6].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[6].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[6].institutions[1].type | nonprofit |
| authorships[6].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[6].institutions[1].country_code | US |
| authorships[6].institutions[1].display_name | Creative Commons |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Mateusz Koptyra |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[7].author.id | https://openalex.org/A5049258262 |
| authorships[7].author.orcid | https://orcid.org/0000-0001-5884-2815 |
| authorships[7].author.display_name | Jennifer L. Mason |
| authorships[7].countries | US |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[7].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[7].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[7].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[7].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[7].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[7].institutions[0].type | healthcare |
| authorships[7].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[7].institutions[0].country_code | US |
| authorships[7].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[7].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[7].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[7].institutions[1].type | nonprofit |
| authorships[7].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[7].institutions[1].country_code | US |
| authorships[7].institutions[1].display_name | Creative Commons |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Jennifer Mason |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[8].author.id | https://openalex.org/A5082561162 |
| authorships[8].author.orcid | |
| authorships[8].author.display_name | Tatiana Patton |
| authorships[8].countries | US |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[8].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[8].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[8].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[8].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[8].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[8].institutions[0].type | healthcare |
| authorships[8].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[8].institutions[0].country_code | US |
| authorships[8].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[8].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[8].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[8].institutions[1].type | nonprofit |
| authorships[8].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[8].institutions[1].country_code | US |
| authorships[8].institutions[1].display_name | Creative Commons |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Tatiana Patton |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[9].author.id | https://openalex.org/A5051109564 |
| authorships[9].author.orcid | |
| authorships[9].author.display_name | Elizabeth Appert |
| authorships[9].countries | US |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[9].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[9].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[9].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[9].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[9].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[9].institutions[0].type | healthcare |
| authorships[9].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[9].institutions[0].country_code | US |
| authorships[9].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[9].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[9].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[9].institutions[1].type | nonprofit |
| authorships[9].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[9].institutions[1].country_code | US |
| authorships[9].institutions[1].display_name | Creative Commons |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Elizabeth Appert |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[10].author.id | https://openalex.org/A5101430510 |
| authorships[10].author.orcid | https://orcid.org/0000-0002-2573-6335 |
| authorships[10].author.display_name | López Roa |
| authorships[10].countries | US |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[10].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[10].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[10].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[10].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[10].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[10].institutions[0].type | healthcare |
| authorships[10].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[10].institutions[0].country_code | US |
| authorships[10].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[10].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[10].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[10].institutions[1].type | nonprofit |
| authorships[10].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[10].institutions[1].country_code | US |
| authorships[10].institutions[1].display_name | Creative Commons |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Lina Lopez |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[11].author.id | https://openalex.org/A5063299552 |
| authorships[11].author.orcid | https://orcid.org/0000-0003-2515-6901 |
| authorships[11].author.display_name | Catherine Sullivan |
| authorships[11].countries | US |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[11].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[11].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[11].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[11].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[11].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[11].institutions[0].type | healthcare |
| authorships[11].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[11].institutions[0].country_code | US |
| authorships[11].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[11].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[11].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[11].institutions[1].type | nonprofit |
| authorships[11].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[11].institutions[1].country_code | US |
| authorships[11].institutions[1].display_name | Creative Commons |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Catherine Sullivan |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[12].author.id | https://openalex.org/A5011322607 |
| authorships[12].author.orcid | |
| authorships[12].author.display_name | Anna R. Carlson |
| authorships[12].countries | US |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[12].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[12].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[12].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[12].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[12].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[12].institutions[0].type | healthcare |
| authorships[12].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[12].institutions[0].country_code | US |
| authorships[12].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[12].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[12].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[12].institutions[1].type | nonprofit |
| authorships[12].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[12].institutions[1].country_code | US |
| authorships[12].institutions[1].display_name | Creative Commons |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | Anna R. Carlson |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[13].author.id | https://openalex.org/A5074735319 |
| authorships[13].author.orcid | https://orcid.org/0000-0003-2798-2545 |
| authorships[13].author.display_name | Mychajlo S. Kosyk |
| authorships[13].countries | US |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[13].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[13].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[13].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[13].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[13].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[13].institutions[0].type | healthcare |
| authorships[13].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[13].institutions[0].country_code | US |
| authorships[13].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[13].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[13].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[13].institutions[1].type | nonprofit |
| authorships[13].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[13].institutions[1].country_code | US |
| authorships[13].institutions[1].display_name | Creative Commons |
| authorships[13].author_position | middle |
| authorships[13].raw_author_name | Mychajlo S. Kosyk |
| authorships[13].is_corresponding | False |
| authorships[13].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[14].author.id | https://openalex.org/A5056884599 |
| authorships[14].author.orcid | |
| authorships[14].author.display_name | Zachary D. Zapatero |
| authorships[14].countries | US |
| authorships[14].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[14].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[14].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[14].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[14].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[14].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[14].institutions[0].type | healthcare |
| authorships[14].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[14].institutions[0].country_code | US |
| authorships[14].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[14].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[14].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[14].institutions[1].type | nonprofit |
| authorships[14].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[14].institutions[1].country_code | US |
| authorships[14].institutions[1].display_name | Creative Commons |
| authorships[14].author_position | middle |
| authorships[14].raw_author_name | Zachary D. Zapatero |
| authorships[14].is_corresponding | False |
| authorships[14].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[15].author.id | https://openalex.org/A5109247507 |
| authorships[15].author.orcid | |
| authorships[15].author.display_name | Philip B Storm |
| authorships[15].countries | US |
| authorships[15].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[15].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[15].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[15].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[15].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[15].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[15].institutions[0].type | healthcare |
| authorships[15].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[15].institutions[0].country_code | US |
| authorships[15].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[15].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[15].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[15].institutions[1].type | nonprofit |
| authorships[15].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[15].institutions[1].country_code | US |
| authorships[15].institutions[1].display_name | Creative Commons |
| authorships[15].author_position | middle |
| authorships[15].raw_author_name | Philip B. Storm |
| authorships[15].is_corresponding | False |
| authorships[15].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[16].author.id | https://openalex.org/A5047136036 |
| authorships[16].author.orcid | https://orcid.org/0000-0001-7112-8114 |
| authorships[16].author.display_name | Jordan W. Swanson |
| authorships[16].countries | US |
| authorships[16].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[16].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[16].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[16].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[16].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[16].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[16].institutions[0].type | healthcare |
| authorships[16].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[16].institutions[0].country_code | US |
| authorships[16].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[16].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[16].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[16].institutions[1].type | nonprofit |
| authorships[16].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[16].institutions[1].country_code | US |
| authorships[16].institutions[1].display_name | Creative Commons |
| authorships[16].author_position | middle |
| authorships[16].raw_author_name | Jordan W. Swanson |
| authorships[16].is_corresponding | False |
| authorships[16].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[17].author.id | https://openalex.org/A5103417851 |
| authorships[17].author.orcid | https://orcid.org/0009-0004-2310-3659 |
| authorships[17].author.display_name | Scott P. Bartlett |
| authorships[17].countries | US |
| authorships[17].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[17].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[17].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[17].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[17].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[17].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[17].institutions[0].type | healthcare |
| authorships[17].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[17].institutions[0].country_code | US |
| authorships[17].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[17].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[17].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[17].institutions[1].type | nonprofit |
| authorships[17].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[17].institutions[1].country_code | US |
| authorships[17].institutions[1].display_name | Creative Commons |
| authorships[17].author_position | middle |
| authorships[17].raw_author_name | Scott P. Bartlett |
| authorships[17].is_corresponding | False |
| authorships[17].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[18].author.id | https://openalex.org/A5015613196 |
| authorships[18].author.orcid | |
| authorships[18].author.display_name | Joseph M. Serletti |
| authorships[18].countries | US |
| authorships[18].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[18].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[18].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[18].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[18].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[18].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[18].institutions[0].type | healthcare |
| authorships[18].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[18].institutions[0].country_code | US |
| authorships[18].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[18].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[18].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[18].institutions[1].type | nonprofit |
| authorships[18].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[18].institutions[1].country_code | US |
| authorships[18].institutions[1].display_name | Creative Commons |
| authorships[18].author_position | middle |
| authorships[18].raw_author_name | Joseph M. Serletti |
| authorships[18].is_corresponding | False |
| authorships[18].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[19].author.id | https://openalex.org/A5086085263 |
| authorships[19].author.orcid | https://orcid.org/0000-0003-0436-4189 |
| authorships[19].author.display_name | Adam Resnick |
| authorships[19].countries | US |
| authorships[19].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[19].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[19].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[19].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[19].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[19].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[19].institutions[0].type | healthcare |
| authorships[19].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[19].institutions[0].country_code | US |
| authorships[19].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[19].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[19].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[19].institutions[1].type | nonprofit |
| authorships[19].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[19].institutions[1].country_code | US |
| authorships[19].institutions[1].display_name | Creative Commons |
| authorships[19].author_position | middle |
| authorships[19].raw_author_name | Adam Resnick |
| authorships[19].is_corresponding | False |
| authorships[19].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[20].author.id | https://openalex.org/A5036616693 |
| authorships[20].author.orcid | https://orcid.org/0000-0003-2827-5471 |
| authorships[20].author.display_name | Jesse A. Taylor |
| authorships[20].countries | US |
| authorships[20].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[20].affiliations[0].raw_affiliation_string | Children’s Hospital of Philadelphia, Philadelphia, PA |
| authorships[20].affiliations[1].institution_ids | https://openalex.org/I4210120668 |
| authorships[20].affiliations[1].raw_affiliation_string | This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| authorships[20].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[20].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[20].institutions[0].type | healthcare |
| authorships[20].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[20].institutions[0].country_code | US |
| authorships[20].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[20].institutions[1].id | https://openalex.org/I4210120668 |
| authorships[20].institutions[1].ror | https://ror.org/02ed4cj64 |
| authorships[20].institutions[1].type | nonprofit |
| authorships[20].institutions[1].lineage | https://openalex.org/I4210120668 |
| authorships[20].institutions[1].country_code | US |
| authorships[20].institutions[1].display_name | Creative Commons |
| authorships[20].author_position | last |
| authorships[20].raw_author_name | Jesse A. Taylor |
| authorships[20].is_corresponding | False |
| authorships[20].raw_affiliation_strings | Children’s Hospital of Philadelphia, Philadelphia, PA, This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
| has_content.pdf | False |
| has_content.grobid_xml | False |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://doi.org/10.1097/01.gox.0000799728.55493.b3 |
| open_access.oa_status | gold |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | Genomic Findings in Bone Blood Paired DNA Comparison of Nonsyndromic Craniosynostosis |
| has_fulltext | False |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T11679 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9958000183105469 |
| primary_topic.domain.id | https://openalex.org/domains/1 |
| primary_topic.domain.display_name | Life Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/1311 |
| primary_topic.subfield.display_name | Genetics |
| primary_topic.display_name | Craniofacial Disorders and Treatments |
| related_works | https://openalex.org/W2606201227, https://openalex.org/W2000783020, https://openalex.org/W3107653162, https://openalex.org/W1491598325, https://openalex.org/W2086399984, https://openalex.org/W2056441922, https://openalex.org/W2093846964, https://openalex.org/W1516735761, https://openalex.org/W77623810, https://openalex.org/W3085554512 |
| cited_by_count | 1 |
| counts_by_year[0].year | 2022 |
| counts_by_year[0].cited_by_count | 1 |
| locations_count | 3 |
| best_oa_location.id | doi:10.1097/01.gox.0000799728.55493.b3 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S2754281505 |
| best_oa_location.source.issn | 2169-7574 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | True |
| best_oa_location.source.issn_l | 2169-7574 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | True |
| best_oa_location.source.display_name | Plastic & Reconstructive Surgery Global Open |
| best_oa_location.source.host_organization | https://openalex.org/P4310318547 |
| best_oa_location.source.host_organization_name | Wolters Kluwer |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310318547 |
| best_oa_location.license | cc-by-nc-nd |
| best_oa_location.pdf_url | |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by-nc-nd |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | Plastic and Reconstructive Surgery - Global Open |
| best_oa_location.landing_page_url | https://doi.org/10.1097/01.gox.0000799728.55493.b3 |
| primary_location.id | doi:10.1097/01.gox.0000799728.55493.b3 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S2754281505 |
| primary_location.source.issn | 2169-7574 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | True |
| primary_location.source.issn_l | 2169-7574 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | True |
| primary_location.source.display_name | Plastic & Reconstructive Surgery Global Open |
| primary_location.source.host_organization | https://openalex.org/P4310318547 |
| primary_location.source.host_organization_name | Wolters Kluwer |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310318547 |
| primary_location.license | cc-by-nc-nd |
| primary_location.pdf_url | |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | https://openalex.org/licenses/cc-by-nc-nd |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | Plastic and Reconstructive Surgery - Global Open |
| primary_location.landing_page_url | https://doi.org/10.1097/01.gox.0000799728.55493.b3 |
| publication_date | 2021-10-01 |
| publication_year | 2021 |
| referenced_works_count | 0 |
| abstract_inverted_index.a | 169, 176, 182, 189, 199 |
| abstract_inverted_index.17 | 93 |
| abstract_inverted_index.26 | 89 |
| abstract_inverted_index.40 | 133 |
| abstract_inverted_index.On | 118 |
| abstract_inverted_index.We | 36, 141, 152, 197 |
| abstract_inverted_index.an | 107 |
| abstract_inverted_index.as | 209 |
| abstract_inverted_index.by | 15 |
| abstract_inverted_index.de | 149, 163, 184 |
| abstract_inverted_index.in | 91, 125, 172, 193, 205 |
| abstract_inverted_index.is | 6 |
| abstract_inverted_index.of | 3, 110 |
| abstract_inverted_index.to | 7, 12, 27, 78, 106, 116 |
| abstract_inverted_index.we | 131, 179 |
| abstract_inverted_index.109 | 85 |
| abstract_inverted_index.DNA | 86 |
| abstract_inverted_index.IHH | 159 |
| abstract_inverted_index.The | 1, 82 |
| abstract_inverted_index.and | 24, 47, 64, 73, 158, 166, 188, 215 |
| abstract_inverted_index.for | 53, 61, 212, 221 |
| abstract_inverted_index.the | 113, 126, 206 |
| abstract_inverted_index.2629 | 120 |
| abstract_inverted_index.CHPF | 186, 191, 204 |
| abstract_inverted_index.DNA. | 99 |
| abstract_inverted_index.From | 175 |
| abstract_inverted_index.P/LP | 145 |
| abstract_inverted_index.also | 142, 180 |
| abstract_inverted_index.best | 43 |
| abstract_inverted_index.bone | 97, 102, 213 |
| abstract_inverted_index.from | 18, 29, 88, 148 |
| abstract_inverted_index.gene | 203 |
| abstract_inverted_index.have | 95 |
| abstract_inverted_index.novo | 150, 164, 185 |
| abstract_inverted_index.rest | 114 |
| abstract_inverted_index.same | 207 |
| abstract_inverted_index.then | 41 |
| abstract_inverted_index.this | 4 |
| abstract_inverted_index.trio | 50 |
| abstract_inverted_index.used | 77 |
| abstract_inverted_index.were | 76, 104, 123 |
| abstract_inverted_index.with | 112, 135, 161 |
| abstract_inverted_index.(both | 160 |
| abstract_inverted_index.(with | 168 |
| abstract_inverted_index.After | 129 |
| abstract_inverted_index.FGFR3 | 157 |
| abstract_inverted_index.FREM1 | 167 |
| abstract_inverted_index.blood | 33 |
| abstract_inverted_index.bone. | 195 |
| abstract_inverted_index.depth | 109 |
| abstract_inverted_index.digit | 216 |
| abstract_inverted_index.fused | 20 |
| abstract_inverted_index.genes | 134, 156 |
| abstract_inverted_index.joint | 51 |
| abstract_inverted_index.known | 154 |
| abstract_inverted_index.novel | 200 |
| abstract_inverted_index.shows | 219 |
| abstract_inverted_index.study | 5, 83 |
| abstract_inverted_index.those | 28, 210 |
| abstract_inverted_index.which | 92, 218 |
| abstract_inverted_index.whole | 32, 38 |
| abstract_inverted_index.(P/LP) | 139 |
| abstract_inverted_index.(PWB). | 34 |
| abstract_inverted_index.112.7X | 111 |
| abstract_inverted_index.35.7X. | 117 |
| abstract_inverted_index.allele | 68 |
| abstract_inverted_index.bone). | 174 |
| abstract_inverted_index.bones, | 21, 23 |
| abstract_inverted_index.bones. | 128 |
| abstract_inverted_index.filter | 79 |
| abstract_inverted_index.genome | 39 |
| abstract_inverted_index.models | 75 |
| abstract_inverted_index.mostly | 147 |
| abstract_inverted_index.parent | 25 |
| abstract_inverted_index.single | 177 |
| abstract_inverted_index.tissue | 98 |
| abstract_inverted_index.trios, | 90 |
| abstract_inverted_index.applied | 37 |
| abstract_inverted_index.average | 108 |
| abstract_inverted_index.calling | 60 |
| abstract_inverted_index.events. | 151 |
| abstract_inverted_index.further | 222 |
| abstract_inverted_index.genetic | 9 |
| abstract_inverted_index.genomic | 45, 55 |
| abstract_inverted_index.pathway | 208 |
| abstract_inverted_index.patient | 30 |
| abstract_inverted_index.promise | 220 |
| abstract_inverted_index.purpose | 2 |
| abstract_inverted_index.saliva, | 26 |
| abstract_inverted_index.samples | 17, 87, 103 |
| abstract_inverted_index.somatic | 58, 121, 136, 170, 190 |
| abstract_inverted_index.variant | 48, 59, 65, 70, 171, 187, 192 |
| abstract_inverted_index.METHODS: | 35 |
| abstract_inverted_index.PWB-bone | 62 |
| abstract_inverted_index.RESULTS: | 81 |
| abstract_inverted_index.affected | 96, 101, 127, 173, 194 |
| abstract_inverted_index.average, | 119 |
| abstract_inverted_index.calling, | 49 |
| abstract_inverted_index.damaging | 71 |
| abstract_inverted_index.detected | 143 |
| abstract_inverted_index.families | 94 |
| abstract_inverted_index.germline | 54, 144, 162, 183 |
| abstract_inverted_index.included | 84 |
| abstract_inverted_index.patient, | 178 |
| abstract_inverted_index.practice | 44 |
| abstract_inverted_index.required | 211 |
| abstract_inverted_index.variants | 10, 122 |
| abstract_inverted_index.alignment | 46 |
| abstract_inverted_index.candidate | 201 |
| abstract_inverted_index.comparing | 16 |
| abstract_inverted_index.confirmed | 153 |
| abstract_inverted_index.consensus | 57 |
| abstract_inverted_index.elucidate | 8 |
| abstract_inverted_index.performed | 42 |
| abstract_inverted_index.sequenced | 105 |
| abstract_inverted_index.variants, | 56, 146 |
| abstract_inverted_index.variants. | 80, 140 |
| abstract_inverted_index.OBJECTIVE: | 0 |
| abstract_inverted_index.abnormally | 19 |
| abstract_inverted_index.discovered | 181 |
| abstract_inverted_index.filtering, | 130 |
| abstract_inverted_index.genotyping | 52 |
| abstract_inverted_index.identified | 124, 132, 198 |
| abstract_inverted_index.pathogenic | 138 |
| abstract_inverted_index.peripheral | 31 |
| abstract_inverted_index.unaffected | 22 |
| abstract_inverted_index.variants), | 165 |
| abstract_inverted_index.Alternative | 67 |
| abstract_inverted_index.CONCLUSION: | 196 |
| abstract_inverted_index.Patients’ | 100 |
| abstract_inverted_index.annotation. | 66 |
| abstract_inverted_index.development | 214 |
| abstract_inverted_index.inheritance | 74 |
| abstract_inverted_index.patterning, | 217 |
| abstract_inverted_index.sequencing, | 40 |
| abstract_inverted_index.biospecimens | 115 |
| abstract_inverted_index.comparisons, | 63 |
| abstract_inverted_index.contributing | 11 |
| abstract_inverted_index.frequencies, | 69 |
| abstract_inverted_index.nonsyndromic | 13 |
| abstract_inverted_index.predictions, | 72 |
| abstract_inverted_index.investigation. | 223 |
| abstract_inverted_index.craniosynostosis | 14, 155, 202 |
| abstract_inverted_index.pathogenic/likely | 137 |
| cited_by_percentile_year.max | 94 |
| cited_by_percentile_year.min | 89 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 21 |
| citation_normalized_percentile.value | 0.62919472 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |