Correction to “A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature” Article Swipe
Von Hardenberg
,
Alanna Strong
,
Soumya Rao
,
Sandra von Hardenberg
,
Dong Li
,
Liza L. Cox
,
Paul C. Lee
,
Li Zhang
,
Waheed Awotoye
,
Tamir Diamond
,
Jessica I. Gold
,
Catherine Gooch
,
Jephthah Gowans
,
Håkon Håkonarson
,
Anne Hing
,
Kathleen M. Loomes
,
Nicole Martin
,
Thanuja Selvanayagam
,
Mary L. Marazita
,
Tarja Mononen
,
David A. Piccoli
,
Rolph Pfundt
,
Salmo Raskin
,
Stephen W. Scherer
,
Nara Sobriera
,
Courtney Vaccaro
,
Xiang Wang
,
Deborah Watson
,
Rosanna Weksberg
,
Elizabeth Bhoj
,
Jeffrey C. Murray
,
Andrew C. Lidral
,
Azeez Butali
,
Michael F. Buckley
,
Tony Roscioli
,
David A. Koolen
,
Laurie H. Seaver
,
Cynthia A. Prows
,
Rolf W. Stottmann
,
Timothy C. Cox
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.63352
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.63352
Related Topics
Concepts
Metadata
- Type
- erratum
- Language
- en
- Landing Page
- https://doi.org/10.1002/ajmg.a.63352
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63352
- OA Status
- bronze
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4383711280
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4383711280Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1002/ajmg.a.63352Digital Object Identifier
- Title
-
Correction to “A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature”Work title
- Type
-
erratumOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-07-10Full publication date if available
- Authors
-
Von Hardenberg, Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee, Li Zhang, Waheed Awotoye, Tamir Diamond, Jessica I. Gold, Catherine Gooch, Jephthah Gowans, Håkon Håkonarson, Anne Hing, Kathleen M. Loomes, Nicole Martin, Thanuja Selvanayagam, Mary L. Marazita, Tarja Mononen, David A. Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W. Scherer, Nara Sobriera, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C. Murray, Andrew C. Lidral, Azeez Butali, Michael F. Buckley, Tony Roscioli, David A. Koolen, Laurie H. Seaver, Cynthia A. Prows, Rolf W. Stottmann, Timothy C. CoxList of authors in order
- Landing page
-
https://doi.org/10.1002/ajmg.a.63352Publisher landing page
- PDF URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63352Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63352Direct OA link when available
- Concepts
-
Short stature, Tall Stature, Genetics, Hotspot (geology), Biology, Medicine, Pediatrics, Geology, GeophysicsTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4383711280 |
|---|---|
| doi | https://doi.org/10.1002/ajmg.a.63352 |
| ids.doi | https://doi.org/10.1002/ajmg.a.63352 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/37428002 |
| ids.openalex | https://openalex.org/W4383711280 |
| fwci | |
| type | erratum |
| title | Correction to “A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature” |
| biblio.issue | 9 |
| biblio.volume | 191 |
| biblio.last_page | 2455 |
| biblio.first_page | 2454 |
| topics[0].id | https://openalex.org/T11482 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9470999836921692 |
| topics[0].domain.id | https://openalex.org/domains/1 |
| topics[0].domain.display_name | Life Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/1312 |
| topics[0].subfield.display_name | Molecular Biology |
| topics[0].display_name | RNA modifications and cancer |
| topics[1].id | https://openalex.org/T11369 |
| topics[1].field.id | https://openalex.org/fields/27 |
| topics[1].field.display_name | Medicine |
| topics[1].score | 0.9291999936103821 |
| topics[1].domain.id | https://openalex.org/domains/4 |
| topics[1].domain.display_name | Health Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/2734 |
| topics[1].subfield.display_name | Pathology and Forensic Medicine |
| topics[1].display_name | Genetic factors in colorectal cancer |
| is_xpac | False |
| apc_list | |
| apc_paid | |
| concepts[0].id | https://openalex.org/C2777871287 |
| concepts[0].level | 2 |
| concepts[0].score | 0.7261292934417725 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q7502090 |
| concepts[0].display_name | Short stature |
| concepts[1].id | https://openalex.org/C2910005497 |
| concepts[1].level | 2 |
| concepts[1].score | 0.5076183080673218 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q476112 |
| concepts[1].display_name | Tall Stature |
| concepts[2].id | https://openalex.org/C54355233 |
| concepts[2].level | 1 |
| concepts[2].score | 0.4469022750854492 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[2].display_name | Genetics |
| concepts[3].id | https://openalex.org/C146481406 |
| concepts[3].level | 2 |
| concepts[3].score | 0.43829113245010376 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q105131 |
| concepts[3].display_name | Hotspot (geology) |
| concepts[4].id | https://openalex.org/C86803240 |
| concepts[4].level | 0 |
| concepts[4].score | 0.3456581234931946 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[4].display_name | Biology |
| concepts[5].id | https://openalex.org/C71924100 |
| concepts[5].level | 0 |
| concepts[5].score | 0.32003408670425415 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[5].display_name | Medicine |
| concepts[6].id | https://openalex.org/C187212893 |
| concepts[6].level | 1 |
| concepts[6].score | 0.2055603563785553 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q123028 |
| concepts[6].display_name | Pediatrics |
| concepts[7].id | https://openalex.org/C127313418 |
| concepts[7].level | 0 |
| concepts[7].score | 0.05793869495391846 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q1069 |
| concepts[7].display_name | Geology |
| concepts[8].id | https://openalex.org/C8058405 |
| concepts[8].level | 1 |
| concepts[8].score | 0.0 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q46255 |
| concepts[8].display_name | Geophysics |
| keywords[0].id | https://openalex.org/keywords/short-stature |
| keywords[0].score | 0.7261292934417725 |
| keywords[0].display_name | Short stature |
| keywords[1].id | https://openalex.org/keywords/tall-stature |
| keywords[1].score | 0.5076183080673218 |
| keywords[1].display_name | Tall Stature |
| keywords[2].id | https://openalex.org/keywords/genetics |
| keywords[2].score | 0.4469022750854492 |
| keywords[2].display_name | Genetics |
| keywords[3].id | https://openalex.org/keywords/hotspot |
| keywords[3].score | 0.43829113245010376 |
| keywords[3].display_name | Hotspot (geology) |
| keywords[4].id | https://openalex.org/keywords/biology |
| keywords[4].score | 0.3456581234931946 |
| keywords[4].display_name | Biology |
| keywords[5].id | https://openalex.org/keywords/medicine |
| keywords[5].score | 0.32003408670425415 |
| keywords[5].display_name | Medicine |
| keywords[6].id | https://openalex.org/keywords/pediatrics |
| keywords[6].score | 0.2055603563785553 |
| keywords[6].display_name | Pediatrics |
| keywords[7].id | https://openalex.org/keywords/geology |
| keywords[7].score | 0.05793869495391846 |
| keywords[7].display_name | Geology |
| language | en |
| locations[0].id | doi:10.1002/ajmg.a.63352 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S180901878 |
| locations[0].source.issn | 1552-4825, 1552-4833 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | False |
| locations[0].source.issn_l | 1552-4825 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | False |
| locations[0].source.display_name | American Journal of Medical Genetics Part A |
| locations[0].source.host_organization | https://openalex.org/P4310320595 |
| locations[0].source.host_organization_name | Wiley |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310320595 |
| locations[0].license | |
| locations[0].pdf_url | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63352 |
| 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 | American Journal of Medical Genetics Part A |
| locations[0].landing_page_url | https://doi.org/10.1002/ajmg.a.63352 |
| locations[1].id | pmid:37428002 |
| 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 | American journal of medical genetics. Part A |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/37428002 |
| indexed_in | crossref, pubmed |
| authorships[0].author.id | https://openalex.org/A5095235763 |
| authorships[0].author.orcid | |
| authorships[0].author.display_name | Von Hardenberg |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Von Hardenberg |
| authorships[0].is_corresponding | False |
| authorships[1].author.id | https://openalex.org/A5039902923 |
| authorships[1].author.orcid | https://orcid.org/0000-0001-9261-244X |
| authorships[1].author.display_name | Alanna Strong |
| authorships[1].countries | US |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[1].affiliations[0].raw_affiliation_string | . The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[1].affiliations[1].institution_ids | https://openalex.org/I79576946 |
| authorships[1].affiliations[1].raw_affiliation_string | . Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania |
| authorships[1].affiliations[2].institution_ids | https://openalex.org/I1335321130 |
| authorships[1].affiliations[2].raw_affiliation_string | . The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| 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/I79576946 |
| authorships[1].institutions[1].ror | https://ror.org/00b30xv10 |
| authorships[1].institutions[1].type | education |
| authorships[1].institutions[1].lineage | https://openalex.org/I79576946 |
| authorships[1].institutions[1].country_code | US |
| authorships[1].institutions[1].display_name | University of Pennsylvania |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Alanna Strong |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | . Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, . The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, . The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[2].author.id | https://openalex.org/A5000802093 |
| authorships[2].author.orcid | https://orcid.org/0000-0001-7471-0214 |
| authorships[2].author.display_name | Soumya Rao |
| authorships[2].countries | US |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I75421653 |
| authorships[2].affiliations[0].raw_affiliation_string | . Department of Oral & Craniofacial Sciences, School of Dentistry, University of Missouri-Kansas City Kansas City, Missouri |
| authorships[2].institutions[0].id | https://openalex.org/I75421653 |
| authorships[2].institutions[0].ror | https://ror.org/01w0d5g70 |
| authorships[2].institutions[0].type | education |
| authorships[2].institutions[0].lineage | https://openalex.org/I75421653 |
| authorships[2].institutions[0].country_code | US |
| authorships[2].institutions[0].display_name | University of Missouri–Kansas City |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Soumya Rao |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | . Department of Oral & Craniofacial Sciences, School of Dentistry, University of Missouri-Kansas City Kansas City, Missouri |
| authorships[3].author.id | https://openalex.org/A5070531069 |
| authorships[3].author.orcid | https://orcid.org/0000-0002-3680-7450 |
| authorships[3].author.display_name | Sandra von Hardenberg |
| authorships[3].countries | DE |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I34809795 |
| authorships[3].affiliations[0].raw_affiliation_string | . Department of Human Genetics, Hannover Medical School, Hannover, Germany |
| authorships[3].institutions[0].id | https://openalex.org/I34809795 |
| authorships[3].institutions[0].ror | https://ror.org/00f2yqf98 |
| authorships[3].institutions[0].type | education |
| authorships[3].institutions[0].lineage | https://openalex.org/I34809795 |
| authorships[3].institutions[0].country_code | DE |
| authorships[3].institutions[0].display_name | Medizinische Hochschule Hannover |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Sandra Von Hardenberg |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | . Department of Human Genetics, Hannover Medical School, Hannover, Germany |
| authorships[4].author.id | https://openalex.org/A5100407411 |
| authorships[4].author.orcid | https://orcid.org/0000-0002-2265-6727 |
| authorships[4].author.display_name | Dong Li |
| authorships[4].countries | US |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[4].affiliations[0].raw_affiliation_string | . The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[4].affiliations[1].institution_ids | https://openalex.org/I1335321130 |
| authorships[4].affiliations[1].raw_affiliation_string | . The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[4].affiliations[2].institution_ids | https://openalex.org/I79576946 |
| authorships[4].affiliations[2].raw_affiliation_string | . Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania |
| 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/I79576946 |
| authorships[4].institutions[1].ror | https://ror.org/00b30xv10 |
| authorships[4].institutions[1].type | education |
| authorships[4].institutions[1].lineage | https://openalex.org/I79576946 |
| authorships[4].institutions[1].country_code | US |
| authorships[4].institutions[1].display_name | University of Pennsylvania |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Dong Li |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | . Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, . The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, . The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[5].author.id | https://openalex.org/A5041747398 |
| authorships[5].author.orcid | https://orcid.org/0000-0002-0703-7258 |
| authorships[5].author.display_name | Liza L. Cox |
| authorships[5].countries | US |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I75421653 |
| authorships[5].affiliations[0].raw_affiliation_string | . Department of Oral & Craniofacial Sciences, School of Dentistry, University of Missouri-Kansas City Kansas City, Missouri |
| authorships[5].institutions[0].id | https://openalex.org/I75421653 |
| authorships[5].institutions[0].ror | https://ror.org/01w0d5g70 |
| authorships[5].institutions[0].type | education |
| authorships[5].institutions[0].lineage | https://openalex.org/I75421653 |
| authorships[5].institutions[0].country_code | US |
| authorships[5].institutions[0].display_name | University of Missouri–Kansas City |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Liza Cox |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | . Department of Oral & Craniofacial Sciences, School of Dentistry, University of Missouri-Kansas City Kansas City, Missouri |
| authorships[6].author.id | https://openalex.org/A5102831390 |
| authorships[6].author.orcid | https://orcid.org/0000-0002-3846-843X |
| authorships[6].author.display_name | Paul C. Lee |
| authorships[6].countries | US |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I204465549 |
| authorships[6].affiliations[0].raw_affiliation_string | . Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri |
| authorships[6].institutions[0].id | https://openalex.org/I204465549 |
| authorships[6].institutions[0].ror | https://ror.org/01yc7t268 |
| authorships[6].institutions[0].type | education |
| authorships[6].institutions[0].lineage | https://openalex.org/I204465549 |
| authorships[6].institutions[0].country_code | US |
| authorships[6].institutions[0].display_name | Washington University in St. Louis |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Paul Lee |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | . Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri |
| authorships[7].author.id | https://openalex.org/A5100425554 |
| authorships[7].author.orcid | https://orcid.org/0000-0002-3617-2627 |
| authorships[7].author.display_name | Li Zhang |
| authorships[7].countries | US |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I75421653 |
| authorships[7].affiliations[0].raw_affiliation_string | . Department of Oral & Craniofacial Sciences, School of Dentistry, University of Missouri-Kansas City Kansas City, Missouri |
| authorships[7].institutions[0].id | https://openalex.org/I75421653 |
| authorships[7].institutions[0].ror | https://ror.org/01w0d5g70 |
| authorships[7].institutions[0].type | education |
| authorships[7].institutions[0].lineage | https://openalex.org/I75421653 |
| authorships[7].institutions[0].country_code | US |
| authorships[7].institutions[0].display_name | University of Missouri–Kansas City |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Li Zhang |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | . Department of Oral & Craniofacial Sciences, School of Dentistry, University of Missouri-Kansas City Kansas City, Missouri |
| authorships[8].author.id | https://openalex.org/A5021706133 |
| authorships[8].author.orcid | https://orcid.org/0000-0002-5223-6846 |
| authorships[8].author.display_name | Waheed Awotoye |
| authorships[8].countries | US |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I126307644 |
| authorships[8].affiliations[0].raw_affiliation_string | . Department of Orthodontics, College of Dentistry, University of Iowa, Iowa City, Iowa |
| authorships[8].institutions[0].id | https://openalex.org/I126307644 |
| authorships[8].institutions[0].ror | https://ror.org/036jqmy94 |
| authorships[8].institutions[0].type | education |
| authorships[8].institutions[0].lineage | https://openalex.org/I126307644 |
| authorships[8].institutions[0].country_code | US |
| authorships[8].institutions[0].display_name | University of Iowa |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Waheed Awotoye |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | . Department of Orthodontics, College of Dentistry, University of Iowa, Iowa City, Iowa |
| authorships[9].author.id | https://openalex.org/A5077210210 |
| authorships[9].author.orcid | https://orcid.org/0000-0002-1904-5351 |
| authorships[9].author.display_name | Tamir Diamond |
| authorships[9].countries | US |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I79576946 |
| authorships[9].affiliations[0].raw_affiliation_string | . Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania |
| authorships[9].affiliations[1].institution_ids | https://openalex.org/I1335321130 |
| authorships[9].affiliations[1].raw_affiliation_string | . Division of Gastroenterology, Hepatology and Nutrition. Children's Hospital of Philadelphia, Philadelphia, PA |
| 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/I79576946 |
| authorships[9].institutions[1].ror | https://ror.org/00b30xv10 |
| authorships[9].institutions[1].type | education |
| authorships[9].institutions[1].lineage | https://openalex.org/I79576946 |
| authorships[9].institutions[1].country_code | US |
| authorships[9].institutions[1].display_name | University of Pennsylvania |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Tamir Diamond |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | . Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, . Division of Gastroenterology, Hepatology and Nutrition. Children's Hospital of Philadelphia, Philadelphia, PA |
| authorships[10].author.id | https://openalex.org/A5015804895 |
| authorships[10].author.orcid | https://orcid.org/0000-0002-6210-4214 |
| authorships[10].author.display_name | Jessica I. Gold |
| authorships[10].countries | US |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[10].affiliations[0].raw_affiliation_string | . The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| 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].author_position | middle |
| authorships[10].raw_author_name | Jessica Gold |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | . The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[11].author.id | https://openalex.org/A5084251942 |
| authorships[11].author.orcid | https://orcid.org/0000-0002-0919-7933 |
| authorships[11].author.display_name | Catherine Gooch |
| authorships[11].countries | US |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I204465549 |
| authorships[11].affiliations[0].raw_affiliation_string | . Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri |
| authorships[11].institutions[0].id | https://openalex.org/I204465549 |
| authorships[11].institutions[0].ror | https://ror.org/01yc7t268 |
| authorships[11].institutions[0].type | education |
| authorships[11].institutions[0].lineage | https://openalex.org/I204465549 |
| authorships[11].institutions[0].country_code | US |
| authorships[11].institutions[0].display_name | Washington University in St. Louis |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Catherine Gooch |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | . Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri |
| authorships[12].author.id | https://openalex.org/A5094009811 |
| authorships[12].author.orcid | |
| authorships[12].author.display_name | Jephthah Gowans |
| authorships[12].countries | GH |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I28046988 |
| authorships[12].affiliations[0].raw_affiliation_string | . Department of Biochemistry and Biotechnology, Kwame Nkurumah University of Science and Technology, Kumasi, Ghana |
| authorships[12].institutions[0].id | https://openalex.org/I28046988 |
| authorships[12].institutions[0].ror | https://ror.org/00cb23x68 |
| authorships[12].institutions[0].type | education |
| authorships[12].institutions[0].lineage | https://openalex.org/I28046988 |
| authorships[12].institutions[0].country_code | GH |
| authorships[12].institutions[0].display_name | Kwame Nkrumah University of Science and Technology |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | Jephthah Gowans |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | . Department of Biochemistry and Biotechnology, Kwame Nkurumah University of Science and Technology, Kumasi, Ghana |
| authorships[13].author.id | https://openalex.org/A5088244425 |
| authorships[13].author.orcid | https://orcid.org/0000-0003-2814-7461 |
| authorships[13].author.display_name | Håkon Håkonarson |
| authorships[13].countries | US |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I79576946 |
| authorships[13].affiliations[0].raw_affiliation_string | . Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania |
| authorships[13].affiliations[1].raw_affiliation_string | . Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[13].affiliations[2].institution_ids | https://openalex.org/I1335321130 |
| authorships[13].affiliations[2].raw_affiliation_string | . The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[13].affiliations[3].institution_ids | https://openalex.org/I1335321130 |
| authorships[13].affiliations[3].raw_affiliation_string | . The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| 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/I79576946 |
| authorships[13].institutions[1].ror | https://ror.org/00b30xv10 |
| authorships[13].institutions[1].type | education |
| authorships[13].institutions[1].lineage | https://openalex.org/I79576946 |
| authorships[13].institutions[1].country_code | US |
| authorships[13].institutions[1].display_name | University of Pennsylvania |
| authorships[13].author_position | middle |
| authorships[13].raw_author_name | Hakon Hakonarson |
| authorships[13].is_corresponding | False |
| authorships[13].raw_affiliation_strings | . Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, . Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, . The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, . The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[14].author.id | https://openalex.org/A5110468486 |
| authorships[14].author.orcid | https://orcid.org/0000-0002-4206-4227 |
| authorships[14].author.display_name | Anne Hing |
| authorships[14].countries | US |
| authorships[14].affiliations[0].institution_ids | https://openalex.org/I201448701 |
| authorships[14].affiliations[0].raw_affiliation_string | . Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington |
| authorships[14].institutions[0].id | https://openalex.org/I201448701 |
| authorships[14].institutions[0].ror | https://ror.org/00cvxb145 |
| authorships[14].institutions[0].type | education |
| authorships[14].institutions[0].lineage | https://openalex.org/I201448701 |
| authorships[14].institutions[0].country_code | US |
| authorships[14].institutions[0].display_name | University of Washington |
| authorships[14].author_position | middle |
| authorships[14].raw_author_name | Anne Hing |
| authorships[14].is_corresponding | False |
| authorships[14].raw_affiliation_strings | . Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, Washington |
| authorships[15].author.id | https://openalex.org/A5063054175 |
| authorships[15].author.orcid | https://orcid.org/0000-0002-1539-6672 |
| authorships[15].author.display_name | Kathleen M. Loomes |
| authorships[15].countries | US |
| authorships[15].affiliations[0].institution_ids | https://openalex.org/I79576946 |
| authorships[15].affiliations[0].raw_affiliation_string | . Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania |
| authorships[15].affiliations[1].institution_ids | https://openalex.org/I1335321130 |
| authorships[15].affiliations[1].raw_affiliation_string | . Division of Gastroenterology, Hepatology and Nutrition. Children's Hospital of Philadelphia, Philadelphia, PA |
| 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/I79576946 |
| authorships[15].institutions[1].ror | https://ror.org/00b30xv10 |
| authorships[15].institutions[1].type | education |
| authorships[15].institutions[1].lineage | https://openalex.org/I79576946 |
| authorships[15].institutions[1].country_code | US |
| authorships[15].institutions[1].display_name | University of Pennsylvania |
| authorships[15].author_position | middle |
| authorships[15].raw_author_name | Kathleen Loomes |
| authorships[15].is_corresponding | False |
| authorships[15].raw_affiliation_strings | . Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, . Division of Gastroenterology, Hepatology and Nutrition. Children's Hospital of Philadelphia, Philadelphia, PA |
| authorships[16].author.id | https://openalex.org/A5017216242 |
| authorships[16].author.orcid | https://orcid.org/0000-0001-9186-1313 |
| authorships[16].author.display_name | Nicole Martin |
| authorships[16].countries | CA |
| authorships[16].affiliations[0].institution_ids | https://openalex.org/I185261750 |
| authorships[16].affiliations[0].raw_affiliation_string | . Institute of Medical Sciences and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada |
| authorships[16].affiliations[1].institution_ids | https://openalex.org/I2801317318 |
| authorships[16].affiliations[1].raw_affiliation_string | . Division of Clinical & Metabolic Genetics and Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada |
| authorships[16].institutions[0].id | https://openalex.org/I2801317318 |
| authorships[16].institutions[0].ror | https://ror.org/057q4rt57 |
| authorships[16].institutions[0].type | healthcare |
| authorships[16].institutions[0].lineage | https://openalex.org/I2801317318 |
| authorships[16].institutions[0].country_code | CA |
| authorships[16].institutions[0].display_name | Hospital for Sick Children |
| authorships[16].institutions[1].id | https://openalex.org/I185261750 |
| authorships[16].institutions[1].ror | https://ror.org/03dbr7087 |
| authorships[16].institutions[1].type | education |
| authorships[16].institutions[1].lineage | https://openalex.org/I185261750 |
| authorships[16].institutions[1].country_code | CA |
| authorships[16].institutions[1].display_name | University of Toronto |
| authorships[16].author_position | middle |
| authorships[16].raw_author_name | Nicole Martin |
| authorships[16].is_corresponding | False |
| authorships[16].raw_affiliation_strings | . Division of Clinical & Metabolic Genetics and Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada, . Institute of Medical Sciences and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada |
| authorships[17].author.id | https://openalex.org/A5062646235 |
| authorships[17].author.orcid | https://orcid.org/0000-0002-2556-2566 |
| authorships[17].author.display_name | Thanuja Selvanayagam |
| authorships[17].countries | CA |
| authorships[17].affiliations[0].institution_ids | https://openalex.org/I2801317318 |
| authorships[17].affiliations[0].raw_affiliation_string | . Department of Genetic Counseling, Department of Genetics and Genome Biology and Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada |
| authorships[17].institutions[0].id | https://openalex.org/I2801317318 |
| authorships[17].institutions[0].ror | https://ror.org/057q4rt57 |
| authorships[17].institutions[0].type | healthcare |
| authorships[17].institutions[0].lineage | https://openalex.org/I2801317318 |
| authorships[17].institutions[0].country_code | CA |
| authorships[17].institutions[0].display_name | Hospital for Sick Children |
| authorships[17].author_position | middle |
| authorships[17].raw_author_name | Thanuja Selvanayagam |
| authorships[17].is_corresponding | False |
| authorships[17].raw_affiliation_strings | . Department of Genetic Counseling, Department of Genetics and Genome Biology and Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada |
| authorships[18].author.id | https://openalex.org/A5064886913 |
| authorships[18].author.orcid | https://orcid.org/0000-0002-2648-2832 |
| authorships[18].author.display_name | Mary L. Marazita |
| authorships[18].countries | US |
| authorships[18].affiliations[0].institution_ids | https://openalex.org/I170201317 |
| authorships[18].affiliations[0].raw_affiliation_string | . Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA. |
| authorships[18].affiliations[1].raw_affiliation_string | . Department of Oral and Craniofacial Sciences, Center for Craniofacial and Dental Genetics School of Dental Medicine, Pittsburgh, Pennsylvania |
| authorships[18].institutions[0].id | https://openalex.org/I170201317 |
| authorships[18].institutions[0].ror | https://ror.org/01an3r305 |
| authorships[18].institutions[0].type | education |
| authorships[18].institutions[0].lineage | https://openalex.org/I170201317 |
| authorships[18].institutions[0].country_code | US |
| authorships[18].institutions[0].display_name | University of Pittsburgh |
| authorships[18].author_position | middle |
| authorships[18].raw_author_name | Mary Marazita |
| authorships[18].is_corresponding | False |
| authorships[18].raw_affiliation_strings | . Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., . Department of Oral and Craniofacial Sciences, Center for Craniofacial and Dental Genetics School of Dental Medicine, Pittsburgh, Pennsylvania |
| authorships[19].author.id | https://openalex.org/A5062150729 |
| authorships[19].author.orcid | |
| authorships[19].author.display_name | Tarja Mononen |
| authorships[19].countries | FI |
| authorships[19].affiliations[0].institution_ids | https://openalex.org/I4210092991 |
| authorships[19].affiliations[0].raw_affiliation_string | . Department of Clinical Genetics, Kuopio University Hospital, Kuopio, Finland |
| authorships[19].institutions[0].id | https://openalex.org/I4210092991 |
| authorships[19].institutions[0].ror | https://ror.org/00fqdfs68 |
| authorships[19].institutions[0].type | healthcare |
| authorships[19].institutions[0].lineage | https://openalex.org/I4210092991 |
| authorships[19].institutions[0].country_code | FI |
| authorships[19].institutions[0].display_name | Kuopio University Hospital |
| authorships[19].author_position | middle |
| authorships[19].raw_author_name | Tarja Mononen |
| authorships[19].is_corresponding | False |
| authorships[19].raw_affiliation_strings | . Department of Clinical Genetics, Kuopio University Hospital, Kuopio, Finland |
| authorships[20].author.id | https://openalex.org/A5110203818 |
| authorships[20].author.orcid | |
| authorships[20].author.display_name | David A. Piccoli |
| authorships[20].countries | US |
| authorships[20].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[20].affiliations[0].raw_affiliation_string | . Division of Gastroenterology, Hepatology and Nutrition. Children's Hospital of Philadelphia, Philadelphia, PA |
| authorships[20].affiliations[1].institution_ids | https://openalex.org/I79576946 |
| authorships[20].affiliations[1].raw_affiliation_string | . Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania |
| 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/I79576946 |
| authorships[20].institutions[1].ror | https://ror.org/00b30xv10 |
| authorships[20].institutions[1].type | education |
| authorships[20].institutions[1].lineage | https://openalex.org/I79576946 |
| authorships[20].institutions[1].country_code | US |
| authorships[20].institutions[1].display_name | University of Pennsylvania |
| authorships[20].author_position | middle |
| authorships[20].raw_author_name | David Piccoli |
| authorships[20].is_corresponding | False |
| authorships[20].raw_affiliation_strings | . Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, . Division of Gastroenterology, Hepatology and Nutrition. Children's Hospital of Philadelphia, Philadelphia, PA |
| authorships[21].author.id | https://openalex.org/A5016312541 |
| authorships[21].author.orcid | https://orcid.org/0000-0002-0584-4398 |
| authorships[21].author.display_name | Rolph Pfundt |
| authorships[21].countries | NL |
| authorships[21].affiliations[0].institution_ids | https://openalex.org/I145872427, https://openalex.org/I2802934949 |
| authorships[21].affiliations[0].raw_affiliation_string | . Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. |
| authorships[21].institutions[0].id | https://openalex.org/I2802934949 |
| authorships[21].institutions[0].ror | https://ror.org/05wg1m734 |
| authorships[21].institutions[0].type | healthcare |
| authorships[21].institutions[0].lineage | https://openalex.org/I2802934949 |
| authorships[21].institutions[0].country_code | NL |
| authorships[21].institutions[0].display_name | Radboud University Medical Center |
| authorships[21].institutions[1].id | https://openalex.org/I145872427 |
| authorships[21].institutions[1].ror | https://ror.org/016xsfp80 |
| authorships[21].institutions[1].type | education |
| authorships[21].institutions[1].lineage | https://openalex.org/I145872427 |
| authorships[21].institutions[1].country_code | NL |
| authorships[21].institutions[1].display_name | Radboud University Nijmegen |
| authorships[21].author_position | middle |
| authorships[21].raw_author_name | Rolph Pfundt |
| authorships[21].is_corresponding | False |
| authorships[21].raw_affiliation_strings | . Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. |
| authorships[22].author.id | https://openalex.org/A5020462584 |
| authorships[22].author.orcid | https://orcid.org/0000-0002-7191-0592 |
| authorships[22].author.display_name | Salmo Raskin |
| authorships[22].affiliations[0].raw_affiliation_string | . Assistance Center for Cleft Lip and Palate (CAIF), Curitiba-PR, Brazil |
| authorships[22].author_position | middle |
| authorships[22].raw_author_name | Salmo Raskin |
| authorships[22].is_corresponding | False |
| authorships[22].raw_affiliation_strings | . Assistance Center for Cleft Lip and Palate (CAIF), Curitiba-PR, Brazil |
| authorships[23].author.id | https://openalex.org/A5049296994 |
| authorships[23].author.orcid | https://orcid.org/0000-0002-8326-1999 |
| authorships[23].author.display_name | Stephen W. Scherer |
| authorships[23].countries | CA |
| authorships[23].affiliations[0].institution_ids | https://openalex.org/I185261750 |
| authorships[23].affiliations[0].raw_affiliation_string | . McLaughlin Centre and Dept. of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada |
| authorships[23].affiliations[1].institution_ids | https://openalex.org/I2801317318 |
| authorships[23].affiliations[1].raw_affiliation_string | . The Centre for Applied Genomics and Department of Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada |
| authorships[23].institutions[0].id | https://openalex.org/I2801317318 |
| authorships[23].institutions[0].ror | https://ror.org/057q4rt57 |
| authorships[23].institutions[0].type | healthcare |
| authorships[23].institutions[0].lineage | https://openalex.org/I2801317318 |
| authorships[23].institutions[0].country_code | CA |
| authorships[23].institutions[0].display_name | Hospital for Sick Children |
| authorships[23].institutions[1].id | https://openalex.org/I185261750 |
| authorships[23].institutions[1].ror | https://ror.org/03dbr7087 |
| authorships[23].institutions[1].type | education |
| authorships[23].institutions[1].lineage | https://openalex.org/I185261750 |
| authorships[23].institutions[1].country_code | CA |
| authorships[23].institutions[1].display_name | University of Toronto |
| authorships[23].author_position | middle |
| authorships[23].raw_author_name | Stephen Scherer |
| authorships[23].is_corresponding | False |
| authorships[23].raw_affiliation_strings | . McLaughlin Centre and Dept. of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada, . The Centre for Applied Genomics and Department of Genetics & Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada |
| authorships[24].author.id | https://openalex.org/A5112956400 |
| authorships[24].author.orcid | |
| authorships[24].author.display_name | Nara Sobriera |
| authorships[24].countries | US |
| authorships[24].affiliations[0].institution_ids | https://openalex.org/I145311948, https://openalex.org/I2799853436 |
| authorships[24].affiliations[0].raw_affiliation_string | . McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland |
| authorships[24].institutions[0].id | https://openalex.org/I2799853436 |
| authorships[24].institutions[0].ror | https://ror.org/037zgn354 |
| authorships[24].institutions[0].type | healthcare |
| authorships[24].institutions[0].lineage | https://openalex.org/I2799853436 |
| authorships[24].institutions[0].country_code | US |
| authorships[24].institutions[0].display_name | Johns Hopkins Medicine |
| authorships[24].institutions[1].id | https://openalex.org/I145311948 |
| authorships[24].institutions[1].ror | https://ror.org/00za53h95 |
| authorships[24].institutions[1].type | education |
| authorships[24].institutions[1].lineage | https://openalex.org/I145311948 |
| authorships[24].institutions[1].country_code | US |
| authorships[24].institutions[1].display_name | Johns Hopkins University |
| authorships[24].author_position | middle |
| authorships[24].raw_author_name | Nara Sobriera |
| authorships[24].is_corresponding | False |
| authorships[24].raw_affiliation_strings | . McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland |
| authorships[25].author.id | https://openalex.org/A5051341506 |
| authorships[25].author.orcid | |
| authorships[25].author.display_name | Courtney Vaccaro |
| authorships[25].countries | US |
| authorships[25].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[25].affiliations[0].raw_affiliation_string | . The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[25].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[25].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[25].institutions[0].type | healthcare |
| authorships[25].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[25].institutions[0].country_code | US |
| authorships[25].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[25].author_position | middle |
| authorships[25].raw_author_name | Courtney Vaccaro |
| authorships[25].is_corresponding | False |
| authorships[25].raw_affiliation_strings | . The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[26].author.id | https://openalex.org/A5100389066 |
| authorships[26].author.orcid | https://orcid.org/0000-0003-3123-2827 |
| authorships[26].author.display_name | Xiang Wang |
| authorships[26].countries | US |
| authorships[26].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[26].affiliations[0].raw_affiliation_string | . The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[26].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[26].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[26].institutions[0].type | healthcare |
| authorships[26].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[26].institutions[0].country_code | US |
| authorships[26].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[26].author_position | middle |
| authorships[26].raw_author_name | Xiang Wang |
| authorships[26].is_corresponding | False |
| authorships[26].raw_affiliation_strings | . The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[27].author.id | https://openalex.org/A5077816873 |
| authorships[27].author.orcid | https://orcid.org/0000-0002-8044-8344 |
| authorships[27].author.display_name | Deborah Watson |
| authorships[27].countries | US |
| authorships[27].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[27].affiliations[0].raw_affiliation_string | . The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[27].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[27].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[27].institutions[0].type | healthcare |
| authorships[27].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[27].institutions[0].country_code | US |
| authorships[27].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[27].author_position | middle |
| authorships[27].raw_author_name | Deborah Watson |
| authorships[27].is_corresponding | False |
| authorships[27].raw_affiliation_strings | . The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[28].author.id | https://openalex.org/A5036444068 |
| authorships[28].author.orcid | https://orcid.org/0000-0002-6501-4150 |
| authorships[28].author.display_name | Rosanna Weksberg |
| authorships[28].countries | CA |
| authorships[28].affiliations[0].institution_ids | https://openalex.org/I2801317318, https://openalex.org/I4210141030 |
| authorships[28].affiliations[0].raw_affiliation_string | . Division of Clinical & Metabolic Genetics, Department of Pediatrics, and Genetics and Genome Biology Program, Research Institute, The Hos-pital for Sick Children, Toronto, Ontario, Canada |
| authorships[28].affiliations[1].institution_ids | https://openalex.org/I185261750 |
| authorships[28].affiliations[1].raw_affiliation_string | . Institute of Medical Sciences and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada |
| authorships[28].institutions[0].id | https://openalex.org/I2801317318 |
| authorships[28].institutions[0].ror | https://ror.org/057q4rt57 |
| authorships[28].institutions[0].type | healthcare |
| authorships[28].institutions[0].lineage | https://openalex.org/I2801317318 |
| authorships[28].institutions[0].country_code | CA |
| authorships[28].institutions[0].display_name | Hospital for Sick Children |
| authorships[28].institutions[1].id | https://openalex.org/I4210141030 |
| authorships[28].institutions[1].ror | https://ror.org/04374qe70 |
| authorships[28].institutions[1].type | nonprofit |
| authorships[28].institutions[1].lineage | https://openalex.org/I4210141030 |
| authorships[28].institutions[1].country_code | CA |
| authorships[28].institutions[1].display_name | SickKids Foundation |
| authorships[28].institutions[2].id | https://openalex.org/I185261750 |
| authorships[28].institutions[2].ror | https://ror.org/03dbr7087 |
| authorships[28].institutions[2].type | education |
| authorships[28].institutions[2].lineage | https://openalex.org/I185261750 |
| authorships[28].institutions[2].country_code | CA |
| authorships[28].institutions[2].display_name | University of Toronto |
| authorships[28].author_position | middle |
| authorships[28].raw_author_name | Rosanna Weksberg |
| authorships[28].is_corresponding | False |
| authorships[28].raw_affiliation_strings | . Division of Clinical & Metabolic Genetics, Department of Pediatrics, and Genetics and Genome Biology Program, Research Institute, The Hos-pital for Sick Children, Toronto, Ontario, Canada, . Institute of Medical Sciences and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada |
| authorships[29].author.id | https://openalex.org/A5091497415 |
| authorships[29].author.orcid | https://orcid.org/0000-0001-5748-3507 |
| authorships[29].author.display_name | Elizabeth Bhoj |
| authorships[29].countries | US |
| authorships[29].affiliations[0].institution_ids | https://openalex.org/I1335321130 |
| authorships[29].affiliations[0].raw_affiliation_string | . The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[29].affiliations[1].institution_ids | https://openalex.org/I79576946 |
| authorships[29].affiliations[1].raw_affiliation_string | . Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania |
| authorships[29].affiliations[2].institution_ids | https://openalex.org/I1335321130 |
| authorships[29].affiliations[2].raw_affiliation_string | . The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[29].affiliations[3].raw_affiliation_string | . Division of Genomic Diagnostics and Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[29].institutions[0].id | https://openalex.org/I1335321130 |
| authorships[29].institutions[0].ror | https://ror.org/01z7r7q48 |
| authorships[29].institutions[0].type | healthcare |
| authorships[29].institutions[0].lineage | https://openalex.org/I1335321130 |
| authorships[29].institutions[0].country_code | US |
| authorships[29].institutions[0].display_name | Children's Hospital of Philadelphia |
| authorships[29].institutions[1].id | https://openalex.org/I79576946 |
| authorships[29].institutions[1].ror | https://ror.org/00b30xv10 |
| authorships[29].institutions[1].type | education |
| authorships[29].institutions[1].lineage | https://openalex.org/I79576946 |
| authorships[29].institutions[1].country_code | US |
| authorships[29].institutions[1].display_name | University of Pennsylvania |
| authorships[29].author_position | middle |
| authorships[29].raw_author_name | Elizabeth Bhoj |
| authorships[29].is_corresponding | False |
| authorships[29].raw_affiliation_strings | . Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, . Division of Genomic Diagnostics and Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, . The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, . The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania |
| authorships[30].author.id | https://openalex.org/A5103980883 |
| authorships[30].author.orcid | |
| authorships[30].author.display_name | Jeffrey C. Murray |
| authorships[30].countries | US |
| authorships[30].affiliations[0].institution_ids | https://openalex.org/I126307644 |
| authorships[30].affiliations[0].raw_affiliation_string | . Department of Pediatrics, University of Iowa, Iowa City, Iowa |
| authorships[30].institutions[0].id | https://openalex.org/I126307644 |
| authorships[30].institutions[0].ror | https://ror.org/036jqmy94 |
| authorships[30].institutions[0].type | education |
| authorships[30].institutions[0].lineage | https://openalex.org/I126307644 |
| authorships[30].institutions[0].country_code | US |
| authorships[30].institutions[0].display_name | University of Iowa |
| authorships[30].author_position | middle |
| authorships[30].raw_author_name | Jeffrey Murray |
| authorships[30].is_corresponding | False |
| authorships[30].raw_affiliation_strings | . Department of Pediatrics, University of Iowa, Iowa City, Iowa |
| authorships[31].author.id | https://openalex.org/A5024828337 |
| authorships[31].author.orcid | |
| authorships[31].author.display_name | Andrew C. Lidral |
| authorships[31].author_position | middle |
| authorships[31].raw_author_name | Andrew Lidral |
| authorships[31].is_corresponding | False |
| authorships[32].author.id | https://openalex.org/A5044444636 |
| authorships[32].author.orcid | https://orcid.org/0000-0002-1229-5964 |
| authorships[32].author.display_name | Azeez Butali |
| authorships[32].author_position | middle |
| authorships[32].raw_author_name | Azeez Butali |
| authorships[32].is_corresponding | False |
| authorships[33].author.id | https://openalex.org/A5107206201 |
| authorships[33].author.orcid | https://orcid.org/0000-0002-8298-8758 |
| authorships[33].author.display_name | Michael F. Buckley |
| authorships[33].author_position | middle |
| authorships[33].raw_author_name | Michael Buckley |
| authorships[33].is_corresponding | False |
| authorships[34].author.id | https://openalex.org/A5030784929 |
| authorships[34].author.orcid | https://orcid.org/0000-0003-1502-5000 |
| authorships[34].author.display_name | Tony Roscioli |
| authorships[34].author_position | middle |
| authorships[34].raw_author_name | Tony Roscioli |
| authorships[34].is_corresponding | False |
| authorships[35].author.id | https://openalex.org/A5113087903 |
| authorships[35].author.orcid | |
| authorships[35].author.display_name | David A. Koolen |
| authorships[35].countries | NL |
| authorships[35].affiliations[0].institution_ids | https://openalex.org/I145872427, https://openalex.org/I2802934949 |
| authorships[35].affiliations[0].raw_affiliation_string | . Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. |
| authorships[35].institutions[0].id | https://openalex.org/I2802934949 |
| authorships[35].institutions[0].ror | https://ror.org/05wg1m734 |
| authorships[35].institutions[0].type | healthcare |
| authorships[35].institutions[0].lineage | https://openalex.org/I2802934949 |
| authorships[35].institutions[0].country_code | NL |
| authorships[35].institutions[0].display_name | Radboud University Medical Center |
| authorships[35].institutions[1].id | https://openalex.org/I145872427 |
| authorships[35].institutions[1].ror | https://ror.org/016xsfp80 |
| authorships[35].institutions[1].type | education |
| authorships[35].institutions[1].lineage | https://openalex.org/I145872427 |
| authorships[35].institutions[1].country_code | NL |
| authorships[35].institutions[1].display_name | Radboud University Nijmegen |
| authorships[35].author_position | middle |
| authorships[35].raw_author_name | David Koolen |
| authorships[35].is_corresponding | False |
| authorships[35].raw_affiliation_strings | . Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. |
| authorships[36].author.id | https://openalex.org/A5004854681 |
| authorships[36].author.orcid | https://orcid.org/0000-0001-9136-101X |
| authorships[36].author.display_name | Laurie H. Seaver |
| authorships[36].author_position | middle |
| authorships[36].raw_author_name | Laurie Seaver |
| authorships[36].is_corresponding | False |
| authorships[37].author.id | https://openalex.org/A5087751026 |
| authorships[37].author.orcid | https://orcid.org/0000-0002-6234-4525 |
| authorships[37].author.display_name | Cynthia A. Prows |
| authorships[37].author_position | middle |
| authorships[37].raw_author_name | Cynthia Prows |
| authorships[37].is_corresponding | False |
| authorships[38].author.id | https://openalex.org/A5069781484 |
| authorships[38].author.orcid | https://orcid.org/0000-0003-4512-6806 |
| authorships[38].author.display_name | Rolf W. Stottmann |
| authorships[38].author_position | middle |
| authorships[38].raw_author_name | Rolf Stottmann |
| authorships[38].is_corresponding | False |
| authorships[39].author.id | https://openalex.org/A5068803926 |
| authorships[39].author.orcid | https://orcid.org/0000-0001-8015-5528 |
| authorships[39].author.display_name | Timothy C. Cox |
| authorships[39].countries | US |
| authorships[39].affiliations[0].institution_ids | https://openalex.org/I75421653 |
| authorships[39].affiliations[0].raw_affiliation_string | . Department of Oral & Craniofacial Sciences, School of Dentistry, University of Missouri-Kansas City Kansas City, Missouri |
| authorships[39].institutions[0].id | https://openalex.org/I75421653 |
| authorships[39].institutions[0].ror | https://ror.org/01w0d5g70 |
| authorships[39].institutions[0].type | education |
| authorships[39].institutions[0].lineage | https://openalex.org/I75421653 |
| authorships[39].institutions[0].country_code | US |
| authorships[39].institutions[0].display_name | University of Missouri–Kansas City |
| authorships[39].author_position | last |
| authorships[39].raw_author_name | Timothy Cox |
| authorships[39].is_corresponding | False |
| authorships[39].raw_affiliation_strings | . Department of Oral & Craniofacial Sciences, School of Dentistry, University of Missouri-Kansas City Kansas City, Missouri |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63352 |
| open_access.oa_status | bronze |
| open_access.any_repository_has_fulltext | False |
| created_date | 2023-07-11T00:00:00 |
| display_name | Correction to “A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature” |
| has_fulltext | False |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T11482 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9470999836921692 |
| primary_topic.domain.id | https://openalex.org/domains/1 |
| primary_topic.domain.display_name | Life Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/1312 |
| primary_topic.subfield.display_name | Molecular Biology |
| primary_topic.display_name | RNA modifications and cancer |
| related_works | https://openalex.org/W2189737676, https://openalex.org/W2130050131, https://openalex.org/W2596130944, https://openalex.org/W2417579828, https://openalex.org/W2900147746, https://openalex.org/W2946818496, https://openalex.org/W1987718550, https://openalex.org/W4224238015, https://openalex.org/W2734094885, https://openalex.org/W3007270536 |
| cited_by_count | 0 |
| locations_count | 2 |
| best_oa_location.id | doi:10.1002/ajmg.a.63352 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S180901878 |
| best_oa_location.source.issn | 1552-4825, 1552-4833 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | False |
| best_oa_location.source.issn_l | 1552-4825 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | American Journal of Medical Genetics Part A |
| best_oa_location.source.host_organization | https://openalex.org/P4310320595 |
| best_oa_location.source.host_organization_name | Wiley |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310320595 |
| best_oa_location.license | |
| best_oa_location.pdf_url | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63352 |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | American Journal of Medical Genetics Part A |
| best_oa_location.landing_page_url | https://doi.org/10.1002/ajmg.a.63352 |
| primary_location.id | doi:10.1002/ajmg.a.63352 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S180901878 |
| primary_location.source.issn | 1552-4825, 1552-4833 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | 1552-4825 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | American Journal of Medical Genetics Part A |
| primary_location.source.host_organization | https://openalex.org/P4310320595 |
| primary_location.source.host_organization_name | Wiley |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310320595 |
| primary_location.license | |
| primary_location.pdf_url | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63352 |
| 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 | American Journal of Medical Genetics Part A |
| primary_location.landing_page_url | https://doi.org/10.1002/ajmg.a.63352 |
| publication_date | 2023-07-10 |
| publication_year | 2023 |
| referenced_works_count | 0 |
| abstract_inverted_index | |
| cited_by_percentile_year | |
| countries_distinct_count | 6 |
| institutions_distinct_count | 40 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/5 |
| sustainable_development_goals[0].score | 0.6299999952316284 |
| sustainable_development_goals[0].display_name | Gender equality |
| citation_normalized_percentile.value | 0.26639497 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |