Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features Article Swipe
Morad Ansari
,
Kamli N. W. Faour
,
Akiko Shimamura
,
Graeme R. Grimes
,
Emeline M. Kao
,
Erica R. Denhoff
,
Ana Blatnik
,
Daniel Ben-Isvy
,
Lily Wang
,
Benjamin M. Helm
,
Helen V. Firth
,
Amy M. Breman
,
Emilia K. Bijlsma
,
Aiko Iwata‐Otsubo
,
Thomy de Ravel
,
Vincent A. Fusaro
,
Alan Fryer
,
Keith Nykamp
,
Lara G. Stühn
,
Tobias B. Haack
,
G. Christoph Korenke
,
Panayiotis Constantinou
,
Kinga M. Bujakowska
,
Karen Low
,
Emily Place
,
Jennifer B. Humberson
,
Melanie P. Napier
,
Jessica F. Hoffman
,
Jane Juusola
,
Matthew A. Deardorff
,
Wanqing Shao
,
Shira Rockowitz
,
Ian D. Krantz
,
Maninder Kaur
,
Sarah E. Raible
,
Victoria Dortenzio
,
Sabine Kliesch
,
Moriel Singer‐Berk
,
Emily Groopman
,
Stephanie DiTroia
,
Sonia Ballal
,
Siddharth Srivastava
,
Kathrin Rothfelder
,
Saskia Biskup
,
Jessica Rzasa
,
Jennifer Kerkhof
,
Haley McConkey
,
Bekim Sadiković
,
Sarah K. Hilton
,
Siddharth Banka
,
Frank Tüttelmann
,
Donald F. Conrad
,
Anne O’Donnell‐Luria
,
Michael E. Talkowski
,
David Fitzpatrick
,
Philip M. Boone
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1016/j.xhgg.2024.100273
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1016/j.xhgg.2024.100273
Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However, the spectrum of manifestations associated with SMC3 loss-of-function variants has not been reported, leading to hypotheses of alternative phenotypes or even developmental lethality. We used matchmaking servers, patient registries, and other resources to identify individuals with heterozygous, predicted loss-of-function (pLoF) variants in SMC3, and analyzed population databases to characterize mutational intolerance in this gene. Here, we show that SMC3 behaves as an archetypal haploinsufficient gene: it is highly constrained against pLoF variants, strongly depleted for missense variants, and pLoF variants are associated with a range of developmental phenotypes. Among 14 individuals with SMC3 pLoF variants, phenotypes were variable but coalesced on low growth parameters, developmental delay/intellectual disability, and dysmorphism, reminiscent of atypical CdLS. Comparisons to individuals with SMC3 missense/in-frame indel variants demonstrated an overall milder presentation in pLoF carriers. Furthermore, several individuals harboring pLoF variants in SMC3 were nonpenetrant for growth, developmental, and/or dysmorphic features, and some had alternative symptomatologies with rational biological links to SMC3. Analyses of tumor and model system transcriptomic data and epigenetic data in a subset of cases suggest that SMC3 pLoF variants reduce SMC3 expression but do not strongly support clustering with functional genomic signatures of typical CdLS. Our finding of substantial population-scale LoF intolerance in concert with variable growth and developmental features in subjects with SMC3 pLoF variants expands the scope of cohesinopathies, informs on their allelic architecture, and suggests the existence of additional clearly LoF-constrained genes whose disease links will be confirmed only by multilayered genomic data paired with careful phenotyping.
Related Topics
Concepts
Biology
Missense mutation
Genetics
Loss function
Human genetics
Phenotype
Population
Indel
Intellectual disability
Gene
Single-nucleotide polymorphism
Genotype
Demography
Sociology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1016/j.xhgg.2024.100273
- OA Status
- gold
- Cited By
- 2
- References
- 84
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4391349613
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4391349613Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1016/j.xhgg.2024.100273Digital Object Identifier
- Title
-
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-01-30Full publication date if available
- Authors
-
Morad Ansari, Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen V. Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata‐Otsubo, Thomy de Ravel, Vincent A. Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen Low, Emily Place, Jennifer B. Humberson, Melanie P. Napier, Jessica F. Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian D. Krantz, Maninder Kaur, Sarah E. Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer‐Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadiković, Sarah K. Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell‐Luria, Michael E. Talkowski, David Fitzpatrick, Philip M. BooneList of authors in order
- Landing page
-
https://doi.org/10.1016/j.xhgg.2024.100273Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.1016/j.xhgg.2024.100273Direct OA link when available
- Concepts
-
Biology, Missense mutation, Genetics, Loss function, Human genetics, Phenotype, Population, Indel, Intellectual disability, Gene, Single-nucleotide polymorphism, Genotype, Demography, SociologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
2Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 1Per-year citation counts (last 5 years)
- References (count)
-
84Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4391349613 |
|---|---|
| doi | https://doi.org/10.1016/j.xhgg.2024.100273 |
| ids.doi | https://doi.org/10.1016/j.xhgg.2024.100273 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/38297832 |
| ids.openalex | https://openalex.org/W4391349613 |
| fwci | 0.96049445 |
| mesh[0].qualifier_ui | |
| mesh[0].descriptor_ui | D006801 |
| mesh[0].is_major_topic | False |
| mesh[0].qualifier_name | |
| mesh[0].descriptor_name | Humans |
| mesh[1].qualifier_ui | Q000235 |
| mesh[1].descriptor_ui | D018797 |
| mesh[1].is_major_topic | False |
| mesh[1].qualifier_name | genetics |
| mesh[1].descriptor_name | Cell Cycle Proteins |
| mesh[2].qualifier_ui | Q000235 |
| mesh[2].descriptor_ui | D011508 |
| mesh[2].is_major_topic | False |
| mesh[2].qualifier_name | genetics |
| mesh[2].descriptor_name | Chondroitin Sulfate Proteoglycans |
| mesh[3].qualifier_ui | Q000235 |
| mesh[3].descriptor_ui | D002868 |
| mesh[3].is_major_topic | False |
| mesh[3].qualifier_name | genetics |
| mesh[3].descriptor_name | Chromosomal Proteins, Non-Histone |
| mesh[4].qualifier_ui | Q000235 |
| mesh[4].descriptor_ui | D003635 |
| mesh[4].is_major_topic | True |
| mesh[4].qualifier_name | genetics |
| mesh[4].descriptor_name | De Lange Syndrome |
| mesh[5].qualifier_ui | |
| mesh[5].descriptor_ui | D006579 |
| mesh[5].is_major_topic | False |
| mesh[5].qualifier_name | |
| mesh[5].descriptor_name | Heterozygote |
| mesh[6].qualifier_ui | Q000235 |
| mesh[6].descriptor_ui | D008607 |
| mesh[6].is_major_topic | True |
| mesh[6].qualifier_name | genetics |
| mesh[6].descriptor_name | Intellectual Disability |
| mesh[7].qualifier_ui | |
| mesh[7].descriptor_ui | D009154 |
| mesh[7].is_major_topic | False |
| mesh[7].qualifier_name | |
| mesh[7].descriptor_name | Mutation |
| mesh[8].qualifier_ui | |
| mesh[8].descriptor_ui | D010641 |
| mesh[8].is_major_topic | False |
| mesh[8].qualifier_name | |
| mesh[8].descriptor_name | Phenotype |
| mesh[9].qualifier_ui | |
| mesh[9].descriptor_ui | D006801 |
| mesh[9].is_major_topic | False |
| mesh[9].qualifier_name | |
| mesh[9].descriptor_name | Humans |
| mesh[10].qualifier_ui | Q000235 |
| mesh[10].descriptor_ui | D008607 |
| mesh[10].is_major_topic | True |
| mesh[10].qualifier_name | genetics |
| mesh[10].descriptor_name | Intellectual Disability |
| mesh[11].qualifier_ui | |
| mesh[11].descriptor_ui | D009154 |
| mesh[11].is_major_topic | False |
| mesh[11].qualifier_name | |
| mesh[11].descriptor_name | Mutation |
| mesh[12].qualifier_ui | |
| mesh[12].descriptor_ui | D010641 |
| mesh[12].is_major_topic | False |
| mesh[12].qualifier_name | |
| mesh[12].descriptor_name | Phenotype |
| mesh[13].qualifier_ui | |
| mesh[13].descriptor_ui | D006579 |
| mesh[13].is_major_topic | False |
| mesh[13].qualifier_name | |
| mesh[13].descriptor_name | Heterozygote |
| mesh[14].qualifier_ui | |
| mesh[14].descriptor_ui | D019656 |
| mesh[14].is_major_topic | False |
| mesh[14].qualifier_name | |
| mesh[14].descriptor_name | Loss of Heterozygosity |
| mesh[15].qualifier_ui | Q000235 |
| mesh[15].descriptor_ui | D003635 |
| mesh[15].is_major_topic | True |
| mesh[15].qualifier_name | genetics |
| mesh[15].descriptor_name | De Lange Syndrome |
| mesh[16].qualifier_ui | Q000235 |
| mesh[16].descriptor_ui | D002868 |
| mesh[16].is_major_topic | False |
| mesh[16].qualifier_name | genetics |
| mesh[16].descriptor_name | Chromosomal Proteins, Non-Histone |
| mesh[17].qualifier_ui | Q000235 |
| mesh[17].descriptor_ui | D011508 |
| mesh[17].is_major_topic | False |
| mesh[17].qualifier_name | genetics |
| mesh[17].descriptor_name | Chondroitin Sulfate Proteoglycans |
| mesh[18].qualifier_ui | Q000235 |
| mesh[18].descriptor_ui | D018797 |
| mesh[18].is_major_topic | False |
| mesh[18].qualifier_name | genetics |
| mesh[18].descriptor_name | Cell Cycle Proteins |
| mesh[19].qualifier_ui | |
| mesh[19].descriptor_ui | D006801 |
| mesh[19].is_major_topic | False |
| mesh[19].qualifier_name | |
| mesh[19].descriptor_name | Humans |
| mesh[20].qualifier_ui | Q000235 |
| mesh[20].descriptor_ui | D018797 |
| mesh[20].is_major_topic | False |
| mesh[20].qualifier_name | genetics |
| mesh[20].descriptor_name | Cell Cycle Proteins |
| mesh[21].qualifier_ui | Q000235 |
| mesh[21].descriptor_ui | D011508 |
| mesh[21].is_major_topic | False |
| mesh[21].qualifier_name | genetics |
| mesh[21].descriptor_name | Chondroitin Sulfate Proteoglycans |
| mesh[22].qualifier_ui | Q000235 |
| mesh[22].descriptor_ui | D002868 |
| mesh[22].is_major_topic | False |
| mesh[22].qualifier_name | genetics |
| mesh[22].descriptor_name | Chromosomal Proteins, Non-Histone |
| mesh[23].qualifier_ui | Q000235 |
| mesh[23].descriptor_ui | D003635 |
| mesh[23].is_major_topic | True |
| mesh[23].qualifier_name | genetics |
| mesh[23].descriptor_name | De Lange Syndrome |
| mesh[24].qualifier_ui | |
| mesh[24].descriptor_ui | D006579 |
| mesh[24].is_major_topic | False |
| mesh[24].qualifier_name | |
| mesh[24].descriptor_name | Heterozygote |
| mesh[25].qualifier_ui | Q000235 |
| mesh[25].descriptor_ui | D008607 |
| mesh[25].is_major_topic | True |
| mesh[25].qualifier_name | genetics |
| mesh[25].descriptor_name | Intellectual Disability |
| mesh[26].qualifier_ui | |
| mesh[26].descriptor_ui | D009154 |
| mesh[26].is_major_topic | False |
| mesh[26].qualifier_name | |
| mesh[26].descriptor_name | Mutation |
| mesh[27].qualifier_ui | |
| mesh[27].descriptor_ui | D010641 |
| mesh[27].is_major_topic | False |
| mesh[27].qualifier_name | |
| mesh[27].descriptor_name | Phenotype |
| mesh[28].qualifier_ui | |
| mesh[28].descriptor_ui | D006801 |
| mesh[28].is_major_topic | False |
| mesh[28].qualifier_name | |
| mesh[28].descriptor_name | Humans |
| mesh[29].qualifier_ui | Q000235 |
| mesh[29].descriptor_ui | D018797 |
| mesh[29].is_major_topic | False |
| mesh[29].qualifier_name | genetics |
| mesh[29].descriptor_name | Cell Cycle Proteins |
| mesh[30].qualifier_ui | Q000235 |
| mesh[30].descriptor_ui | D011508 |
| mesh[30].is_major_topic | False |
| mesh[30].qualifier_name | genetics |
| mesh[30].descriptor_name | Chondroitin Sulfate Proteoglycans |
| mesh[31].qualifier_ui | Q000235 |
| mesh[31].descriptor_ui | D002868 |
| mesh[31].is_major_topic | False |
| mesh[31].qualifier_name | genetics |
| mesh[31].descriptor_name | Chromosomal Proteins, Non-Histone |
| mesh[32].qualifier_ui | Q000235 |
| mesh[32].descriptor_ui | D003635 |
| mesh[32].is_major_topic | True |
| mesh[32].qualifier_name | genetics |
| mesh[32].descriptor_name | De Lange Syndrome |
| mesh[33].qualifier_ui | |
| mesh[33].descriptor_ui | D006579 |
| mesh[33].is_major_topic | False |
| mesh[33].qualifier_name | |
| mesh[33].descriptor_name | Heterozygote |
| mesh[34].qualifier_ui | Q000235 |
| mesh[34].descriptor_ui | D008607 |
| mesh[34].is_major_topic | True |
| mesh[34].qualifier_name | genetics |
| mesh[34].descriptor_name | Intellectual Disability |
| mesh[35].qualifier_ui | |
| mesh[35].descriptor_ui | D009154 |
| mesh[35].is_major_topic | False |
| mesh[35].qualifier_name | |
| mesh[35].descriptor_name | Mutation |
| mesh[36].qualifier_ui | |
| mesh[36].descriptor_ui | D010641 |
| mesh[36].is_major_topic | False |
| mesh[36].qualifier_name | |
| mesh[36].descriptor_name | Phenotype |
| mesh[37].qualifier_ui | |
| mesh[37].descriptor_ui | D006801 |
| mesh[37].is_major_topic | False |
| mesh[37].qualifier_name | |
| mesh[37].descriptor_name | Humans |
| mesh[38].qualifier_ui | Q000235 |
| mesh[38].descriptor_ui | D018797 |
| mesh[38].is_major_topic | False |
| mesh[38].qualifier_name | genetics |
| mesh[38].descriptor_name | Cell Cycle Proteins |
| mesh[39].qualifier_ui | Q000235 |
| mesh[39].descriptor_ui | D011508 |
| mesh[39].is_major_topic | False |
| mesh[39].qualifier_name | genetics |
| mesh[39].descriptor_name | Chondroitin Sulfate Proteoglycans |
| mesh[40].qualifier_ui | Q000235 |
| mesh[40].descriptor_ui | D002868 |
| mesh[40].is_major_topic | False |
| mesh[40].qualifier_name | genetics |
| mesh[40].descriptor_name | Chromosomal Proteins, Non-Histone |
| mesh[41].qualifier_ui | Q000235 |
| mesh[41].descriptor_ui | D003635 |
| mesh[41].is_major_topic | True |
| mesh[41].qualifier_name | genetics |
| mesh[41].descriptor_name | De Lange Syndrome |
| mesh[42].qualifier_ui | |
| mesh[42].descriptor_ui | D006579 |
| mesh[42].is_major_topic | False |
| mesh[42].qualifier_name | |
| mesh[42].descriptor_name | Heterozygote |
| mesh[43].qualifier_ui | Q000235 |
| mesh[43].descriptor_ui | D008607 |
| mesh[43].is_major_topic | True |
| mesh[43].qualifier_name | genetics |
| mesh[43].descriptor_name | Intellectual Disability |
| mesh[44].qualifier_ui | |
| mesh[44].descriptor_ui | D009154 |
| mesh[44].is_major_topic | False |
| mesh[44].qualifier_name | |
| mesh[44].descriptor_name | Mutation |
| mesh[45].qualifier_ui | |
| mesh[45].descriptor_ui | D010641 |
| mesh[45].is_major_topic | False |
| mesh[45].qualifier_name | |
| mesh[45].descriptor_name | Phenotype |
| type | article |
| title | Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features |
| awards[0].id | https://openalex.org/G6199411242 |
| awards[0].funder_id | https://openalex.org/F4320334626 |
| awards[0].display_name | |
| awards[0].funder_award_id | MC_UU_00007/3 |
| awards[0].funder_display_name | Medical Research Council |
| biblio.issue | 2 |
| biblio.volume | 5 |
| biblio.last_page | 100273 |
| biblio.first_page | 100273 |
| topics[0].id | https://openalex.org/T10222 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9997000098228455 |
| topics[0].domain.id | https://openalex.org/domains/1 |
| topics[0].domain.display_name | Life Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/1312 |
| topics[0].subfield.display_name | Molecular Biology |
| topics[0].display_name | Genomics and Chromatin Dynamics |
| topics[1].id | https://openalex.org/T11213 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9940000176429749 |
| 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 | Genomic variations and chromosomal abnormalities |
| topics[2].id | https://openalex.org/T10269 |
| topics[2].field.id | https://openalex.org/fields/13 |
| topics[2].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[2].score | 0.9900000095367432 |
| topics[2].domain.id | https://openalex.org/domains/1 |
| topics[2].domain.display_name | Life Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/1312 |
| topics[2].subfield.display_name | Molecular Biology |
| topics[2].display_name | Epigenetics and DNA Methylation |
| funders[0].id | https://openalex.org/F4320334626 |
| funders[0].ror | https://ror.org/03x94j517 |
| funders[0].display_name | Medical Research Council |
| funders[1].id | https://openalex.org/F4320337359 |
| funders[1].ror | https://ror.org/01s5ya894 |
| funders[1].display_name | National Institute of Neurological Disorders and Stroke |
| is_xpac | False |
| apc_list.value | 3000 |
| apc_list.currency | USD |
| apc_list.value_usd | 3000 |
| apc_paid.value | 3000 |
| apc_paid.currency | USD |
| apc_paid.value_usd | 3000 |
| concepts[0].id | https://openalex.org/C86803240 |
| concepts[0].level | 0 |
| concepts[0].score | 0.7814604043960571 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[0].display_name | Biology |
| concepts[1].id | https://openalex.org/C75563809 |
| concepts[1].level | 4 |
| concepts[1].score | 0.6541240215301514 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q2656896 |
| concepts[1].display_name | Missense mutation |
| concepts[2].id | https://openalex.org/C54355233 |
| concepts[2].level | 1 |
| concepts[2].score | 0.6516556143760681 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[2].display_name | Genetics |
| concepts[3].id | https://openalex.org/C105951970 |
| concepts[3].level | 4 |
| concepts[3].score | 0.492696076631546 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q1036748 |
| concepts[3].display_name | Loss function |
| concepts[4].id | https://openalex.org/C47042493 |
| concepts[4].level | 3 |
| concepts[4].score | 0.48192858695983887 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q265799 |
| concepts[4].display_name | Human genetics |
| concepts[5].id | https://openalex.org/C127716648 |
| concepts[5].level | 3 |
| concepts[5].score | 0.4693250060081482 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q104053 |
| concepts[5].display_name | Phenotype |
| concepts[6].id | https://openalex.org/C2908647359 |
| concepts[6].level | 2 |
| concepts[6].score | 0.46492671966552734 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q2625603 |
| concepts[6].display_name | Population |
| concepts[7].id | https://openalex.org/C119054055 |
| concepts[7].level | 5 |
| concepts[7].score | 0.45022812485694885 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q1576681 |
| concepts[7].display_name | Indel |
| concepts[8].id | https://openalex.org/C551499885 |
| concepts[8].level | 2 |
| concepts[8].score | 0.42172902822494507 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q183560 |
| concepts[8].display_name | Intellectual disability |
| concepts[9].id | https://openalex.org/C104317684 |
| concepts[9].level | 2 |
| concepts[9].score | 0.34444302320480347 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[9].display_name | Gene |
| concepts[10].id | https://openalex.org/C153209595 |
| concepts[10].level | 4 |
| concepts[10].score | 0.12430253624916077 |
| concepts[10].wikidata | https://www.wikidata.org/wiki/Q501128 |
| concepts[10].display_name | Single-nucleotide polymorphism |
| concepts[11].id | https://openalex.org/C135763542 |
| concepts[11].level | 3 |
| concepts[11].score | 0.0907713770866394 |
| concepts[11].wikidata | https://www.wikidata.org/wiki/Q106016 |
| concepts[11].display_name | Genotype |
| concepts[12].id | https://openalex.org/C149923435 |
| concepts[12].level | 1 |
| concepts[12].score | 0.0 |
| concepts[12].wikidata | https://www.wikidata.org/wiki/Q37732 |
| concepts[12].display_name | Demography |
| concepts[13].id | https://openalex.org/C144024400 |
| concepts[13].level | 0 |
| concepts[13].score | 0.0 |
| concepts[13].wikidata | https://www.wikidata.org/wiki/Q21201 |
| concepts[13].display_name | Sociology |
| keywords[0].id | https://openalex.org/keywords/biology |
| keywords[0].score | 0.7814604043960571 |
| keywords[0].display_name | Biology |
| keywords[1].id | https://openalex.org/keywords/missense-mutation |
| keywords[1].score | 0.6541240215301514 |
| keywords[1].display_name | Missense mutation |
| keywords[2].id | https://openalex.org/keywords/genetics |
| keywords[2].score | 0.6516556143760681 |
| keywords[2].display_name | Genetics |
| keywords[3].id | https://openalex.org/keywords/loss-function |
| keywords[3].score | 0.492696076631546 |
| keywords[3].display_name | Loss function |
| keywords[4].id | https://openalex.org/keywords/human-genetics |
| keywords[4].score | 0.48192858695983887 |
| keywords[4].display_name | Human genetics |
| keywords[5].id | https://openalex.org/keywords/phenotype |
| keywords[5].score | 0.4693250060081482 |
| keywords[5].display_name | Phenotype |
| keywords[6].id | https://openalex.org/keywords/population |
| keywords[6].score | 0.46492671966552734 |
| keywords[6].display_name | Population |
| keywords[7].id | https://openalex.org/keywords/indel |
| keywords[7].score | 0.45022812485694885 |
| keywords[7].display_name | Indel |
| keywords[8].id | https://openalex.org/keywords/intellectual-disability |
| keywords[8].score | 0.42172902822494507 |
| keywords[8].display_name | Intellectual disability |
| keywords[9].id | https://openalex.org/keywords/gene |
| keywords[9].score | 0.34444302320480347 |
| keywords[9].display_name | Gene |
| keywords[10].id | https://openalex.org/keywords/single-nucleotide-polymorphism |
| keywords[10].score | 0.12430253624916077 |
| keywords[10].display_name | Single-nucleotide polymorphism |
| keywords[11].id | https://openalex.org/keywords/genotype |
| keywords[11].score | 0.0907713770866394 |
| keywords[11].display_name | Genotype |
| language | en |
| locations[0].id | doi:10.1016/j.xhgg.2024.100273 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S4210200806 |
| locations[0].source.issn | 2666-2477 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | True |
| locations[0].source.issn_l | 2666-2477 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | True |
| locations[0].source.display_name | Human Genetics and Genomics Advances |
| locations[0].source.host_organization | https://openalex.org/P4310320990 |
| locations[0].source.host_organization_name | Elsevier BV |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310320990 |
| locations[0].source.host_organization_lineage_names | Elsevier BV |
| locations[0].license | 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 | Human Genetics and Genomics Advances |
| locations[0].landing_page_url | https://doi.org/10.1016/j.xhgg.2024.100273 |
| locations[1].id | pmid:38297832 |
| 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 | HGG advances |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/38297832 |
| locations[2].id | pmh:oai:pubmedcentral.nih.gov:10876629 |
| 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 | cc-by-nc-nd |
| locations[2].pdf_url | https://pmc.ncbi.nlm.nih.gov/articles/PMC10876629/pdf/main.pdf |
| locations[2].version | submittedVersion |
| locations[2].raw_type | Text |
| locations[2].license_id | https://openalex.org/licenses/cc-by-nc-nd |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | HGG Adv |
| locations[2].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/10876629 |
| locations[3].id | pmh:oai:doaj.org/article:be0b7360900245738bb5fa3eedf88913 |
| locations[3].is_oa | False |
| locations[3].source.id | https://openalex.org/S4306401280 |
| locations[3].source.issn | |
| locations[3].source.type | repository |
| locations[3].source.is_oa | False |
| locations[3].source.issn_l | |
| locations[3].source.is_core | False |
| locations[3].source.is_in_doaj | False |
| locations[3].source.display_name | DOAJ (DOAJ: Directory of Open Access Journals) |
| locations[3].source.host_organization | |
| locations[3].source.host_organization_name | |
| locations[3].license | |
| locations[3].pdf_url | |
| locations[3].version | submittedVersion |
| locations[3].raw_type | article |
| locations[3].license_id | |
| locations[3].is_accepted | False |
| locations[3].is_published | False |
| locations[3].raw_source_name | HGG Advances, Vol 5, Iss 2, Pp 100273- (2024) |
| locations[3].landing_page_url | https://doaj.org/article/be0b7360900245738bb5fa3eedf88913 |
| locations[4].id | pmh:oai:pure.atira.dk:openaire_cris_publications/15887bad-c921-4439-8afb-db4a9d6b7c42 |
| locations[4].is_oa | True |
| locations[4].source.id | https://openalex.org/S4306400216 |
| locations[4].source.issn | |
| locations[4].source.type | repository |
| locations[4].source.is_oa | False |
| locations[4].source.issn_l | |
| locations[4].source.is_core | False |
| locations[4].source.is_in_doaj | False |
| locations[4].source.display_name | Research Portal (King's College London) |
| locations[4].source.host_organization | https://openalex.org/I183935753 |
| locations[4].source.host_organization_name | King's College London |
| locations[4].source.host_organization_lineage | https://openalex.org/I183935753 |
| locations[4].license | other-oa |
| locations[4].pdf_url | |
| locations[4].version | submittedVersion |
| locations[4].raw_type | article |
| locations[4].license_id | https://openalex.org/licenses/other-oa |
| locations[4].is_accepted | False |
| locations[4].is_published | False |
| locations[4].raw_source_name | Ansari, M, Faour, K N W, Shimamura, A, Grimes, G, Kao, E M, Denhoff, E R, Blatnik, A, Ben-Isvy, D, Wang, L, Helm, B M, Firth, H, Breman, A M, Bijlsma, E K, Iwata-Otsubo, A, de Ravel, T J L, Fusaro, V, Fryer, A, Nykamp, K, Stühn, L G, Haack, T B, Korenke, G C, Constantinou, P, Bujakowska, K M, Low, K J, Place, E, Humberson, J, Napier, M P, Hoffman, J, Juusola, J, Deardorff, M A, Shao, W, Rockowitz, S, Krantz, I, Kaur, M, Raible, S, Dortenzio, V, Kliesch, S, Singer-Berk, M, Groopman, E, DiTroia, S, Ballal, S, Srivastava, S, Rothfelder, K, Biskup, S, Rzasa, J, Kerkhof, J, McConkey, H, Sadikovic, B, Hilton, S, Banka, S, Tüttelmann, F, Conrad, D, O'Donnell-Luria, A, Talkowski, M E, FitzPatrick, D R & Boone, P M 2024, 'Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features', Human Genetics and Genomics Advances, vol. 5, no. 2, 100273. https://doi.org/10.1016/j.xhgg.2024.100273 |
| locations[4].landing_page_url | https://research.manchester.ac.uk/en/publications/15887bad-c921-4439-8afb-db4a9d6b7c42 |
| locations[5].id | pmh:oai:scholarlypublications.universiteitleiden.nl:item_4195883 |
| locations[5].is_oa | True |
| locations[5].source.id | https://openalex.org/S4210200806 |
| locations[5].source.issn | 2666-2477 |
| locations[5].source.type | journal |
| locations[5].source.is_oa | True |
| locations[5].source.issn_l | 2666-2477 |
| locations[5].source.is_core | True |
| locations[5].source.is_in_doaj | True |
| locations[5].source.display_name | Human Genetics and Genomics Advances |
| locations[5].source.host_organization | https://openalex.org/P4310320990 |
| locations[5].source.host_organization_name | Elsevier BV |
| locations[5].source.host_organization_lineage | https://openalex.org/P4310320990 |
| locations[5].source.host_organization_lineage_names | Elsevier BV |
| locations[5].license | |
| locations[5].pdf_url | |
| locations[5].version | submittedVersion |
| locations[5].raw_type | Text |
| locations[5].license_id | |
| locations[5].is_accepted | False |
| locations[5].is_published | False |
| locations[5].raw_source_name | Human Genetics and Genomics Advances |
| locations[5].landing_page_url | https://www.cell.com/hgg-advances/fulltext/S2666-2477(24)00012-5?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS2666247724000125%3Fshowall%3Dtrue |
| locations[6].id | pmh:oai:scholarworks.indianapolis.iu.edu:1805/41518 |
| locations[6].is_oa | False |
| locations[6].source.id | https://openalex.org/S4306522653 |
| locations[6].source.issn | |
| locations[6].source.type | journal |
| locations[6].source.is_oa | False |
| locations[6].source.issn_l | |
| locations[6].source.is_core | True |
| locations[6].source.is_in_doaj | False |
| locations[6].source.display_name | PMC |
| locations[6].source.host_organization | |
| locations[6].source.host_organization_name | |
| locations[6].license | |
| locations[6].pdf_url | |
| locations[6].version | submittedVersion |
| locations[6].raw_type | Article |
| locations[6].license_id | |
| locations[6].is_accepted | False |
| locations[6].is_published | False |
| locations[6].raw_source_name | PMC |
| locations[6].landing_page_url | https://hdl.handle.net/1805/41518 |
| indexed_in | crossref, doaj, pubmed |
| authorships[0].author.id | https://openalex.org/A5043400362 |
| authorships[0].author.orcid | https://orcid.org/0000-0002-8905-5379 |
| authorships[0].author.display_name | Morad Ansari |
| authorships[0].countries | GB |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I4210158898, https://openalex.org/I98677209 |
| authorships[0].affiliations[0].raw_affiliation_string | MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, |
| authorships[0].affiliations[1].institution_ids | https://openalex.org/I2800150677 |
| authorships[0].affiliations[1].raw_affiliation_string | South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK, |
| authorships[0].institutions[0].id | https://openalex.org/I4210158898 |
| authorships[0].institutions[0].ror | https://ror.org/05hygey35 |
| authorships[0].institutions[0].type | facility |
| authorships[0].institutions[0].lineage | https://openalex.org/I4210087105, https://openalex.org/I4210158898, https://openalex.org/I90344618, https://openalex.org/I98677209 |
| authorships[0].institutions[0].country_code | GB |
| authorships[0].institutions[0].display_name | Institute of Genetics and Cancer |
| authorships[0].institutions[1].id | https://openalex.org/I98677209 |
| authorships[0].institutions[1].ror | https://ror.org/01nrxwf90 |
| authorships[0].institutions[1].type | education |
| authorships[0].institutions[1].lineage | https://openalex.org/I98677209 |
| authorships[0].institutions[1].country_code | GB |
| authorships[0].institutions[1].display_name | University of Edinburgh |
| authorships[0].institutions[2].id | https://openalex.org/I2800150677 |
| authorships[0].institutions[2].ror | https://ror.org/009kr6r15 |
| authorships[0].institutions[2].type | healthcare |
| authorships[0].institutions[2].lineage | https://openalex.org/I1324252669, https://openalex.org/I2800150677 |
| authorships[0].institutions[2].country_code | GB |
| authorships[0].institutions[2].display_name | Western General Hospital |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Morad Ansari |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK,, South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK, |
| authorships[1].author.id | https://openalex.org/A5092450612 |
| authorships[1].author.orcid | |
| authorships[1].author.display_name | Kamli N. W. Faour |
| authorships[1].countries | US |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I1288882113 |
| authorships[1].affiliations[0].raw_affiliation_string | Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US, |
| authorships[1].affiliations[1].institution_ids | https://openalex.org/I1288882113 |
| authorships[1].affiliations[1].raw_affiliation_string | Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US, |
| authorships[1].institutions[0].id | https://openalex.org/I1288882113 |
| authorships[1].institutions[0].ror | https://ror.org/00dvg7y05 |
| authorships[1].institutions[0].type | healthcare |
| authorships[1].institutions[0].lineage | https://openalex.org/I1288882113 |
| authorships[1].institutions[0].country_code | US |
| authorships[1].institutions[0].display_name | Boston Children's Hospital |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Kamli N.W. Faour |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US,, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US, |
| authorships[2].author.id | https://openalex.org/A5045753320 |
| authorships[2].author.orcid | https://orcid.org/0000-0002-4683-9958 |
| authorships[2].author.display_name | Akiko Shimamura |
| authorships[2].countries | US |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I1288882113 |
| authorships[2].affiliations[0].raw_affiliation_string | Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, US, |
| authorships[2].institutions[0].id | https://openalex.org/I1288882113 |
| authorships[2].institutions[0].ror | https://ror.org/00dvg7y05 |
| authorships[2].institutions[0].type | healthcare |
| authorships[2].institutions[0].lineage | https://openalex.org/I1288882113 |
| authorships[2].institutions[0].country_code | US |
| authorships[2].institutions[0].display_name | Boston Children's Hospital |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Akiko Shimamura |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, US, |
| authorships[3].author.id | https://openalex.org/A5037856626 |
| authorships[3].author.orcid | https://orcid.org/0000-0002-3106-5996 |
| authorships[3].author.display_name | Graeme R. Grimes |
| authorships[3].countries | GB |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I4210158898, https://openalex.org/I98677209 |
| authorships[3].affiliations[0].raw_affiliation_string | MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, |
| authorships[3].institutions[0].id | https://openalex.org/I4210158898 |
| authorships[3].institutions[0].ror | https://ror.org/05hygey35 |
| authorships[3].institutions[0].type | facility |
| authorships[3].institutions[0].lineage | https://openalex.org/I4210087105, https://openalex.org/I4210158898, https://openalex.org/I90344618, https://openalex.org/I98677209 |
| authorships[3].institutions[0].country_code | GB |
| authorships[3].institutions[0].display_name | Institute of Genetics and Cancer |
| authorships[3].institutions[1].id | https://openalex.org/I98677209 |
| authorships[3].institutions[1].ror | https://ror.org/01nrxwf90 |
| authorships[3].institutions[1].type | education |
| authorships[3].institutions[1].lineage | https://openalex.org/I98677209 |
| authorships[3].institutions[1].country_code | GB |
| authorships[3].institutions[1].display_name | University of Edinburgh |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Graeme Grimes |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, |
| authorships[4].author.id | https://openalex.org/A5092958839 |
| authorships[4].author.orcid | |
| authorships[4].author.display_name | Emeline M. Kao |
| authorships[4].countries | US |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I1288882113 |
| authorships[4].affiliations[0].raw_affiliation_string | Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US, |
| authorships[4].institutions[0].id | https://openalex.org/I1288882113 |
| authorships[4].institutions[0].ror | https://ror.org/00dvg7y05 |
| authorships[4].institutions[0].type | healthcare |
| authorships[4].institutions[0].lineage | https://openalex.org/I1288882113 |
| authorships[4].institutions[0].country_code | US |
| authorships[4].institutions[0].display_name | Boston Children's Hospital |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Emeline M. Kao |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US, |
| authorships[5].author.id | https://openalex.org/A5036501940 |
| authorships[5].author.orcid | https://orcid.org/0000-0001-9056-1271 |
| authorships[5].author.display_name | Erica R. Denhoff |
| authorships[5].countries | US |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I1288882113 |
| authorships[5].affiliations[0].raw_affiliation_string | Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US, |
| authorships[5].institutions[0].id | https://openalex.org/I1288882113 |
| authorships[5].institutions[0].ror | https://ror.org/00dvg7y05 |
| authorships[5].institutions[0].type | healthcare |
| authorships[5].institutions[0].lineage | https://openalex.org/I1288882113 |
| authorships[5].institutions[0].country_code | US |
| authorships[5].institutions[0].display_name | Boston Children's Hospital |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Erica R. Denhoff |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US, |
| authorships[6].author.id | https://openalex.org/A5009007904 |
| authorships[6].author.orcid | https://orcid.org/0000-0001-8657-9380 |
| authorships[6].author.display_name | Ana Blatnik |
| authorships[6].countries | GB, SI, US |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I4210158898, https://openalex.org/I98677209 |
| authorships[6].affiliations[0].raw_affiliation_string | MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, |
| authorships[6].affiliations[1].institution_ids | https://openalex.org/I3019592416, https://openalex.org/I4210145812 |
| authorships[6].affiliations[1].raw_affiliation_string | Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, SI, |
| authorships[6].institutions[0].id | https://openalex.org/I4210158898 |
| authorships[6].institutions[0].ror | https://ror.org/05hygey35 |
| authorships[6].institutions[0].type | facility |
| authorships[6].institutions[0].lineage | https://openalex.org/I4210087105, https://openalex.org/I4210158898, https://openalex.org/I90344618, https://openalex.org/I98677209 |
| authorships[6].institutions[0].country_code | GB |
| authorships[6].institutions[0].display_name | Institute of Genetics and Cancer |
| authorships[6].institutions[1].id | https://openalex.org/I98677209 |
| authorships[6].institutions[1].ror | https://ror.org/01nrxwf90 |
| authorships[6].institutions[1].type | education |
| authorships[6].institutions[1].lineage | https://openalex.org/I98677209 |
| authorships[6].institutions[1].country_code | GB |
| authorships[6].institutions[1].display_name | University of Edinburgh |
| authorships[6].institutions[2].id | https://openalex.org/I3019592416 |
| authorships[6].institutions[2].ror | https://ror.org/00y5zsg21 |
| authorships[6].institutions[2].type | facility |
| authorships[6].institutions[2].lineage | https://openalex.org/I3019592416 |
| authorships[6].institutions[2].country_code | SI |
| authorships[6].institutions[2].display_name | Institute of Oncology Ljubljana |
| authorships[6].institutions[3].id | https://openalex.org/I4210145812 |
| authorships[6].institutions[3].ror | https://ror.org/05feyya22 |
| authorships[6].institutions[3].type | company |
| authorships[6].institutions[3].lineage | https://openalex.org/I4210145812 |
| authorships[6].institutions[3].country_code | US |
| authorships[6].institutions[3].display_name | Cancer Genetics (United States) |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Ana Blatnik |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, SI,, MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK, |
| authorships[7].author.id | https://openalex.org/A5036429660 |
| authorships[7].author.orcid | https://orcid.org/0000-0002-1596-983X |
| authorships[7].author.display_name | Daniel Ben-Isvy |
| authorships[7].countries | US |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I4210087915 |
| authorships[7].affiliations[0].raw_affiliation_string | Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US, |
| authorships[7].affiliations[1].institution_ids | https://openalex.org/I136199984 |
| authorships[7].affiliations[1].raw_affiliation_string | Division of Medical Sciences, Harvard Medical School, Boston, MA, US, |
| authorships[7].affiliations[2].institution_ids | https://openalex.org/I107606265 |
| authorships[7].affiliations[2].raw_affiliation_string | Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US, |
| authorships[7].institutions[0].id | https://openalex.org/I107606265 |
| authorships[7].institutions[0].ror | https://ror.org/05a0ya142 |
| authorships[7].institutions[0].type | nonprofit |
| authorships[7].institutions[0].lineage | https://openalex.org/I107606265 |
| authorships[7].institutions[0].country_code | US |
| authorships[7].institutions[0].display_name | Broad Institute |
| authorships[7].institutions[1].id | https://openalex.org/I136199984 |
| authorships[7].institutions[1].ror | https://ror.org/03vek6s52 |
| authorships[7].institutions[1].type | education |
| authorships[7].institutions[1].lineage | https://openalex.org/I136199984 |
| authorships[7].institutions[1].country_code | US |
| authorships[7].institutions[1].display_name | Harvard University |
| authorships[7].institutions[2].id | https://openalex.org/I4210087915 |
| authorships[7].institutions[2].ror | https://ror.org/002pd6e78 |
| authorships[7].institutions[2].type | healthcare |
| authorships[7].institutions[2].lineage | https://openalex.org/I4210087915, https://openalex.org/I48633490 |
| authorships[7].institutions[2].country_code | US |
| authorships[7].institutions[2].display_name | Massachusetts General Hospital |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Daniel Ben-Isvy |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US,, Division of Medical Sciences, Harvard Medical School, Boston, MA, US,, Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US, |
| authorships[8].author.id | https://openalex.org/A5101537858 |
| authorships[8].author.orcid | https://orcid.org/0000-0002-6630-8767 |
| authorships[8].author.display_name | Lily Wang |
| authorships[8].countries | US |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I4210087915 |
| authorships[8].affiliations[0].raw_affiliation_string | Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US, |
| authorships[8].affiliations[1].institution_ids | https://openalex.org/I107606265 |
| authorships[8].affiliations[1].raw_affiliation_string | Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US, |
| authorships[8].affiliations[2].institution_ids | https://openalex.org/I136199984 |
| authorships[8].affiliations[2].raw_affiliation_string | Division of Medical Sciences, Harvard Medical School, Boston, MA, US, |
| authorships[8].institutions[0].id | https://openalex.org/I107606265 |
| authorships[8].institutions[0].ror | https://ror.org/05a0ya142 |
| authorships[8].institutions[0].type | nonprofit |
| authorships[8].institutions[0].lineage | https://openalex.org/I107606265 |
| authorships[8].institutions[0].country_code | US |
| authorships[8].institutions[0].display_name | Broad Institute |
| authorships[8].institutions[1].id | https://openalex.org/I136199984 |
| authorships[8].institutions[1].ror | https://ror.org/03vek6s52 |
| authorships[8].institutions[1].type | education |
| authorships[8].institutions[1].lineage | https://openalex.org/I136199984 |
| authorships[8].institutions[1].country_code | US |
| authorships[8].institutions[1].display_name | Harvard University |
| authorships[8].institutions[2].id | https://openalex.org/I4210087915 |
| authorships[8].institutions[2].ror | https://ror.org/002pd6e78 |
| authorships[8].institutions[2].type | healthcare |
| authorships[8].institutions[2].lineage | https://openalex.org/I4210087915, https://openalex.org/I48633490 |
| authorships[8].institutions[2].country_code | US |
| authorships[8].institutions[2].display_name | Massachusetts General Hospital |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Lily Wang |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US,, Division of Medical Sciences, Harvard Medical School, Boston, MA, US,, Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US, |
| authorships[9].author.id | https://openalex.org/A5106725879 |
| authorships[9].author.orcid | |
| authorships[9].author.display_name | Benjamin M. Helm |
| authorships[9].countries | US |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I4394709130, https://openalex.org/I55769427 |
| authorships[9].affiliations[0].raw_affiliation_string | Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US, |
| authorships[9].institutions[0].id | https://openalex.org/I4394709130 |
| authorships[9].institutions[0].ror | https://ror.org/02ets8c94 |
| authorships[9].institutions[0].type | education |
| authorships[9].institutions[0].lineage | https://openalex.org/I4394709130, https://openalex.org/I592451 |
| authorships[9].institutions[0].country_code | |
| authorships[9].institutions[0].display_name | Indiana University School of Medicine |
| authorships[9].institutions[1].id | https://openalex.org/I55769427 |
| authorships[9].institutions[1].ror | https://ror.org/05gxnyn08 |
| authorships[9].institutions[1].type | education |
| authorships[9].institutions[1].lineage | https://openalex.org/I55769427, https://openalex.org/I592451 |
| authorships[9].institutions[1].country_code | US |
| authorships[9].institutions[1].display_name | Indiana University – Purdue University Indianapolis |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Benjamin M. Helm |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US, |
| authorships[10].author.id | https://openalex.org/A5049698135 |
| authorships[10].author.orcid | https://orcid.org/0000-0002-6410-0882 |
| authorships[10].author.display_name | Helen V. Firth |
| authorships[10].countries | GB |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I241749, https://openalex.org/I4210156194 |
| authorships[10].affiliations[0].raw_affiliation_string | Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK, |
| authorships[10].institutions[0].id | https://openalex.org/I4210156194 |
| authorships[10].institutions[0].ror | https://ror.org/055vbxf86 |
| authorships[10].institutions[0].type | healthcare |
| authorships[10].institutions[0].lineage | https://openalex.org/I2802466933, https://openalex.org/I4210156194 |
| authorships[10].institutions[0].country_code | GB |
| authorships[10].institutions[0].display_name | Addenbrooke's Hospital |
| authorships[10].institutions[1].id | https://openalex.org/I241749 |
| authorships[10].institutions[1].ror | https://ror.org/013meh722 |
| authorships[10].institutions[1].type | education |
| authorships[10].institutions[1].lineage | https://openalex.org/I241749 |
| authorships[10].institutions[1].country_code | GB |
| authorships[10].institutions[1].display_name | University of Cambridge |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Helen Firth |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK, |
| authorships[11].author.id | https://openalex.org/A5015070707 |
| authorships[11].author.orcid | https://orcid.org/0000-0003-0299-0100 |
| authorships[11].author.display_name | Amy M. Breman |
| authorships[11].countries | US |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I4394709130, https://openalex.org/I55769427 |
| authorships[11].affiliations[0].raw_affiliation_string | Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US, |
| authorships[11].institutions[0].id | https://openalex.org/I4394709130 |
| authorships[11].institutions[0].ror | https://ror.org/02ets8c94 |
| authorships[11].institutions[0].type | education |
| authorships[11].institutions[0].lineage | https://openalex.org/I4394709130, https://openalex.org/I592451 |
| authorships[11].institutions[0].country_code | |
| authorships[11].institutions[0].display_name | Indiana University School of Medicine |
| authorships[11].institutions[1].id | https://openalex.org/I55769427 |
| authorships[11].institutions[1].ror | https://ror.org/05gxnyn08 |
| authorships[11].institutions[1].type | education |
| authorships[11].institutions[1].lineage | https://openalex.org/I55769427, https://openalex.org/I592451 |
| authorships[11].institutions[1].country_code | US |
| authorships[11].institutions[1].display_name | Indiana University – Purdue University Indianapolis |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Amy M. Breman |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US, |
| authorships[12].author.id | https://openalex.org/A5104729368 |
| authorships[12].author.orcid | |
| authorships[12].author.display_name | Emilia K. Bijlsma |
| authorships[12].countries | NL |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I121797337 |
| authorships[12].affiliations[0].raw_affiliation_string | Department of Clinical Genetics, Leiden University Medical Centre, Leiden, NL, |
| authorships[12].institutions[0].id | https://openalex.org/I121797337 |
| authorships[12].institutions[0].ror | https://ror.org/027bh9e22 |
| authorships[12].institutions[0].type | education |
| authorships[12].institutions[0].lineage | https://openalex.org/I121797337 |
| authorships[12].institutions[0].country_code | NL |
| authorships[12].institutions[0].display_name | Leiden University |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | Emilia K. Bijlsma |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | Department of Clinical Genetics, Leiden University Medical Centre, Leiden, NL, |
| authorships[13].author.id | https://openalex.org/A5037553234 |
| authorships[13].author.orcid | https://orcid.org/0000-0001-9378-3961 |
| authorships[13].author.display_name | Aiko Iwata‐Otsubo |
| authorships[13].countries | US |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I4394709130, https://openalex.org/I55769427 |
| authorships[13].affiliations[0].raw_affiliation_string | Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US, |
| authorships[13].institutions[0].id | https://openalex.org/I4394709130 |
| authorships[13].institutions[0].ror | https://ror.org/02ets8c94 |
| authorships[13].institutions[0].type | education |
| authorships[13].institutions[0].lineage | https://openalex.org/I4394709130, https://openalex.org/I592451 |
| authorships[13].institutions[0].country_code | |
| authorships[13].institutions[0].display_name | Indiana University School of Medicine |
| authorships[13].institutions[1].id | https://openalex.org/I55769427 |
| authorships[13].institutions[1].ror | https://ror.org/05gxnyn08 |
| authorships[13].institutions[1].type | education |
| authorships[13].institutions[1].lineage | https://openalex.org/I55769427, https://openalex.org/I592451 |
| authorships[13].institutions[1].country_code | US |
| authorships[13].institutions[1].display_name | Indiana University – Purdue University Indianapolis |
| authorships[13].author_position | middle |
| authorships[13].raw_author_name | Aiko Iwata-Otsubo |
| authorships[13].is_corresponding | False |
| authorships[13].raw_affiliation_strings | Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US, |
| authorships[14].author.id | https://openalex.org/A5060361931 |
| authorships[14].author.orcid | https://orcid.org/0000-0002-3361-3781 |
| authorships[14].author.display_name | Thomy de Ravel |
| authorships[14].countries | BE, IN |
| authorships[14].affiliations[0].institution_ids | https://openalex.org/I2800231306, https://openalex.org/I4210098597 |
| authorships[14].affiliations[0].raw_affiliation_string | Centre for Human Genetics, UZ Leuven/ Leuven University Hospitals, Leuven, BE, |
| authorships[14].institutions[0].id | https://openalex.org/I2800231306 |
| authorships[14].institutions[0].ror | https://ror.org/0424bsv16 |
| authorships[14].institutions[0].type | healthcare |
| authorships[14].institutions[0].lineage | https://openalex.org/I2800231306 |
| authorships[14].institutions[0].country_code | BE |
| authorships[14].institutions[0].display_name | Universitair Ziekenhuis Leuven |
| authorships[14].institutions[1].id | https://openalex.org/I4210098597 |
| authorships[14].institutions[1].ror | https://ror.org/00tw8zf26 |
| authorships[14].institutions[1].type | other |
| authorships[14].institutions[1].lineage | https://openalex.org/I4210098597 |
| authorships[14].institutions[1].country_code | IN |
| authorships[14].institutions[1].display_name | Centre For Human Genetics |
| authorships[14].author_position | middle |
| authorships[14].raw_author_name | Thomy J.L. de Ravel |
| authorships[14].is_corresponding | False |
| authorships[14].raw_affiliation_strings | Centre for Human Genetics, UZ Leuven/ Leuven University Hospitals, Leuven, BE, |
| authorships[15].author.id | https://openalex.org/A5102891374 |
| authorships[15].author.orcid | https://orcid.org/0000-0002-0538-1047 |
| authorships[15].author.display_name | Vincent A. Fusaro |
| authorships[15].countries | US |
| authorships[15].affiliations[0].institution_ids | https://openalex.org/I4210160571 |
| authorships[15].affiliations[0].raw_affiliation_string | Invitae, San Francisco, CA, US, |
| authorships[15].institutions[0].id | https://openalex.org/I4210160571 |
| authorships[15].institutions[0].ror | https://ror.org/05mt7ye26 |
| authorships[15].institutions[0].type | company |
| authorships[15].institutions[0].lineage | https://openalex.org/I4210160571 |
| authorships[15].institutions[0].country_code | US |
| authorships[15].institutions[0].display_name | Invitae (United States) |
| authorships[15].author_position | middle |
| authorships[15].raw_author_name | Vincent Fusaro |
| authorships[15].is_corresponding | False |
| authorships[15].raw_affiliation_strings | Invitae, San Francisco, CA, US, |
| authorships[16].author.id | https://openalex.org/A5109149838 |
| authorships[16].author.orcid | |
| authorships[16].author.display_name | Alan Fryer |
| authorships[16].countries | GB |
| authorships[16].affiliations[0].institution_ids | https://openalex.org/I146655781, https://openalex.org/I4210157731 |
| authorships[16].affiliations[0].raw_affiliation_string | Department of Clinical Genetics, Alder Hey Children's Hospital Liverpool, Liverpool, UK, |
| authorships[16].institutions[0].id | https://openalex.org/I4210157731 |
| authorships[16].institutions[0].ror | https://ror.org/04z61sd03 |
| authorships[16].institutions[0].type | healthcare |
| authorships[16].institutions[0].lineage | https://openalex.org/I4210094656, https://openalex.org/I4210157731 |
| authorships[16].institutions[0].country_code | GB |
| authorships[16].institutions[0].display_name | Alder Hey Children's Hospital |
| authorships[16].institutions[1].id | https://openalex.org/I146655781 |
| authorships[16].institutions[1].ror | https://ror.org/04xs57h96 |
| authorships[16].institutions[1].type | education |
| authorships[16].institutions[1].lineage | https://openalex.org/I146655781 |
| authorships[16].institutions[1].country_code | GB |
| authorships[16].institutions[1].display_name | University of Liverpool |
| authorships[16].author_position | middle |
| authorships[16].raw_author_name | Alan Fryer |
| authorships[16].is_corresponding | False |
| authorships[16].raw_affiliation_strings | Department of Clinical Genetics, Alder Hey Children's Hospital Liverpool, Liverpool, UK, |
| authorships[17].author.id | https://openalex.org/A5064218126 |
| authorships[17].author.orcid | https://orcid.org/0000-0002-1389-5320 |
| authorships[17].author.display_name | Keith Nykamp |
| authorships[17].countries | US |
| authorships[17].affiliations[0].institution_ids | https://openalex.org/I4210160571 |
| authorships[17].affiliations[0].raw_affiliation_string | Invitae, San Francisco, CA, US, |
| authorships[17].institutions[0].id | https://openalex.org/I4210160571 |
| authorships[17].institutions[0].ror | https://ror.org/05mt7ye26 |
| authorships[17].institutions[0].type | company |
| authorships[17].institutions[0].lineage | https://openalex.org/I4210160571 |
| authorships[17].institutions[0].country_code | US |
| authorships[17].institutions[0].display_name | Invitae (United States) |
| authorships[17].author_position | middle |
| authorships[17].raw_author_name | Keith Nykamp |
| authorships[17].is_corresponding | False |
| authorships[17].raw_affiliation_strings | Invitae, San Francisco, CA, US, |
| authorships[18].author.id | https://openalex.org/A5088665098 |
| authorships[18].author.orcid | https://orcid.org/0009-0009-0399-7217 |
| authorships[18].author.display_name | Lara G. Stühn |
| authorships[18].countries | US |
| authorships[18].affiliations[0].institution_ids | https://openalex.org/I4210118837 |
| authorships[18].affiliations[0].raw_affiliation_string | Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE, |
| authorships[18].institutions[0].id | https://openalex.org/I4210118837 |
| authorships[18].institutions[0].ror | https://ror.org/02d77hg59 |
| authorships[18].institutions[0].type | company |
| authorships[18].institutions[0].lineage | https://openalex.org/I4210118837 |
| authorships[18].institutions[0].country_code | US |
| authorships[18].institutions[0].display_name | ID Genomics (United States) |
| authorships[18].author_position | middle |
| authorships[18].raw_author_name | Lara G. Stühn |
| authorships[18].is_corresponding | False |
| authorships[18].raw_affiliation_strings | Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE, |
| authorships[19].author.id | https://openalex.org/A5011228927 |
| authorships[19].author.orcid | https://orcid.org/0000-0001-6033-4836 |
| authorships[19].author.display_name | Tobias B. Haack |
| authorships[19].countries | US |
| authorships[19].affiliations[0].institution_ids | https://openalex.org/I4210118837 |
| authorships[19].affiliations[0].raw_affiliation_string | Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE, |
| authorships[19].institutions[0].id | https://openalex.org/I4210118837 |
| authorships[19].institutions[0].ror | https://ror.org/02d77hg59 |
| authorships[19].institutions[0].type | company |
| authorships[19].institutions[0].lineage | https://openalex.org/I4210118837 |
| authorships[19].institutions[0].country_code | US |
| authorships[19].institutions[0].display_name | ID Genomics (United States) |
| authorships[19].author_position | middle |
| authorships[19].raw_author_name | Tobias B. Haack |
| authorships[19].is_corresponding | False |
| authorships[19].raw_affiliation_strings | Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE, |
| authorships[20].author.id | https://openalex.org/A5108110552 |
| authorships[20].author.orcid | |
| authorships[20].author.display_name | G. Christoph Korenke |
| authorships[20].author_position | middle |
| authorships[20].raw_author_name | G. Christoph Korenke |
| authorships[20].is_corresponding | False |
| authorships[21].author.id | https://openalex.org/A5027765692 |
| authorships[21].author.orcid | https://orcid.org/0000-0002-0571-1616 |
| authorships[21].author.display_name | Panayiotis Constantinou |
| authorships[21].author_position | middle |
| authorships[21].raw_author_name | Panayiotis Constantinou |
| authorships[21].is_corresponding | False |
| authorships[22].author.id | https://openalex.org/A5001987528 |
| authorships[22].author.orcid | https://orcid.org/0000-0001-6809-9818 |
| authorships[22].author.display_name | Kinga M. Bujakowska |
| authorships[22].author_position | middle |
| authorships[22].raw_author_name | Kinga M. Bujakowska |
| authorships[22].is_corresponding | False |
| authorships[23].author.id | https://openalex.org/A5063459580 |
| authorships[23].author.orcid | https://orcid.org/0000-0002-4975-9363 |
| authorships[23].author.display_name | Karen Low |
| authorships[23].author_position | middle |
| authorships[23].raw_author_name | Karen J. Low |
| authorships[23].is_corresponding | False |
| authorships[24].author.id | https://openalex.org/A5078827809 |
| authorships[24].author.orcid | https://orcid.org/0000-0002-1748-5644 |
| authorships[24].author.display_name | Emily Place |
| authorships[24].author_position | middle |
| authorships[24].raw_author_name | Emily Place |
| authorships[24].is_corresponding | False |
| authorships[25].author.id | https://openalex.org/A5060851210 |
| authorships[25].author.orcid | |
| authorships[25].author.display_name | Jennifer B. Humberson |
| authorships[25].author_position | middle |
| authorships[25].raw_author_name | Jennifer Humberson |
| authorships[25].is_corresponding | False |
| authorships[26].author.id | https://openalex.org/A5104236393 |
| authorships[26].author.orcid | |
| authorships[26].author.display_name | Melanie P. Napier |
| authorships[26].author_position | middle |
| authorships[26].raw_author_name | Melanie P. Napier |
| authorships[26].is_corresponding | False |
| authorships[27].author.id | https://openalex.org/A5003066332 |
| authorships[27].author.orcid | https://orcid.org/0000-0003-1858-8394 |
| authorships[27].author.display_name | Jessica F. Hoffman |
| authorships[27].author_position | middle |
| authorships[27].raw_author_name | Jessica Hoffman |
| authorships[27].is_corresponding | False |
| authorships[28].author.id | https://openalex.org/A5073793179 |
| authorships[28].author.orcid | https://orcid.org/0000-0002-4476-1309 |
| authorships[28].author.display_name | Jane Juusola |
| authorships[28].author_position | middle |
| authorships[28].raw_author_name | Jane Juusola |
| authorships[28].is_corresponding | False |
| authorships[29].author.id | https://openalex.org/A5046025488 |
| authorships[29].author.orcid | https://orcid.org/0000-0002-1542-1305 |
| authorships[29].author.display_name | Matthew A. Deardorff |
| authorships[29].author_position | middle |
| authorships[29].raw_author_name | Matthew A. Deardorff |
| authorships[29].is_corresponding | False |
| authorships[30].author.id | https://openalex.org/A5025601019 |
| authorships[30].author.orcid | https://orcid.org/0000-0003-4234-2095 |
| authorships[30].author.display_name | Wanqing Shao |
| authorships[30].author_position | middle |
| authorships[30].raw_author_name | Wanqing Shao |
| authorships[30].is_corresponding | False |
| authorships[31].author.id | https://openalex.org/A5059671962 |
| authorships[31].author.orcid | https://orcid.org/0000-0003-1490-592X |
| authorships[31].author.display_name | Shira Rockowitz |
| authorships[31].author_position | middle |
| authorships[31].raw_author_name | Shira Rockowitz |
| authorships[31].is_corresponding | False |
| authorships[32].author.id | https://openalex.org/A5010801552 |
| authorships[32].author.orcid | https://orcid.org/0000-0003-2442-1128 |
| authorships[32].author.display_name | Ian D. Krantz |
| authorships[32].author_position | middle |
| authorships[32].raw_author_name | Ian Krantz |
| authorships[32].is_corresponding | False |
| authorships[33].author.id | https://openalex.org/A5015012266 |
| authorships[33].author.orcid | https://orcid.org/0000-0002-1225-7837 |
| authorships[33].author.display_name | Maninder Kaur |
| authorships[33].author_position | middle |
| authorships[33].raw_author_name | Maninder Kaur |
| authorships[33].is_corresponding | False |
| authorships[34].author.id | https://openalex.org/A5020789959 |
| authorships[34].author.orcid | |
| authorships[34].author.display_name | Sarah E. Raible |
| authorships[34].author_position | middle |
| authorships[34].raw_author_name | Sarah Raible |
| authorships[34].is_corresponding | False |
| authorships[35].author.id | https://openalex.org/A5093820195 |
| authorships[35].author.orcid | |
| authorships[35].author.display_name | Victoria Dortenzio |
| authorships[35].author_position | middle |
| authorships[35].raw_author_name | Victoria Dortenzio |
| authorships[35].is_corresponding | False |
| authorships[36].author.id | https://openalex.org/A5055275116 |
| authorships[36].author.orcid | https://orcid.org/0000-0002-7561-4870 |
| authorships[36].author.display_name | Sabine Kliesch |
| authorships[36].author_position | middle |
| authorships[36].raw_author_name | Sabine Kliesch |
| authorships[36].is_corresponding | False |
| authorships[37].author.id | https://openalex.org/A5054232066 |
| authorships[37].author.orcid | https://orcid.org/0000-0001-8148-0648 |
| authorships[37].author.display_name | Moriel Singer‐Berk |
| authorships[37].author_position | middle |
| authorships[37].raw_author_name | Moriel Singer-Berk |
| authorships[37].is_corresponding | False |
| authorships[38].author.id | https://openalex.org/A5013605681 |
| authorships[38].author.orcid | https://orcid.org/0000-0001-8688-7551 |
| authorships[38].author.display_name | Emily Groopman |
| authorships[38].author_position | middle |
| authorships[38].raw_author_name | Emily Groopman |
| authorships[38].is_corresponding | False |
| authorships[39].author.id | https://openalex.org/A5011156751 |
| authorships[39].author.orcid | https://orcid.org/0000-0002-6847-6780 |
| authorships[39].author.display_name | Stephanie DiTroia |
| authorships[39].author_position | middle |
| authorships[39].raw_author_name | Stephanie DiTroia |
| authorships[39].is_corresponding | False |
| authorships[40].author.id | https://openalex.org/A5108459220 |
| authorships[40].author.orcid | |
| authorships[40].author.display_name | Sonia Ballal |
| authorships[40].author_position | middle |
| authorships[40].raw_author_name | Sonia Ballal |
| authorships[40].is_corresponding | False |
| authorships[41].author.id | https://openalex.org/A5002114949 |
| authorships[41].author.orcid | https://orcid.org/0000-0001-7008-1879 |
| authorships[41].author.display_name | Siddharth Srivastava |
| authorships[41].author_position | middle |
| authorships[41].raw_author_name | Siddharth Srivastava |
| authorships[41].is_corresponding | False |
| authorships[42].author.id | https://openalex.org/A5052746435 |
| authorships[42].author.orcid | |
| authorships[42].author.display_name | Kathrin Rothfelder |
| authorships[42].author_position | middle |
| authorships[42].raw_author_name | Kathrin Rothfelder |
| authorships[42].is_corresponding | False |
| authorships[43].author.id | https://openalex.org/A5108079933 |
| authorships[43].author.orcid | |
| authorships[43].author.display_name | Saskia Biskup |
| authorships[43].author_position | middle |
| authorships[43].raw_author_name | Saskia Biskup |
| authorships[43].is_corresponding | False |
| authorships[44].author.id | https://openalex.org/A5092958838 |
| authorships[44].author.orcid | |
| authorships[44].author.display_name | Jessica Rzasa |
| authorships[44].author_position | middle |
| authorships[44].raw_author_name | Jessica Rzasa |
| authorships[44].is_corresponding | False |
| authorships[45].author.id | https://openalex.org/A5047369065 |
| authorships[45].author.orcid | https://orcid.org/0000-0003-1245-6606 |
| authorships[45].author.display_name | Jennifer Kerkhof |
| authorships[45].author_position | middle |
| authorships[45].raw_author_name | Jennifer Kerkhof |
| authorships[45].is_corresponding | False |
| authorships[46].author.id | https://openalex.org/A5104172329 |
| authorships[46].author.orcid | |
| authorships[46].author.display_name | Haley McConkey |
| authorships[46].author_position | middle |
| authorships[46].raw_author_name | Haley McConkey |
| authorships[46].is_corresponding | False |
| authorships[47].author.id | https://openalex.org/A5074581885 |
| authorships[47].author.orcid | https://orcid.org/0000-0001-6363-0016 |
| authorships[47].author.display_name | Bekim Sadiković |
| authorships[47].author_position | middle |
| authorships[47].raw_author_name | Bekim Sadikovic |
| authorships[47].is_corresponding | False |
| authorships[48].author.id | https://openalex.org/A5075388482 |
| authorships[48].author.orcid | https://orcid.org/0000-0001-9278-3644 |
| authorships[48].author.display_name | Sarah K. Hilton |
| authorships[48].author_position | middle |
| authorships[48].raw_author_name | Sarah Hilton |
| authorships[48].is_corresponding | False |
| authorships[49].author.id | https://openalex.org/A5058411501 |
| authorships[49].author.orcid | https://orcid.org/0000-0002-8527-2210 |
| authorships[49].author.display_name | Siddharth Banka |
| authorships[49].author_position | middle |
| authorships[49].raw_author_name | Siddharth Banka |
| authorships[49].is_corresponding | False |
| has_content.pdf | False |
| has_content.grobid_xml | False |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://doi.org/10.1016/j.xhgg.2024.100273 |
| open_access.oa_status | gold |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features |
| has_fulltext | False |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T10222 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9997000098228455 |
| primary_topic.domain.id | https://openalex.org/domains/1 |
| primary_topic.domain.display_name | Life Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/1312 |
| primary_topic.subfield.display_name | Molecular Biology |
| primary_topic.display_name | Genomics and Chromatin Dynamics |
| related_works | https://openalex.org/W3111855133, https://openalex.org/W4390696111, https://openalex.org/W2061119530, https://openalex.org/W2461301799, https://openalex.org/W2619882435, https://openalex.org/W2951072646, https://openalex.org/W4221109467, https://openalex.org/W2163721943, https://openalex.org/W3010942545, https://openalex.org/W3023275109 |
| cited_by_count | 2 |
| counts_by_year[0].year | 2025 |
| counts_by_year[0].cited_by_count | 1 |
| counts_by_year[1].year | 2024 |
| counts_by_year[1].cited_by_count | 1 |
| locations_count | 7 |
| best_oa_location.id | doi:10.1016/j.xhgg.2024.100273 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S4210200806 |
| best_oa_location.source.issn | 2666-2477 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | True |
| best_oa_location.source.issn_l | 2666-2477 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | True |
| best_oa_location.source.display_name | Human Genetics and Genomics Advances |
| best_oa_location.source.host_organization | https://openalex.org/P4310320990 |
| best_oa_location.source.host_organization_name | Elsevier BV |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310320990 |
| best_oa_location.source.host_organization_lineage_names | Elsevier BV |
| best_oa_location.license | 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 | Human Genetics and Genomics Advances |
| best_oa_location.landing_page_url | https://doi.org/10.1016/j.xhgg.2024.100273 |
| primary_location.id | doi:10.1016/j.xhgg.2024.100273 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S4210200806 |
| primary_location.source.issn | 2666-2477 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | True |
| primary_location.source.issn_l | 2666-2477 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | True |
| primary_location.source.display_name | Human Genetics and Genomics Advances |
| primary_location.source.host_organization | https://openalex.org/P4310320990 |
| primary_location.source.host_organization_name | Elsevier BV |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310320990 |
| primary_location.source.host_organization_lineage_names | Elsevier BV |
| primary_location.license | 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 | Human Genetics and Genomics Advances |
| primary_location.landing_page_url | https://doi.org/10.1016/j.xhgg.2024.100273 |
| publication_date | 2024-01-30 |
| publication_year | 2024 |
| referenced_works | https://openalex.org/W4378218090, https://openalex.org/W2120785595, https://openalex.org/W2110691960, https://openalex.org/W2064805607, https://openalex.org/W2761461280, https://openalex.org/W2047005748, https://openalex.org/W2028022357, https://openalex.org/W2606168351, https://openalex.org/W1966303573, https://openalex.org/W4226048574, https://openalex.org/W2180981534, https://openalex.org/W2904293039, https://openalex.org/W2030222772, https://openalex.org/W2168453865, https://openalex.org/W2114654904, https://openalex.org/W2068680020, https://openalex.org/W2119707965, https://openalex.org/W2090712075, https://openalex.org/W3008931239, https://openalex.org/W1980605852, https://openalex.org/W2130155683, https://openalex.org/W2058068539, https://openalex.org/W2949039910, https://openalex.org/W2073355932, https://openalex.org/W4220950885, https://openalex.org/W6793319612, https://openalex.org/W2960274205, https://openalex.org/W2056227778, https://openalex.org/W3175917124, https://openalex.org/W2895781865, https://openalex.org/W1808711893, https://openalex.org/W3040340647, https://openalex.org/W2036841261, https://openalex.org/W3106088748, https://openalex.org/W4281716291, https://openalex.org/W4310437437, https://openalex.org/W3112376646, https://openalex.org/W4386171078, https://openalex.org/W2951400890, https://openalex.org/W2015957073, https://openalex.org/W6745485746, https://openalex.org/W2139091482, https://openalex.org/W3029661147, https://openalex.org/W4289262011, https://openalex.org/W3031073114, https://openalex.org/W4318982686, https://openalex.org/W4312220023, https://openalex.org/W4281853087, https://openalex.org/W2001704867, https://openalex.org/W2058659169, https://openalex.org/W2032512893, https://openalex.org/W2055410535, https://openalex.org/W3049272392, https://openalex.org/W2953080562, https://openalex.org/W1839370049, https://openalex.org/W3084570386, https://openalex.org/W2950420193, https://openalex.org/W6849526140, https://openalex.org/W4307339705, https://openalex.org/W2910612883, https://openalex.org/W2944375168, https://openalex.org/W1964512314, https://openalex.org/W3093292403, https://openalex.org/W6797957488, https://openalex.org/W4293068820, https://openalex.org/W2205870734, https://openalex.org/W2095944862, https://openalex.org/W2008777213, https://openalex.org/W37036519, https://openalex.org/W2008897960, https://openalex.org/W2011479902, https://openalex.org/W2802615273, https://openalex.org/W2018380248, https://openalex.org/W2345624975, https://openalex.org/W4362585565, https://openalex.org/W2618031525, https://openalex.org/W2021333631, https://openalex.org/W3013207556, https://openalex.org/W2949672039, https://openalex.org/W4205170775, https://openalex.org/W4319170694, https://openalex.org/W4291582462, https://openalex.org/W2766071271, https://openalex.org/W3153476679 |
| referenced_works_count | 84 |
| abstract_inverted_index.a | 9, 114, 199 |
| abstract_inverted_index.14 | 120 |
| abstract_inverted_index.We | 54 |
| abstract_inverted_index.an | 26, 92, 153 |
| abstract_inverted_index.as | 91 |
| abstract_inverted_index.be | 268 |
| abstract_inverted_index.by | 18, 271 |
| abstract_inverted_index.de | 13 |
| abstract_inverted_index.do | 212 |
| abstract_inverted_index.in | 6, 72, 82, 157, 166, 198, 231, 239 |
| abstract_inverted_index.is | 97 |
| abstract_inverted_index.it | 96 |
| abstract_inverted_index.of | 11, 33, 47, 116, 141, 188, 201, 221, 226, 248, 259 |
| abstract_inverted_index.on | 131, 251 |
| abstract_inverted_index.or | 50 |
| abstract_inverted_index.to | 45, 63, 78, 145, 185 |
| abstract_inverted_index.we | 86 |
| abstract_inverted_index.LoF | 229 |
| abstract_inverted_index.Our | 224 |
| abstract_inverted_index.and | 3, 23, 60, 74, 108, 138, 176, 190, 195, 236, 255 |
| abstract_inverted_index.are | 8, 111 |
| abstract_inverted_index.but | 129, 211 |
| abstract_inverted_index.for | 105, 170 |
| abstract_inverted_index.had | 178 |
| abstract_inverted_index.has | 40 |
| abstract_inverted_index.low | 132 |
| abstract_inverted_index.not | 41, 213 |
| abstract_inverted_index.the | 31, 246, 257 |
| abstract_inverted_index.via | 25 |
| abstract_inverted_index.SMC3 | 7, 37, 89, 123, 148, 167, 205, 209, 242 |
| abstract_inverted_index.been | 42 |
| abstract_inverted_index.data | 194, 197, 274 |
| abstract_inverted_index.even | 51 |
| abstract_inverted_index.only | 270 |
| abstract_inverted_index.pLoF | 101, 109, 124, 158, 164, 206, 243 |
| abstract_inverted_index.show | 87 |
| abstract_inverted_index.some | 177 |
| abstract_inverted_index.that | 88, 204 |
| abstract_inverted_index.this | 83 |
| abstract_inverted_index.used | 55 |
| abstract_inverted_index.were | 127, 168 |
| abstract_inverted_index.will | 267 |
| abstract_inverted_index.with | 36, 66, 113, 122, 147, 181, 217, 233, 241, 276 |
| abstract_inverted_index.Among | 119 |
| abstract_inverted_index.CdLS. | 143, 223 |
| abstract_inverted_index.Here, | 85 |
| abstract_inverted_index.Lange | 14 |
| abstract_inverted_index.SMC3, | 73 |
| abstract_inverted_index.SMC3. | 186 |
| abstract_inverted_index.cases | 202 |
| abstract_inverted_index.cause | 10 |
| abstract_inverted_index.gene. | 84 |
| abstract_inverted_index.gene: | 95 |
| abstract_inverted_index.genes | 263 |
| abstract_inverted_index.indel | 150 |
| abstract_inverted_index.links | 184, 266 |
| abstract_inverted_index.model | 191 |
| abstract_inverted_index.other | 61 |
| abstract_inverted_index.range | 115 |
| abstract_inverted_index.scope | 247 |
| abstract_inverted_index.their | 252 |
| abstract_inverted_index.tumor | 189 |
| abstract_inverted_index.whose | 264 |
| abstract_inverted_index.(pLoF) | 70 |
| abstract_inverted_index.and/or | 173 |
| abstract_inverted_index.growth | 21, 133, 235 |
| abstract_inverted_index.highly | 98 |
| abstract_inverted_index.indels | 5 |
| abstract_inverted_index.marked | 17 |
| abstract_inverted_index.milder | 155 |
| abstract_inverted_index.paired | 275 |
| abstract_inverted_index.reduce | 208 |
| abstract_inverted_index.subset | 200 |
| abstract_inverted_index.system | 192 |
| abstract_inverted_index.(CdLS), | 16 |
| abstract_inverted_index.against | 100 |
| abstract_inverted_index.allelic | 253 |
| abstract_inverted_index.behaves | 90 |
| abstract_inverted_index.careful | 277 |
| abstract_inverted_index.clearly | 261 |
| abstract_inverted_index.concert | 232 |
| abstract_inverted_index.disease | 265 |
| abstract_inverted_index.expands | 245 |
| abstract_inverted_index.finding | 225 |
| abstract_inverted_index.genomic | 219, 273 |
| abstract_inverted_index.growth, | 171 |
| abstract_inverted_index.informs | 250 |
| abstract_inverted_index.leading | 44 |
| abstract_inverted_index.overall | 154 |
| abstract_inverted_index.patient | 58 |
| abstract_inverted_index.several | 161 |
| abstract_inverted_index.suggest | 203 |
| abstract_inverted_index.support | 215 |
| abstract_inverted_index.typical | 222 |
| abstract_inverted_index.Analyses | 187 |
| abstract_inverted_index.Cornelia | 12 |
| abstract_inverted_index.However, | 30 |
| abstract_inverted_index.analyzed | 75 |
| abstract_inverted_index.apparent | 27 |
| abstract_inverted_index.atypical | 142 |
| abstract_inverted_index.depleted | 104 |
| abstract_inverted_index.features | 238 |
| abstract_inverted_index.identify | 64 |
| abstract_inverted_index.in-frame | 4 |
| abstract_inverted_index.missense | 1, 106 |
| abstract_inverted_index.rational | 182 |
| abstract_inverted_index.servers, | 57 |
| abstract_inverted_index.spectrum | 32 |
| abstract_inverted_index.strongly | 103, 214 |
| abstract_inverted_index.subjects | 240 |
| abstract_inverted_index.suggests | 256 |
| abstract_inverted_index.syndrome | 15 |
| abstract_inverted_index.variable | 128, 234 |
| abstract_inverted_index.variants | 2, 39, 71, 110, 151, 165, 207, 244 |
| abstract_inverted_index.carriers. | 159 |
| abstract_inverted_index.coalesced | 130 |
| abstract_inverted_index.confirmed | 269 |
| abstract_inverted_index.databases | 77 |
| abstract_inverted_index.existence | 258 |
| abstract_inverted_index.features, | 175 |
| abstract_inverted_index.harboring | 163 |
| abstract_inverted_index.predicted | 68 |
| abstract_inverted_index.reported, | 43 |
| abstract_inverted_index.resources | 62 |
| abstract_inverted_index.variants, | 102, 107, 125 |
| abstract_inverted_index.additional | 260 |
| abstract_inverted_index.archetypal | 93 |
| abstract_inverted_index.associated | 35, 112 |
| abstract_inverted_index.biological | 183 |
| abstract_inverted_index.clustering | 216 |
| abstract_inverted_index.dysmorphic | 174 |
| abstract_inverted_index.epigenetic | 196 |
| abstract_inverted_index.expression | 210 |
| abstract_inverted_index.functional | 218 |
| abstract_inverted_index.hypotheses | 46 |
| abstract_inverted_index.lethality. | 53 |
| abstract_inverted_index.mechanism. | 29 |
| abstract_inverted_index.mutational | 80 |
| abstract_inverted_index.phenotypes | 49, 126 |
| abstract_inverted_index.population | 76 |
| abstract_inverted_index.signatures | 220 |
| abstract_inverted_index.Comparisons | 144 |
| abstract_inverted_index.alternative | 48, 179 |
| abstract_inverted_index.constrained | 99 |
| abstract_inverted_index.deficiency, | 22 |
| abstract_inverted_index.disability, | 20, 137 |
| abstract_inverted_index.individuals | 65, 121, 146, 162 |
| abstract_inverted_index.intolerance | 81, 230 |
| abstract_inverted_index.matchmaking | 56 |
| abstract_inverted_index.parameters, | 134 |
| abstract_inverted_index.phenotypes. | 118 |
| abstract_inverted_index.registries, | 59 |
| abstract_inverted_index.reminiscent | 140 |
| abstract_inverted_index.substantial | 227 |
| abstract_inverted_index.Furthermore, | 160 |
| abstract_inverted_index.Heterozygous | 0 |
| abstract_inverted_index.characterize | 79 |
| abstract_inverted_index.demonstrated | 152 |
| abstract_inverted_index.dysmorphism, | 24, 139 |
| abstract_inverted_index.intellectual | 19 |
| abstract_inverted_index.multilayered | 272 |
| abstract_inverted_index.nonpenetrant | 169 |
| abstract_inverted_index.phenotyping. | 278 |
| abstract_inverted_index.presentation | 156 |
| abstract_inverted_index.architecture, | 254 |
| abstract_inverted_index.developmental | 52, 117, 135, 237 |
| abstract_inverted_index.heterozygous, | 67 |
| abstract_inverted_index.developmental, | 172 |
| abstract_inverted_index.manifestations | 34 |
| abstract_inverted_index.transcriptomic | 193 |
| abstract_inverted_index.LoF-constrained | 262 |
| abstract_inverted_index.cohesinopathies, | 249 |
| abstract_inverted_index.loss-of-function | 38, 69 |
| abstract_inverted_index.population-scale | 228 |
| abstract_inverted_index.symptomatologies | 180 |
| abstract_inverted_index.dominant-negative | 28 |
| abstract_inverted_index.haploinsufficient | 94 |
| abstract_inverted_index.missense/in-frame | 149 |
| abstract_inverted_index.delay/intellectual | 136 |
| cited_by_percentile_year.max | 95 |
| cited_by_percentile_year.min | 90 |
| countries_distinct_count | 6 |
| institutions_distinct_count | 56 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/2 |
| sustainable_development_goals[0].score | 0.6100000143051147 |
| sustainable_development_goals[0].display_name | Zero hunger |
| citation_normalized_percentile.value | 0.65873927 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |