Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective Article Swipe
Silvestre Cuinat
,
Chloé Quēlin
,
Claire Effray
,
Christèle Dubourg
,
G. Le Bouar
,
Anne-Sophie Cabaret-Dufour
,
Philippe Loget
,
Maïa Proisy
,
Fanny Sauvestre
,
Mélie Sarreau
,
Sophie Martin-Berenguer
,
Claire Bénéteau
,
Sophie Naudion
,
Vincent Michaud
,
Benoı̂t Arveiler
,
Aurélien Trimouille
,
Pierre Macé
,
Sabine Sigaudy
,
Olga O. Glazunova
,
Julia Torrents
,
Laure Raymond
,
Marie‐Hélène Saint‐Frison
,
Tania Attié‐Bitach
,
Mathilde Lefebvre
,
Yline Capri
,
Nicolas Bourgon
,
Christel Thauvin‐Robinet
,
Frédéric Tran Mau‐Them
,
Ange‐Line Bruel
,
Antonio Vitobello
,
Anne‐Sophie Denommé‐Pichon
,
Laurence Faivre
,
Anne‐Claire Bréhin
,
Alice Goldenberg
,
Sophie Patrier-Sallebert
,
Alexandre Perani
,
Benjamin Dauriat
,
Sylvie Bourthoumieu
,
Catherine Yardin
,
Valentine Marquet
,
Marion Barnique
,
Maryse Fiorenza-Gasq
,
Isabelle Marey
,
D. Tournadre
,
Raïa Doumit
,
F. Nugues
,
Tahsin Stefan Barakat
,
Francisco Bustos
,
Sylvie Jaillard
,
Erika Launay
,
Laurent Pasquier
,
Sylvie Odent
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1136/jmg-2024-109854
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1136/jmg-2024-109854
Introduction Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by RLIM variations. Of the 41 patients reported, only 7 antenatal cases were described. Method After the antenatal diagnosis of TOKAS by exome analysis in a family followed for over 35 years because of multiple congenital anomalies in five male fetuses, a call for collaboration was made, resulting in a cohort of 11 previously unpublished cases. Results We present a TOKAS antenatal cohort, describing 11 new cases in 6 French families. We report a high frequency of diaphragmatic hernia (9 of 11), differences in sex development (10 of 11) and various visceral malformations. We report some recurrent dysmorphic features, but also pontocerebellar hypoplasia, pre-auricular skin tags and olfactory bulb abnormalities previously unreported in the literature. Although no clear genotype–phenotype correlation has yet emerged, we show that a recurrent p.(Arg611Cys) variant accounts for 66% of fetal TOKAS cases. We also report two new likely pathogenic variants in RLIM , outside of the two previously known mutational hotspots. Conclusion Overall, we present the first fetal cohort of TOKAS, describe the clinical features that made it a recognisable syndrome at fetopathological examination, and extend the phenotypical spectrum and the known genotype of this rare disorder.
Related Topics
Concepts
Cohort
Exome sequencing
Fetus
Pediatrics
Hypoplasia
Medicine
Phenotype
Biology
Pathology
Genetics
Pregnancy
Internal medicine
Gene
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1136/jmg-2024-109854
- https://jmg.bmj.com/content/jmedgenet/early/2024/06/07/jmg-2024-109854.full.pdf
- OA Status
- hybrid
- Cited By
- 1
- References
- 28
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4399426336
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4399426336Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1136/jmg-2024-109854Digital Object Identifier
- Title
-
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspectiveWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-06-07Full publication date if available
- Authors
-
Silvestre Cuinat, Chloé Quēlin, Claire Effray, Christèle Dubourg, G. Le Bouar, Anne-Sophie Cabaret-Dufour, Philippe Loget, Maïa Proisy, Fanny Sauvestre, Mélie Sarreau, Sophie Martin-Berenguer, Claire Bénéteau, Sophie Naudion, Vincent Michaud, Benoı̂t Arveiler, Aurélien Trimouille, Pierre Macé, Sabine Sigaudy, Olga O. Glazunova, Julia Torrents, Laure Raymond, Marie‐Hélène Saint‐Frison, Tania Attié‐Bitach, Mathilde Lefebvre, Yline Capri, Nicolas Bourgon, Christel Thauvin‐Robinet, Frédéric Tran Mau‐Them, Ange‐Line Bruel, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Laurence Faivre, Anne‐Claire Bréhin, Alice Goldenberg, Sophie Patrier-Sallebert, Alexandre Perani, Benjamin Dauriat, Sylvie Bourthoumieu, Catherine Yardin, Valentine Marquet, Marion Barnique, Maryse Fiorenza-Gasq, Isabelle Marey, D. Tournadre, Raïa Doumit, F. Nugues, Tahsin Stefan Barakat, Francisco Bustos, Sylvie Jaillard, Erika Launay, Laurent Pasquier, Sylvie OdentList of authors in order
- Landing page
-
https://doi.org/10.1136/jmg-2024-109854Publisher landing page
- PDF URL
-
https://jmg.bmj.com/content/jmedgenet/early/2024/06/07/jmg-2024-109854.full.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
-
https://jmg.bmj.com/content/jmedgenet/early/2024/06/07/jmg-2024-109854.full.pdfDirect OA link when available
- Concepts
-
Cohort, Exome sequencing, Fetus, Pediatrics, Hypoplasia, Medicine, Phenotype, Biology, Pathology, Genetics, Pregnancy, Internal medicine, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
1Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1Per-year citation counts (last 5 years)
- References (count)
-
28Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4399426336 |
|---|---|
| doi | https://doi.org/10.1136/jmg-2024-109854 |
| ids.doi | https://doi.org/10.1136/jmg-2024-109854 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/38849204 |
| ids.openalex | https://openalex.org/W4399426336 |
| fwci | 0.48024723 |
| 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 | |
| mesh[1].descriptor_ui | D008297 |
| mesh[1].is_major_topic | False |
| mesh[1].qualifier_name | |
| mesh[1].descriptor_name | Male |
| mesh[2].qualifier_ui | |
| mesh[2].descriptor_ui | D005260 |
| mesh[2].is_major_topic | False |
| mesh[2].qualifier_name | |
| mesh[2].descriptor_name | Female |
| mesh[3].qualifier_ui | Q000235 |
| mesh[3].descriptor_ui | D040181 |
| mesh[3].is_major_topic | True |
| mesh[3].qualifier_name | genetics |
| mesh[3].descriptor_name | Genetic Diseases, X-Linked |
| mesh[4].qualifier_ui | Q000473 |
| mesh[4].descriptor_ui | D040181 |
| mesh[4].is_major_topic | True |
| mesh[4].qualifier_name | pathology |
| mesh[4].descriptor_name | Genetic Diseases, X-Linked |
| mesh[5].qualifier_ui | Q000175 |
| mesh[5].descriptor_ui | D040181 |
| mesh[5].is_major_topic | True |
| mesh[5].qualifier_name | diagnosis |
| mesh[5].descriptor_name | Genetic Diseases, X-Linked |
| mesh[6].qualifier_ui | Q000473 |
| mesh[6].descriptor_ui | D005333 |
| mesh[6].is_major_topic | False |
| mesh[6].qualifier_name | pathology |
| mesh[6].descriptor_name | Fetus |
| 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 | D011296 |
| mesh[9].is_major_topic | False |
| mesh[9].qualifier_name | |
| mesh[9].descriptor_name | Prenatal Diagnosis |
| mesh[10].qualifier_ui | |
| mesh[10].descriptor_ui | D000073359 |
| mesh[10].is_major_topic | False |
| mesh[10].qualifier_name | |
| mesh[10].descriptor_name | Exome Sequencing |
| mesh[11].qualifier_ui | Q000379 |
| mesh[11].descriptor_ui | D056726 |
| mesh[11].is_major_topic | False |
| mesh[11].qualifier_name | methods |
| mesh[11].descriptor_name | Genetic Association Studies |
| mesh[12].qualifier_ui | Q000235 |
| mesh[12].descriptor_ui | D000015 |
| mesh[12].is_major_topic | False |
| mesh[12].qualifier_name | genetics |
| mesh[12].descriptor_name | Abnormalities, Multiple |
| mesh[13].qualifier_ui | Q000473 |
| mesh[13].descriptor_ui | D000015 |
| mesh[13].is_major_topic | False |
| mesh[13].qualifier_name | pathology |
| mesh[13].descriptor_name | Abnormalities, Multiple |
| mesh[14].qualifier_ui | Q000175 |
| mesh[14].descriptor_ui | D000015 |
| mesh[14].is_major_topic | False |
| mesh[14].qualifier_name | diagnosis |
| mesh[14].descriptor_name | Abnormalities, Multiple |
| mesh[15].qualifier_ui | |
| mesh[15].descriptor_ui | D010375 |
| mesh[15].is_major_topic | False |
| mesh[15].qualifier_name | |
| mesh[15].descriptor_name | Pedigree |
| mesh[16].qualifier_ui | |
| mesh[16].descriptor_ui | D011247 |
| mesh[16].is_major_topic | False |
| mesh[16].qualifier_name | |
| mesh[16].descriptor_name | Pregnancy |
| mesh[17].qualifier_ui | |
| mesh[17].descriptor_ui | D006801 |
| mesh[17].is_major_topic | False |
| mesh[17].qualifier_name | |
| mesh[17].descriptor_name | Humans |
| mesh[18].qualifier_ui | |
| mesh[18].descriptor_ui | D008297 |
| mesh[18].is_major_topic | False |
| mesh[18].qualifier_name | |
| mesh[18].descriptor_name | Male |
| mesh[19].qualifier_ui | |
| mesh[19].descriptor_ui | D005260 |
| mesh[19].is_major_topic | False |
| mesh[19].qualifier_name | |
| mesh[19].descriptor_name | Female |
| mesh[20].qualifier_ui | Q000235 |
| mesh[20].descriptor_ui | D040181 |
| mesh[20].is_major_topic | True |
| mesh[20].qualifier_name | genetics |
| mesh[20].descriptor_name | Genetic Diseases, X-Linked |
| mesh[21].qualifier_ui | Q000473 |
| mesh[21].descriptor_ui | D040181 |
| mesh[21].is_major_topic | True |
| mesh[21].qualifier_name | pathology |
| mesh[21].descriptor_name | Genetic Diseases, X-Linked |
| mesh[22].qualifier_ui | Q000175 |
| mesh[22].descriptor_ui | D040181 |
| mesh[22].is_major_topic | True |
| mesh[22].qualifier_name | diagnosis |
| mesh[22].descriptor_name | Genetic Diseases, X-Linked |
| mesh[23].qualifier_ui | Q000473 |
| mesh[23].descriptor_ui | D005333 |
| mesh[23].is_major_topic | False |
| mesh[23].qualifier_name | pathology |
| mesh[23].descriptor_name | Fetus |
| mesh[24].qualifier_ui | |
| mesh[24].descriptor_ui | D009154 |
| mesh[24].is_major_topic | False |
| mesh[24].qualifier_name | |
| mesh[24].descriptor_name | Mutation |
| mesh[25].qualifier_ui | |
| mesh[25].descriptor_ui | D010641 |
| mesh[25].is_major_topic | False |
| mesh[25].qualifier_name | |
| mesh[25].descriptor_name | Phenotype |
| mesh[26].qualifier_ui | |
| mesh[26].descriptor_ui | D011296 |
| mesh[26].is_major_topic | False |
| mesh[26].qualifier_name | |
| mesh[26].descriptor_name | Prenatal Diagnosis |
| mesh[27].qualifier_ui | |
| mesh[27].descriptor_ui | D000073359 |
| mesh[27].is_major_topic | False |
| mesh[27].qualifier_name | |
| mesh[27].descriptor_name | Exome Sequencing |
| mesh[28].qualifier_ui | Q000379 |
| mesh[28].descriptor_ui | D056726 |
| mesh[28].is_major_topic | False |
| mesh[28].qualifier_name | methods |
| mesh[28].descriptor_name | Genetic Association Studies |
| mesh[29].qualifier_ui | Q000235 |
| mesh[29].descriptor_ui | D000015 |
| mesh[29].is_major_topic | False |
| mesh[29].qualifier_name | genetics |
| mesh[29].descriptor_name | Abnormalities, Multiple |
| mesh[30].qualifier_ui | Q000473 |
| mesh[30].descriptor_ui | D000015 |
| mesh[30].is_major_topic | False |
| mesh[30].qualifier_name | pathology |
| mesh[30].descriptor_name | Abnormalities, Multiple |
| mesh[31].qualifier_ui | Q000175 |
| mesh[31].descriptor_ui | D000015 |
| mesh[31].is_major_topic | False |
| mesh[31].qualifier_name | diagnosis |
| mesh[31].descriptor_name | Abnormalities, Multiple |
| mesh[32].qualifier_ui | |
| mesh[32].descriptor_ui | D010375 |
| mesh[32].is_major_topic | False |
| mesh[32].qualifier_name | |
| mesh[32].descriptor_name | Pedigree |
| mesh[33].qualifier_ui | |
| mesh[33].descriptor_ui | D011247 |
| mesh[33].is_major_topic | False |
| mesh[33].qualifier_name | |
| mesh[33].descriptor_name | Pregnancy |
| mesh[34].qualifier_ui | |
| mesh[34].descriptor_ui | D006801 |
| mesh[34].is_major_topic | False |
| mesh[34].qualifier_name | |
| mesh[34].descriptor_name | Humans |
| mesh[35].qualifier_ui | |
| mesh[35].descriptor_ui | D008297 |
| mesh[35].is_major_topic | False |
| mesh[35].qualifier_name | |
| mesh[35].descriptor_name | Male |
| mesh[36].qualifier_ui | |
| mesh[36].descriptor_ui | D005260 |
| mesh[36].is_major_topic | False |
| mesh[36].qualifier_name | |
| mesh[36].descriptor_name | Female |
| mesh[37].qualifier_ui | Q000235 |
| mesh[37].descriptor_ui | D040181 |
| mesh[37].is_major_topic | True |
| mesh[37].qualifier_name | genetics |
| mesh[37].descriptor_name | Genetic Diseases, X-Linked |
| mesh[38].qualifier_ui | Q000473 |
| mesh[38].descriptor_ui | D040181 |
| mesh[38].is_major_topic | True |
| mesh[38].qualifier_name | pathology |
| mesh[38].descriptor_name | Genetic Diseases, X-Linked |
| mesh[39].qualifier_ui | Q000175 |
| mesh[39].descriptor_ui | D040181 |
| mesh[39].is_major_topic | True |
| mesh[39].qualifier_name | diagnosis |
| mesh[39].descriptor_name | Genetic Diseases, X-Linked |
| mesh[40].qualifier_ui | Q000473 |
| mesh[40].descriptor_ui | D005333 |
| mesh[40].is_major_topic | False |
| mesh[40].qualifier_name | pathology |
| mesh[40].descriptor_name | Fetus |
| mesh[41].qualifier_ui | |
| mesh[41].descriptor_ui | D009154 |
| mesh[41].is_major_topic | False |
| mesh[41].qualifier_name | |
| mesh[41].descriptor_name | Mutation |
| mesh[42].qualifier_ui | |
| mesh[42].descriptor_ui | D010641 |
| mesh[42].is_major_topic | False |
| mesh[42].qualifier_name | |
| mesh[42].descriptor_name | Phenotype |
| mesh[43].qualifier_ui | |
| mesh[43].descriptor_ui | D011296 |
| mesh[43].is_major_topic | False |
| mesh[43].qualifier_name | |
| mesh[43].descriptor_name | Prenatal Diagnosis |
| mesh[44].qualifier_ui | |
| mesh[44].descriptor_ui | D000073359 |
| mesh[44].is_major_topic | False |
| mesh[44].qualifier_name | |
| mesh[44].descriptor_name | Exome Sequencing |
| mesh[45].qualifier_ui | Q000379 |
| mesh[45].descriptor_ui | D056726 |
| mesh[45].is_major_topic | False |
| mesh[45].qualifier_name | methods |
| mesh[45].descriptor_name | Genetic Association Studies |
| mesh[46].qualifier_ui | Q000235 |
| mesh[46].descriptor_ui | D000015 |
| mesh[46].is_major_topic | False |
| mesh[46].qualifier_name | genetics |
| mesh[46].descriptor_name | Abnormalities, Multiple |
| mesh[47].qualifier_ui | Q000473 |
| mesh[47].descriptor_ui | D000015 |
| mesh[47].is_major_topic | False |
| mesh[47].qualifier_name | pathology |
| mesh[47].descriptor_name | Abnormalities, Multiple |
| mesh[48].qualifier_ui | Q000175 |
| mesh[48].descriptor_ui | D000015 |
| mesh[48].is_major_topic | False |
| mesh[48].qualifier_name | diagnosis |
| mesh[48].descriptor_name | Abnormalities, Multiple |
| mesh[49].qualifier_ui | |
| mesh[49].descriptor_ui | D010375 |
| mesh[49].is_major_topic | False |
| mesh[49].qualifier_name | |
| mesh[49].descriptor_name | Pedigree |
| type | article |
| title | Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective |
| biblio.issue | 9 |
| biblio.volume | 61 |
| biblio.last_page | 832 |
| biblio.first_page | 824 |
| grants[0].funder | https://openalex.org/F4320321007 |
| grants[0].award_id | 09150172110002 |
| grants[0].funder_display_name | ZonMw |
| 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 | 0.9991999864578247 |
| 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/T10604 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9919000267982483 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1312 |
| topics[1].subfield.display_name | Molecular Biology |
| topics[1].display_name | RNA Research and Splicing |
| topics[2].id | https://openalex.org/T10499 |
| topics[2].field.id | https://openalex.org/fields/27 |
| topics[2].field.display_name | Medicine |
| topics[2].score | 0.9886999726295471 |
| topics[2].domain.id | https://openalex.org/domains/4 |
| topics[2].domain.display_name | Health Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/2745 |
| topics[2].subfield.display_name | Rheumatology |
| topics[2].display_name | Folate and B Vitamins Research |
| funders[0].id | https://openalex.org/F4320321007 |
| funders[0].ror | https://ror.org/01yaj9a77 |
| funders[0].display_name | ZonMw |
| is_xpac | False |
| apc_list | |
| apc_paid.value | 4099 |
| apc_paid.currency | EUR |
| apc_paid.value_usd | 4420 |
| concepts[0].id | https://openalex.org/C72563966 |
| concepts[0].level | 2 |
| concepts[0].score | 0.7369332313537598 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q1303415 |
| concepts[0].display_name | Cohort |
| concepts[1].id | https://openalex.org/C16671776 |
| concepts[1].level | 4 |
| concepts[1].score | 0.5239135026931763 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q5420592 |
| concepts[1].display_name | Exome sequencing |
| concepts[2].id | https://openalex.org/C172680121 |
| concepts[2].level | 3 |
| concepts[2].score | 0.5134657025337219 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q26513 |
| concepts[2].display_name | Fetus |
| concepts[3].id | https://openalex.org/C187212893 |
| concepts[3].level | 1 |
| concepts[3].score | 0.46550682187080383 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q123028 |
| concepts[3].display_name | Pediatrics |
| concepts[4].id | https://openalex.org/C2780327212 |
| concepts[4].level | 2 |
| concepts[4].score | 0.45394331216812134 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q1568160 |
| concepts[4].display_name | Hypoplasia |
| concepts[5].id | https://openalex.org/C71924100 |
| concepts[5].level | 0 |
| concepts[5].score | 0.41134870052337646 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[5].display_name | Medicine |
| concepts[6].id | https://openalex.org/C127716648 |
| concepts[6].level | 3 |
| concepts[6].score | 0.3915245532989502 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q104053 |
| concepts[6].display_name | Phenotype |
| concepts[7].id | https://openalex.org/C86803240 |
| concepts[7].level | 0 |
| concepts[7].score | 0.34082385897636414 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[7].display_name | Biology |
| concepts[8].id | https://openalex.org/C142724271 |
| concepts[8].level | 1 |
| concepts[8].score | 0.3286173939704895 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q7208 |
| concepts[8].display_name | Pathology |
| concepts[9].id | https://openalex.org/C54355233 |
| concepts[9].level | 1 |
| concepts[9].score | 0.30442118644714355 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[9].display_name | Genetics |
| concepts[10].id | https://openalex.org/C2779234561 |
| concepts[10].level | 2 |
| concepts[10].score | 0.2066655457019806 |
| concepts[10].wikidata | https://www.wikidata.org/wiki/Q11995 |
| concepts[10].display_name | Pregnancy |
| concepts[11].id | https://openalex.org/C126322002 |
| concepts[11].level | 1 |
| concepts[11].score | 0.19506195187568665 |
| concepts[11].wikidata | https://www.wikidata.org/wiki/Q11180 |
| concepts[11].display_name | Internal medicine |
| concepts[12].id | https://openalex.org/C104317684 |
| concepts[12].level | 2 |
| concepts[12].score | 0.07368472218513489 |
| concepts[12].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[12].display_name | Gene |
| keywords[0].id | https://openalex.org/keywords/cohort |
| keywords[0].score | 0.7369332313537598 |
| keywords[0].display_name | Cohort |
| keywords[1].id | https://openalex.org/keywords/exome-sequencing |
| keywords[1].score | 0.5239135026931763 |
| keywords[1].display_name | Exome sequencing |
| keywords[2].id | https://openalex.org/keywords/fetus |
| keywords[2].score | 0.5134657025337219 |
| keywords[2].display_name | Fetus |
| keywords[3].id | https://openalex.org/keywords/pediatrics |
| keywords[3].score | 0.46550682187080383 |
| keywords[3].display_name | Pediatrics |
| keywords[4].id | https://openalex.org/keywords/hypoplasia |
| keywords[4].score | 0.45394331216812134 |
| keywords[4].display_name | Hypoplasia |
| keywords[5].id | https://openalex.org/keywords/medicine |
| keywords[5].score | 0.41134870052337646 |
| keywords[5].display_name | Medicine |
| keywords[6].id | https://openalex.org/keywords/phenotype |
| keywords[6].score | 0.3915245532989502 |
| keywords[6].display_name | Phenotype |
| keywords[7].id | https://openalex.org/keywords/biology |
| keywords[7].score | 0.34082385897636414 |
| keywords[7].display_name | Biology |
| keywords[8].id | https://openalex.org/keywords/pathology |
| keywords[8].score | 0.3286173939704895 |
| keywords[8].display_name | Pathology |
| keywords[9].id | https://openalex.org/keywords/genetics |
| keywords[9].score | 0.30442118644714355 |
| keywords[9].display_name | Genetics |
| keywords[10].id | https://openalex.org/keywords/pregnancy |
| keywords[10].score | 0.2066655457019806 |
| keywords[10].display_name | Pregnancy |
| keywords[11].id | https://openalex.org/keywords/internal-medicine |
| keywords[11].score | 0.19506195187568665 |
| keywords[11].display_name | Internal medicine |
| keywords[12].id | https://openalex.org/keywords/gene |
| keywords[12].score | 0.07368472218513489 |
| keywords[12].display_name | Gene |
| language | en |
| locations[0].id | doi:10.1136/jmg-2024-109854 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S112540174 |
| locations[0].source.issn | 0022-2593, 1468-6244 |
| locations[0].source.type | journal |
| locations[0].source.is_oa | False |
| locations[0].source.issn_l | 0022-2593 |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | False |
| locations[0].source.display_name | Journal of Medical Genetics |
| locations[0].source.host_organization | https://openalex.org/P4310319945 |
| locations[0].source.host_organization_name | BMJ |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310319945 |
| locations[0].license | cc-by |
| locations[0].pdf_url | https://jmg.bmj.com/content/jmedgenet/early/2024/06/07/jmg-2024-109854.full.pdf |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | https://openalex.org/licenses/cc-by |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | Journal of Medical Genetics |
| locations[0].landing_page_url | https://doi.org/10.1136/jmg-2024-109854 |
| locations[1].id | pmid:38849204 |
| 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 | Journal of medical genetics |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/38849204 |
| locations[2].id | pmh:oai:oskar-bordeaux.fr:20.500.12278/201339 |
| locations[2].is_oa | True |
| locations[2].source.id | https://openalex.org/S4306402569 |
| 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 | Oskar-Bordeaux (Universite de Bordeaux) |
| locations[2].source.host_organization | |
| locations[2].source.host_organization_name | |
| locations[2].source.host_organization_lineage | |
| locations[2].license | cc-by |
| locations[2].pdf_url | |
| locations[2].version | submittedVersion |
| locations[2].raw_type | Article de revue |
| locations[2].license_id | https://openalex.org/licenses/cc-by |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | |
| locations[2].landing_page_url | https://oskar-bordeaux.fr/handle/20.500.12278/201339 |
| locations[3].id | pmh:oai:HAL:hal-04615749v1 |
| locations[3].is_oa | True |
| locations[3].source.id | https://openalex.org/S4306402512 |
| 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 | HAL (Le Centre pour la Communication Scientifique Directe) |
| locations[3].source.host_organization | https://openalex.org/I1294671590 |
| locations[3].source.host_organization_name | Centre National de la Recherche Scientifique |
| locations[3].source.host_organization_lineage | https://openalex.org/I1294671590 |
| locations[3].license | cc-by |
| locations[3].pdf_url | |
| locations[3].version | submittedVersion |
| locations[3].raw_type | Journal articles |
| locations[3].license_id | https://openalex.org/licenses/cc-by |
| locations[3].is_accepted | False |
| locations[3].is_published | False |
| locations[3].raw_source_name | Journal of Medical Genetics, 2024, pp.jmg-2024-109854. ⟨10.1136/jmg-2024-109854⟩ |
| locations[3].landing_page_url | https://univ-rennes.hal.science/hal-04615749 |
| locations[4].id | pmh:oai:open-archive.highwire.org:jmedgenet:61/9/824 |
| locations[4].is_oa | False |
| locations[4].source | |
| locations[4].license | |
| locations[4].pdf_url | |
| locations[4].version | submittedVersion |
| locations[4].raw_type | TEXT |
| locations[4].license_id | |
| locations[4].is_accepted | False |
| locations[4].is_published | False |
| locations[4].raw_source_name | |
| locations[4].landing_page_url | http://jmg.bmj.com/cgi/content/short/61/9/824 |
| locations[5].id | pmh:oai:pubmedcentral.nih.gov:11420740 |
| locations[5].is_oa | True |
| locations[5].source.id | https://openalex.org/S2764455111 |
| locations[5].source.issn | |
| locations[5].source.type | repository |
| locations[5].source.is_oa | False |
| locations[5].source.issn_l | |
| locations[5].source.is_core | False |
| locations[5].source.is_in_doaj | False |
| locations[5].source.display_name | PubMed Central |
| locations[5].source.host_organization | https://openalex.org/I1299303238 |
| locations[5].source.host_organization_name | National Institutes of Health |
| locations[5].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[5].license | other-oa |
| locations[5].pdf_url | |
| locations[5].version | submittedVersion |
| locations[5].raw_type | Text |
| locations[5].license_id | https://openalex.org/licenses/other-oa |
| locations[5].is_accepted | False |
| locations[5].is_published | False |
| locations[5].raw_source_name | J Med Genet |
| locations[5].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/11420740 |
| indexed_in | crossref, pubmed |
| authorships[0].author.id | https://openalex.org/A5043305705 |
| authorships[0].author.orcid | https://orcid.org/0000-0002-0763-5661 |
| authorships[0].author.display_name | Silvestre Cuinat |
| authorships[0].countries | FR |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I4210155724 |
| authorships[0].affiliations[0].raw_affiliation_string | Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France |
| authorships[0].institutions[0].id | https://openalex.org/I4210155724 |
| authorships[0].institutions[0].ror | https://ror.org/05qec5a53 |
| authorships[0].institutions[0].type | healthcare |
| authorships[0].institutions[0].lineage | https://openalex.org/I4210155724 |
| authorships[0].institutions[0].country_code | FR |
| authorships[0].institutions[0].display_name | Centre Hospitalier Universitaire de Rennes |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Silvestre Cuinat |
| authorships[0].is_corresponding | True |
| authorships[0].raw_affiliation_strings | Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France |
| authorships[1].author.id | https://openalex.org/A5072893527 |
| authorships[1].author.orcid | https://orcid.org/0000-0002-1629-378X |
| authorships[1].author.display_name | Chloé Quēlin |
| authorships[1].countries | FR |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I4210124872, https://openalex.org/I4210155724 |
| authorships[1].affiliations[0].raw_affiliation_string | Service d'Anatomie et Cytologie Pathologiques, Hôpital Pontchaillou, CHU Rennes, Rennes, France |
| authorships[1].affiliations[1].institution_ids | https://openalex.org/I4210155724 |
| authorships[1].affiliations[1].raw_affiliation_string | Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France |
| authorships[1].institutions[0].id | https://openalex.org/I4210155724 |
| authorships[1].institutions[0].ror | https://ror.org/05qec5a53 |
| authorships[1].institutions[0].type | healthcare |
| authorships[1].institutions[0].lineage | https://openalex.org/I4210155724 |
| authorships[1].institutions[0].country_code | FR |
| authorships[1].institutions[0].display_name | Centre Hospitalier Universitaire de Rennes |
| authorships[1].institutions[1].id | https://openalex.org/I4210124872 |
| authorships[1].institutions[1].ror | https://ror.org/02r25sw81 |
| authorships[1].institutions[1].type | healthcare |
| authorships[1].institutions[1].lineage | https://openalex.org/I4210124872, https://openalex.org/I4210155724 |
| authorships[1].institutions[1].country_code | FR |
| authorships[1].institutions[1].display_name | Hôpital Pontchaillou |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Chloé Quélin |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Service d'Anatomie et Cytologie Pathologiques, Hôpital Pontchaillou, CHU Rennes, Rennes, France, Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France |
| authorships[2].author.id | https://openalex.org/A5099420391 |
| authorships[2].author.orcid | |
| authorships[2].author.display_name | Claire Effray |
| authorships[2].countries | FR |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I4210155724 |
| authorships[2].affiliations[0].raw_affiliation_string | Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France |
| authorships[2].institutions[0].id | https://openalex.org/I4210155724 |
| authorships[2].institutions[0].ror | https://ror.org/05qec5a53 |
| authorships[2].institutions[0].type | healthcare |
| authorships[2].institutions[0].lineage | https://openalex.org/I4210155724 |
| authorships[2].institutions[0].country_code | FR |
| authorships[2].institutions[0].display_name | Centre Hospitalier Universitaire de Rennes |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Claire Effray |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Service de Génétique Clinique, CRMR anomalies du développement CLAD-Ouest, CHU Rennes, Rennes, France |
| authorships[3].author.id | https://openalex.org/A5054136534 |
| authorships[3].author.orcid | https://orcid.org/0000-0003-1345-4522 |
| authorships[3].author.display_name | Christèle Dubourg |
| authorships[3].countries | FR |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I4210127029, https://openalex.org/I4210127029, https://openalex.org/I56067802, https://openalex.org/I56067802, https://openalex.org/I154526488, https://openalex.org/I154526488 |
| authorships[3].affiliations[0].raw_affiliation_string | CNRS, INSERM UMR 6290, ERL U1305, F-35000, Université de Rennes, IGDR, Rennes, France |
| authorships[3].affiliations[1].institution_ids | https://openalex.org/I4210124872, https://openalex.org/I4210155724 |
| authorships[3].affiliations[1].raw_affiliation_string | Laboratoire de Génétique Moléculaire, Hôpital Pontchaillou, CHU Rennes, Rennes, France |
| authorships[3].institutions[0].id | https://openalex.org/I4210155724 |
| authorships[3].institutions[0].ror | https://ror.org/05qec5a53 |
| authorships[3].institutions[0].type | healthcare |
| authorships[3].institutions[0].lineage | https://openalex.org/I4210155724 |
| authorships[3].institutions[0].country_code | FR |
| authorships[3].institutions[0].display_name | Centre Hospitalier Universitaire de Rennes |
| authorships[3].institutions[1].id | https://openalex.org/I1294671590 |
| authorships[3].institutions[1].ror | https://ror.org/02feahw73 |
| authorships[3].institutions[1].type | government |
| authorships[3].institutions[1].lineage | https://openalex.org/I1294671590 |
| authorships[3].institutions[1].country_code | FR |
| authorships[3].institutions[1].display_name | Centre National de la Recherche Scientifique |
| authorships[3].institutions[2].id | https://openalex.org/I4210124872 |
| authorships[3].institutions[2].ror | https://ror.org/02r25sw81 |
| authorships[3].institutions[2].type | healthcare |
| authorships[3].institutions[2].lineage | https://openalex.org/I4210124872, https://openalex.org/I4210155724 |
| authorships[3].institutions[2].country_code | FR |
| authorships[3].institutions[2].display_name | Hôpital Pontchaillou |
| authorships[3].institutions[3].id | https://openalex.org/I154526488 |
| authorships[3].institutions[3].ror | https://ror.org/02vjkv261 |
| authorships[3].institutions[3].type | government |
| authorships[3].institutions[3].lineage | https://openalex.org/I154526488 |
| authorships[3].institutions[3].country_code | FR |
| authorships[3].institutions[3].display_name | Inserm |
| authorships[3].institutions[4].id | https://openalex.org/I4210127029 |
| authorships[3].institutions[4].ror | https://ror.org/036xhtv26 |
| authorships[3].institutions[4].type | facility |
| authorships[3].institutions[4].lineage | https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I4210096427, https://openalex.org/I4210127029, https://openalex.org/I56067802 |
| authorships[3].institutions[4].country_code | FR |
| authorships[3].institutions[4].display_name | Institut de génétique et de développement de Rennes |
| authorships[3].institutions[5].id | https://openalex.org/I56067802 |
| authorships[3].institutions[5].ror | https://ror.org/015m7wh34 |
| authorships[3].institutions[5].type | education |
| authorships[3].institutions[5].lineage | https://openalex.org/I56067802 |
| authorships[3].institutions[5].country_code | FR |
| authorships[3].institutions[5].display_name | Université de Rennes |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Christèle Dubourg |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | CNRS, INSERM UMR 6290, ERL U1305, F-35000, Université de Rennes, IGDR, Rennes, France, Laboratoire de Génétique Moléculaire, Hôpital Pontchaillou, CHU Rennes, Rennes, France |
| authorships[4].author.id | https://openalex.org/A5110649411 |
| authorships[4].author.orcid | |
| authorships[4].author.display_name | G. Le Bouar |
| authorships[4].countries | FR |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I4210155724 |
| authorships[4].affiliations[0].raw_affiliation_string | Unité de Médecine fœtale, Service de Gynécologie-Obstétrique, CHU Rennes, Rennes, France |
| authorships[4].institutions[0].id | https://openalex.org/I4210155724 |
| authorships[4].institutions[0].ror | https://ror.org/05qec5a53 |
| authorships[4].institutions[0].type | healthcare |
| authorships[4].institutions[0].lineage | https://openalex.org/I4210155724 |
| authorships[4].institutions[0].country_code | FR |
| authorships[4].institutions[0].display_name | Centre Hospitalier Universitaire de Rennes |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Gwenaelle Le Bouar |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Unité de Médecine fœtale, Service de Gynécologie-Obstétrique, CHU Rennes, Rennes, France |
| authorships[5].author.id | https://openalex.org/A5028584192 |
| authorships[5].author.orcid | |
| authorships[5].author.display_name | Anne-Sophie Cabaret-Dufour |
| authorships[5].countries | FR |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I4210155724 |
| authorships[5].affiliations[0].raw_affiliation_string | Unité de Médecine fœtale, Service de Gynécologie-Obstétrique, CHU Rennes, Rennes, France |
| authorships[5].institutions[0].id | https://openalex.org/I4210155724 |
| authorships[5].institutions[0].ror | https://ror.org/05qec5a53 |
| authorships[5].institutions[0].type | healthcare |
| authorships[5].institutions[0].lineage | https://openalex.org/I4210155724 |
| authorships[5].institutions[0].country_code | FR |
| authorships[5].institutions[0].display_name | Centre Hospitalier Universitaire de Rennes |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Anne-Sophie Cabaret-Dufour |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Unité de Médecine fœtale, Service de Gynécologie-Obstétrique, CHU Rennes, Rennes, France |
| authorships[6].author.id | https://openalex.org/A5071013433 |
| authorships[6].author.orcid | |
| authorships[6].author.display_name | Philippe Loget |
| authorships[6].countries | FR |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I4210124872, https://openalex.org/I4210155724 |
| authorships[6].affiliations[0].raw_affiliation_string | Service d'Anatomie et Cytologie Pathologiques, Hôpital Pontchaillou, CHU Rennes, Rennes, France |
| authorships[6].institutions[0].id | https://openalex.org/I4210155724 |
| authorships[6].institutions[0].ror | https://ror.org/05qec5a53 |
| authorships[6].institutions[0].type | healthcare |
| authorships[6].institutions[0].lineage | https://openalex.org/I4210155724 |
| authorships[6].institutions[0].country_code | FR |
| authorships[6].institutions[0].display_name | Centre Hospitalier Universitaire de Rennes |
| authorships[6].institutions[1].id | https://openalex.org/I4210124872 |
| authorships[6].institutions[1].ror | https://ror.org/02r25sw81 |
| authorships[6].institutions[1].type | healthcare |
| authorships[6].institutions[1].lineage | https://openalex.org/I4210124872, https://openalex.org/I4210155724 |
| authorships[6].institutions[1].country_code | FR |
| authorships[6].institutions[1].display_name | Hôpital Pontchaillou |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Philippe Loget |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Service d'Anatomie et Cytologie Pathologiques, Hôpital Pontchaillou, CHU Rennes, Rennes, France |
| authorships[7].author.id | https://openalex.org/A5056313049 |
| authorships[7].author.orcid | https://orcid.org/0000-0003-3106-5627 |
| authorships[7].author.display_name | Maïa Proisy |
| authorships[7].countries | FR |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I4210132604 |
| authorships[7].affiliations[0].raw_affiliation_string | Radiology Department, CHU de Brest, Brest, France |
| authorships[7].institutions[0].id | https://openalex.org/I4210132604 |
| authorships[7].institutions[0].ror | https://ror.org/03evbwn87 |
| authorships[7].institutions[0].type | healthcare |
| authorships[7].institutions[0].lineage | https://openalex.org/I154526488, https://openalex.org/I4210105774, https://openalex.org/I4210132604, https://openalex.org/I4210161065 |
| authorships[7].institutions[0].country_code | FR |
| authorships[7].institutions[0].display_name | Centre Hospitalier Régional Universitaire de Brest |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Maia Proisy |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Radiology Department, CHU de Brest, Brest, France |
| authorships[8].author.id | https://openalex.org/A5009649709 |
| authorships[8].author.orcid | https://orcid.org/0000-0001-6759-0648 |
| authorships[8].author.display_name | Fanny Sauvestre |
| authorships[8].countries | FR |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I3018323443 |
| authorships[8].affiliations[0].raw_affiliation_string | Unité de Pathologie Fœto-placentaire, Service de Pathologie, CHU de Bordeaux, Bordeaux, France |
| authorships[8].institutions[0].id | https://openalex.org/I3018323443 |
| authorships[8].institutions[0].ror | https://ror.org/01hq89f96 |
| authorships[8].institutions[0].type | healthcare |
| authorships[8].institutions[0].lineage | https://openalex.org/I3018323443 |
| authorships[8].institutions[0].country_code | FR |
| authorships[8].institutions[0].display_name | Centre Hospitalier Universitaire de Bordeaux |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Fanny Sauvestre |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Unité de Pathologie Fœto-placentaire, Service de Pathologie, CHU de Bordeaux, Bordeaux, France |
| authorships[9].author.id | https://openalex.org/A5009709290 |
| authorships[9].author.orcid | https://orcid.org/0000-0003-4852-1465 |
| authorships[9].author.display_name | Mélie Sarreau |
| authorships[9].countries | FR |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I3018323443 |
| authorships[9].affiliations[0].raw_affiliation_string | Unité de Pathologie Fœto-placentaire, Service de Pathologie, CHU de Bordeaux, Bordeaux, France |
| authorships[9].institutions[0].id | https://openalex.org/I3018323443 |
| authorships[9].institutions[0].ror | https://ror.org/01hq89f96 |
| authorships[9].institutions[0].type | healthcare |
| authorships[9].institutions[0].lineage | https://openalex.org/I3018323443 |
| authorships[9].institutions[0].country_code | FR |
| authorships[9].institutions[0].display_name | Centre Hospitalier Universitaire de Bordeaux |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Mélie Sarreau |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Unité de Pathologie Fœto-placentaire, Service de Pathologie, CHU de Bordeaux, Bordeaux, France |
| authorships[10].author.id | https://openalex.org/A5099420390 |
| authorships[10].author.orcid | |
| authorships[10].author.display_name | Sophie Martin-Berenguer |
| authorships[10].countries | FR |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I3018323443 |
| authorships[10].affiliations[0].raw_affiliation_string | Unité de Pathologie Fœto-placentaire, Service de Pathologie, CHU de Bordeaux, Bordeaux, France |
| authorships[10].affiliations[1].institution_ids | https://openalex.org/I4210118469 |
| authorships[10].affiliations[1].raw_affiliation_string | Department of Gynaecology and Obstetrics, Mother and Children's Hospital, CHU Limoges, Limoges, France |
| authorships[10].institutions[0].id | https://openalex.org/I3018323443 |
| authorships[10].institutions[0].ror | https://ror.org/01hq89f96 |
| authorships[10].institutions[0].type | healthcare |
| authorships[10].institutions[0].lineage | https://openalex.org/I3018323443 |
| authorships[10].institutions[0].country_code | FR |
| authorships[10].institutions[0].display_name | Centre Hospitalier Universitaire de Bordeaux |
| authorships[10].institutions[1].id | https://openalex.org/I4210118469 |
| authorships[10].institutions[1].ror | https://ror.org/01tc2d264 |
| authorships[10].institutions[1].type | healthcare |
| authorships[10].institutions[1].lineage | https://openalex.org/I4210118469 |
| authorships[10].institutions[1].country_code | FR |
| authorships[10].institutions[1].display_name | Centre Hospitalier Universitaire de Limoges |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Sophie Martin-Berenguer |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | Department of Gynaecology and Obstetrics, Mother and Children's Hospital, CHU Limoges, Limoges, France, Unité de Pathologie Fœto-placentaire, Service de Pathologie, CHU de Bordeaux, Bordeaux, France |
| authorships[11].author.id | https://openalex.org/A5014838557 |
| authorships[11].author.orcid | https://orcid.org/0000-0002-1682-523X |
| authorships[11].author.display_name | Claire Bénéteau |
| authorships[11].countries | FR |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I3018323443 |
| authorships[11].affiliations[0].raw_affiliation_string | Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France |
| authorships[11].institutions[0].id | https://openalex.org/I3018323443 |
| authorships[11].institutions[0].ror | https://ror.org/01hq89f96 |
| authorships[11].institutions[0].type | healthcare |
| authorships[11].institutions[0].lineage | https://openalex.org/I3018323443 |
| authorships[11].institutions[0].country_code | FR |
| authorships[11].institutions[0].display_name | Centre Hospitalier Universitaire de Bordeaux |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Claire Beneteau |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France |
| authorships[12].author.id | https://openalex.org/A5033832652 |
| authorships[12].author.orcid | |
| authorships[12].author.display_name | Sophie Naudion |
| authorships[12].countries | FR |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I3018323443 |
| authorships[12].affiliations[0].raw_affiliation_string | Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France |
| authorships[12].institutions[0].id | https://openalex.org/I3018323443 |
| authorships[12].institutions[0].ror | https://ror.org/01hq89f96 |
| authorships[12].institutions[0].type | healthcare |
| authorships[12].institutions[0].lineage | https://openalex.org/I3018323443 |
| authorships[12].institutions[0].country_code | FR |
| authorships[12].institutions[0].display_name | Centre Hospitalier Universitaire de Bordeaux |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | Sophie Naudion |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France |
| authorships[13].author.id | https://openalex.org/A5089119336 |
| authorships[13].author.orcid | https://orcid.org/0000-0002-5788-392X |
| authorships[13].author.display_name | Vincent Michaud |
| authorships[13].countries | FR |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I3018323443 |
| authorships[13].affiliations[0].raw_affiliation_string | Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France |
| authorships[13].affiliations[1].institution_ids | https://openalex.org/I15057530, https://openalex.org/I154526488 |
| authorships[13].affiliations[1].raw_affiliation_string | INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France |
| authorships[13].institutions[0].id | https://openalex.org/I3018323443 |
| authorships[13].institutions[0].ror | https://ror.org/01hq89f96 |
| authorships[13].institutions[0].type | healthcare |
| authorships[13].institutions[0].lineage | https://openalex.org/I3018323443 |
| authorships[13].institutions[0].country_code | FR |
| authorships[13].institutions[0].display_name | Centre Hospitalier Universitaire de Bordeaux |
| authorships[13].institutions[1].id | https://openalex.org/I154526488 |
| authorships[13].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[13].institutions[1].type | government |
| authorships[13].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[13].institutions[1].country_code | FR |
| authorships[13].institutions[1].display_name | Inserm |
| authorships[13].institutions[2].id | https://openalex.org/I15057530 |
| authorships[13].institutions[2].ror | https://ror.org/057qpr032 |
| authorships[13].institutions[2].type | education |
| authorships[13].institutions[2].lineage | https://openalex.org/I15057530 |
| authorships[13].institutions[2].country_code | FR |
| authorships[13].institutions[2].display_name | Université de Bordeaux |
| authorships[13].author_position | middle |
| authorships[13].raw_author_name | Vincent Michaud |
| authorships[13].is_corresponding | False |
| authorships[13].raw_affiliation_strings | INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France, Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France |
| authorships[14].author.id | https://openalex.org/A5012306919 |
| authorships[14].author.orcid | https://orcid.org/0000-0002-2987-2932 |
| authorships[14].author.display_name | Benoı̂t Arveiler |
| authorships[14].countries | FR |
| authorships[14].affiliations[0].institution_ids | https://openalex.org/I15057530, https://openalex.org/I154526488 |
| authorships[14].affiliations[0].raw_affiliation_string | INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France |
| authorships[14].affiliations[1].institution_ids | https://openalex.org/I3018323443 |
| authorships[14].affiliations[1].raw_affiliation_string | Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France |
| authorships[14].institutions[0].id | https://openalex.org/I3018323443 |
| authorships[14].institutions[0].ror | https://ror.org/01hq89f96 |
| authorships[14].institutions[0].type | healthcare |
| authorships[14].institutions[0].lineage | https://openalex.org/I3018323443 |
| authorships[14].institutions[0].country_code | FR |
| authorships[14].institutions[0].display_name | Centre Hospitalier Universitaire de Bordeaux |
| authorships[14].institutions[1].id | https://openalex.org/I154526488 |
| authorships[14].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[14].institutions[1].type | government |
| authorships[14].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[14].institutions[1].country_code | FR |
| authorships[14].institutions[1].display_name | Inserm |
| authorships[14].institutions[2].id | https://openalex.org/I15057530 |
| authorships[14].institutions[2].ror | https://ror.org/057qpr032 |
| authorships[14].institutions[2].type | education |
| authorships[14].institutions[2].lineage | https://openalex.org/I15057530 |
| authorships[14].institutions[2].country_code | FR |
| authorships[14].institutions[2].display_name | Université de Bordeaux |
| authorships[14].author_position | middle |
| authorships[14].raw_author_name | Benoit Arveiler |
| authorships[14].is_corresponding | False |
| authorships[14].raw_affiliation_strings | INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France, Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France |
| authorships[15].author.id | https://openalex.org/A5054224038 |
| authorships[15].author.orcid | https://orcid.org/0000-0002-3457-5684 |
| authorships[15].author.display_name | Aurélien Trimouille |
| authorships[15].countries | FR |
| authorships[15].affiliations[0].institution_ids | https://openalex.org/I15057530, https://openalex.org/I154526488 |
| authorships[15].affiliations[0].raw_affiliation_string | INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France |
| authorships[15].affiliations[1].institution_ids | https://openalex.org/I3018323443 |
| authorships[15].affiliations[1].raw_affiliation_string | Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France |
| authorships[15].institutions[0].id | https://openalex.org/I3018323443 |
| authorships[15].institutions[0].ror | https://ror.org/01hq89f96 |
| authorships[15].institutions[0].type | healthcare |
| authorships[15].institutions[0].lineage | https://openalex.org/I3018323443 |
| authorships[15].institutions[0].country_code | FR |
| authorships[15].institutions[0].display_name | Centre Hospitalier Universitaire de Bordeaux |
| authorships[15].institutions[1].id | https://openalex.org/I154526488 |
| authorships[15].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[15].institutions[1].type | government |
| authorships[15].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[15].institutions[1].country_code | FR |
| authorships[15].institutions[1].display_name | Inserm |
| authorships[15].institutions[2].id | https://openalex.org/I15057530 |
| authorships[15].institutions[2].ror | https://ror.org/057qpr032 |
| authorships[15].institutions[2].type | education |
| authorships[15].institutions[2].lineage | https://openalex.org/I15057530 |
| authorships[15].institutions[2].country_code | FR |
| authorships[15].institutions[2].display_name | Université de Bordeaux |
| authorships[15].author_position | middle |
| authorships[15].raw_author_name | Aurélien Trimouille |
| authorships[15].is_corresponding | False |
| authorships[15].raw_affiliation_strings | INSERM U1211, Maladies Rares, Génétique et Métabolisme, Université de Bordeaux, Bordeaux, France, Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France |
| authorships[16].author.id | https://openalex.org/A5088999785 |
| authorships[16].author.orcid | https://orcid.org/0000-0003-3462-1975 |
| authorships[16].author.display_name | Pierre Macé |
| authorships[16].countries | FR |
| authorships[16].affiliations[0].institution_ids | https://openalex.org/I4210090001 |
| authorships[16].affiliations[0].raw_affiliation_string | Institut méditerranéen d'imagerie médicale appliquée à la gynécologie, la grossesse et l'enfance IMAGE2, Marseille, France |
| authorships[16].institutions[0].id | https://openalex.org/I4210090001 |
| authorships[16].institutions[0].ror | https://ror.org/009ay5m23 |
| authorships[16].institutions[0].type | government |
| authorships[16].institutions[0].lineage | https://openalex.org/I102197404, https://openalex.org/I1294671590, https://openalex.org/I2738703131, https://openalex.org/I4210090001, https://openalex.org/I4210096427, https://openalex.org/I4210102665 |
| authorships[16].institutions[0].country_code | FR |
| authorships[16].institutions[0].display_name | Institut d'Imagerie Biomédicale |
| authorships[16].author_position | middle |
| authorships[16].raw_author_name | Pierre Macé |
| authorships[16].is_corresponding | False |
| authorships[16].raw_affiliation_strings | Institut méditerranéen d'imagerie médicale appliquée à la gynécologie, la grossesse et l'enfance IMAGE2, Marseille, France |
| authorships[17].author.id | https://openalex.org/A5030858407 |
| authorships[17].author.orcid | |
| authorships[17].author.display_name | Sabine Sigaudy |
| authorships[17].countries | FR |
| authorships[17].affiliations[0].institution_ids | https://openalex.org/I4210162909 |
| authorships[17].affiliations[0].raw_affiliation_string | Département de Génétique Médicale, Hôpital Timone Enfant, AP-HM, Marseille, France |
| authorships[17].institutions[0].id | https://openalex.org/I4210162909 |
| authorships[17].institutions[0].ror | https://ror.org/05jrr4320 |
| authorships[17].institutions[0].type | healthcare |
| authorships[17].institutions[0].lineage | https://openalex.org/I4210087487, https://openalex.org/I4210162909 |
| authorships[17].institutions[0].country_code | FR |
| authorships[17].institutions[0].display_name | Hôpital de la Timone |
| authorships[17].author_position | middle |
| authorships[17].raw_author_name | Sabine Sigaudy |
| authorships[17].is_corresponding | False |
| authorships[17].raw_affiliation_strings | Département de Génétique Médicale, Hôpital Timone Enfant, AP-HM, Marseille, France |
| authorships[18].author.id | https://openalex.org/A5058955838 |
| authorships[18].author.orcid | |
| authorships[18].author.display_name | Olga O. Glazunova |
| authorships[18].countries | FR |
| authorships[18].affiliations[0].institution_ids | https://openalex.org/I4210162909 |
| authorships[18].affiliations[0].raw_affiliation_string | Département de Génétique Médicale, Hôpital Timone Enfant, AP-HM, Marseille, France |
| authorships[18].institutions[0].id | https://openalex.org/I4210162909 |
| authorships[18].institutions[0].ror | https://ror.org/05jrr4320 |
| authorships[18].institutions[0].type | healthcare |
| authorships[18].institutions[0].lineage | https://openalex.org/I4210087487, https://openalex.org/I4210162909 |
| authorships[18].institutions[0].country_code | FR |
| authorships[18].institutions[0].display_name | Hôpital de la Timone |
| authorships[18].author_position | middle |
| authorships[18].raw_author_name | Olga Glazunova |
| authorships[18].is_corresponding | False |
| authorships[18].raw_affiliation_strings | Département de Génétique Médicale, Hôpital Timone Enfant, AP-HM, Marseille, France |
| authorships[19].author.id | https://openalex.org/A5008790776 |
| authorships[19].author.orcid | |
| authorships[19].author.display_name | Julia Torrents |
| authorships[19].countries | FR |
| authorships[19].affiliations[0].institution_ids | https://openalex.org/I21491767 |
| authorships[19].affiliations[0].raw_affiliation_string | Department of Pathology and Neuropathology, La Timone Hospital, Aix Marseille University, AP-HM, Marseille, France |
| authorships[19].institutions[0].id | https://openalex.org/I21491767 |
| authorships[19].institutions[0].ror | https://ror.org/035xkbk20 |
| authorships[19].institutions[0].type | education |
| authorships[19].institutions[0].lineage | https://openalex.org/I21491767 |
| authorships[19].institutions[0].country_code | FR |
| authorships[19].institutions[0].display_name | Aix-Marseille Université |
| authorships[19].author_position | middle |
| authorships[19].raw_author_name | Julia Torrents |
| authorships[19].is_corresponding | False |
| authorships[19].raw_affiliation_strings | Department of Pathology and Neuropathology, La Timone Hospital, Aix Marseille University, AP-HM, Marseille, France |
| authorships[20].author.id | https://openalex.org/A5049105566 |
| authorships[20].author.orcid | https://orcid.org/0000-0002-6967-0972 |
| authorships[20].author.display_name | Laure Raymond |
| authorships[20].countries | FR |
| authorships[20].affiliations[0].institution_ids | https://openalex.org/I4210155911 |
| authorships[20].affiliations[0].raw_affiliation_string | Genetics Department, Laboratoire Eurofins Biomnis, Lyon, France |
| authorships[20].institutions[0].id | https://openalex.org/I4210155911 |
| authorships[20].institutions[0].ror | https://ror.org/04mdycw91 |
| authorships[20].institutions[0].type | company |
| authorships[20].institutions[0].lineage | https://openalex.org/I4210150086, https://openalex.org/I4210155911 |
| authorships[20].institutions[0].country_code | FR |
| authorships[20].institutions[0].display_name | Eurofins (France) |
| authorships[20].author_position | middle |
| authorships[20].raw_author_name | Laure Raymond |
| authorships[20].is_corresponding | False |
| authorships[20].raw_affiliation_strings | Genetics Department, Laboratoire Eurofins Biomnis, Lyon, France |
| authorships[21].author.id | https://openalex.org/A5076393083 |
| authorships[21].author.orcid | |
| authorships[21].author.display_name | Marie‐Hélène Saint‐Frison |
| authorships[21].countries | FR |
| authorships[21].affiliations[0].institution_ids | https://openalex.org/I4210097159, https://openalex.org/I4210126712 |
| authorships[21].affiliations[0].raw_affiliation_string | Foetopathology Unit, AP-HP Nord, Hôpital Robert Debré, Paris, France |
| authorships[21].institutions[0].id | https://openalex.org/I4210097159 |
| authorships[21].institutions[0].ror | https://ror.org/00pg5jh14 |
| authorships[21].institutions[0].type | healthcare |
| authorships[21].institutions[0].lineage | https://openalex.org/I4210097159 |
| authorships[21].institutions[0].country_code | FR |
| authorships[21].institutions[0].display_name | Assistance Publique – Hôpitaux de Paris |
| authorships[21].institutions[1].id | https://openalex.org/I4210126712 |
| authorships[21].institutions[1].ror | https://ror.org/02dcqy320 |
| authorships[21].institutions[1].type | healthcare |
| authorships[21].institutions[1].lineage | https://openalex.org/I4210097159, https://openalex.org/I4210126712 |
| authorships[21].institutions[1].country_code | FR |
| authorships[21].institutions[1].display_name | Hôpital Robert-Debré |
| authorships[21].author_position | middle |
| authorships[21].raw_author_name | Marie-Hélène Saint-Frison |
| authorships[21].is_corresponding | False |
| authorships[21].raw_affiliation_strings | Foetopathology Unit, AP-HP Nord, Hôpital Robert Debré, Paris, France |
| authorships[22].author.id | https://openalex.org/A5001445148 |
| authorships[22].author.orcid | https://orcid.org/0000-0002-1155-3626 |
| authorships[22].author.display_name | Tania Attié‐Bitach |
| authorships[22].countries | FR |
| authorships[22].affiliations[0].institution_ids | https://openalex.org/I154526488, https://openalex.org/I204730241, https://openalex.org/I4210165077 |
| authorships[22].affiliations[0].raw_affiliation_string | INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France |
| authorships[22].affiliations[1].institution_ids | https://openalex.org/I1288880153, https://openalex.org/I4210097159 |
| authorships[22].affiliations[1].raw_affiliation_string | Service de Médecine Génomique des Maladies Rares, Hopital Universitaire Necker-Enfants Malades, AP-HP, Paris, France |
| authorships[22].institutions[0].id | https://openalex.org/I4210097159 |
| authorships[22].institutions[0].ror | https://ror.org/00pg5jh14 |
| authorships[22].institutions[0].type | healthcare |
| authorships[22].institutions[0].lineage | https://openalex.org/I4210097159 |
| authorships[22].institutions[0].country_code | FR |
| authorships[22].institutions[0].display_name | Assistance Publique – Hôpitaux de Paris |
| authorships[22].institutions[1].id | https://openalex.org/I1288880153 |
| authorships[22].institutions[1].ror | https://ror.org/05tr67282 |
| authorships[22].institutions[1].type | healthcare |
| authorships[22].institutions[1].lineage | https://openalex.org/I1288880153, https://openalex.org/I4210097159, https://openalex.org/I4210120235 |
| authorships[22].institutions[1].country_code | FR |
| authorships[22].institutions[1].display_name | Hôpital Necker-Enfants Malades |
| authorships[22].institutions[2].id | https://openalex.org/I154526488 |
| authorships[22].institutions[2].ror | https://ror.org/02vjkv261 |
| authorships[22].institutions[2].type | government |
| authorships[22].institutions[2].lineage | https://openalex.org/I154526488 |
| authorships[22].institutions[2].country_code | FR |
| authorships[22].institutions[2].display_name | Inserm |
| authorships[22].institutions[3].id | https://openalex.org/I4210165077 |
| authorships[22].institutions[3].ror | https://ror.org/05rq3rb55 |
| authorships[22].institutions[3].type | facility |
| authorships[22].institutions[3].lineage | https://openalex.org/I154526488, https://openalex.org/I204730241, https://openalex.org/I4210100892, https://openalex.org/I4210165077 |
| authorships[22].institutions[3].country_code | FR |
| authorships[22].institutions[3].display_name | Institut des Maladies Génétiques Imagine |
| authorships[22].institutions[4].id | https://openalex.org/I204730241 |
| authorships[22].institutions[4].ror | https://ror.org/05f82e368 |
| authorships[22].institutions[4].type | education |
| authorships[22].institutions[4].lineage | https://openalex.org/I204730241 |
| authorships[22].institutions[4].country_code | FR |
| authorships[22].institutions[4].display_name | Université Paris Cité |
| authorships[22].author_position | middle |
| authorships[22].raw_author_name | Tania Attié-Bitach |
| authorships[22].is_corresponding | False |
| authorships[22].raw_affiliation_strings | INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France, Service de Médecine Génomique des Maladies Rares, Hopital Universitaire Necker-Enfants Malades, AP-HP, Paris, France |
| authorships[23].author.id | https://openalex.org/A5032036144 |
| authorships[23].author.orcid | https://orcid.org/0000-0002-9102-6884 |
| authorships[23].author.display_name | Mathilde Lefebvre |
| authorships[23].countries | FR |
| authorships[23].affiliations[0].institution_ids | https://openalex.org/I39804081, https://openalex.org/I4210086685, https://openalex.org/I4210097159 |
| authorships[23].affiliations[0].raw_affiliation_string | Service de Pathologie fœtale, Hôpital Universitaire Armand Trousseau, AP-HP, Paris, France |
| authorships[23].institutions[0].id | https://openalex.org/I4210097159 |
| authorships[23].institutions[0].ror | https://ror.org/00pg5jh14 |
| authorships[23].institutions[0].type | healthcare |
| authorships[23].institutions[0].lineage | https://openalex.org/I4210097159 |
| authorships[23].institutions[0].country_code | FR |
| authorships[23].institutions[0].display_name | Assistance Publique – Hôpitaux de Paris |
| authorships[23].institutions[1].id | https://openalex.org/I4210086685 |
| authorships[23].institutions[1].ror | https://ror.org/00yfbr841 |
| authorships[23].institutions[1].type | healthcare |
| authorships[23].institutions[1].lineage | https://openalex.org/I4210086685, https://openalex.org/I4210097159 |
| authorships[23].institutions[1].country_code | FR |
| authorships[23].institutions[1].display_name | Hôpital Armand-Trousseau |
| authorships[23].institutions[2].id | https://openalex.org/I39804081 |
| authorships[23].institutions[2].ror | https://ror.org/02en5vm52 |
| authorships[23].institutions[2].type | education |
| authorships[23].institutions[2].lineage | https://openalex.org/I39804081 |
| authorships[23].institutions[2].country_code | FR |
| authorships[23].institutions[2].display_name | Sorbonne Université |
| authorships[23].author_position | middle |
| authorships[23].raw_author_name | Mathilde Lefebvre |
| authorships[23].is_corresponding | False |
| authorships[23].raw_affiliation_strings | Service de Pathologie fœtale, Hôpital Universitaire Armand Trousseau, AP-HP, Paris, France |
| authorships[24].author.id | https://openalex.org/A5082289786 |
| authorships[24].author.orcid | https://orcid.org/0000-0002-6269-5966 |
| authorships[24].author.display_name | Yline Capri |
| authorships[24].countries | FR |
| authorships[24].affiliations[0].institution_ids | https://openalex.org/I4210097159, https://openalex.org/I4210126712 |
| authorships[24].affiliations[0].raw_affiliation_string | Département de Génétique, Hôpital Robert Debré, AP-HP, Paris, France |
| authorships[24].institutions[0].id | https://openalex.org/I4210097159 |
| authorships[24].institutions[0].ror | https://ror.org/00pg5jh14 |
| authorships[24].institutions[0].type | healthcare |
| authorships[24].institutions[0].lineage | https://openalex.org/I4210097159 |
| authorships[24].institutions[0].country_code | FR |
| authorships[24].institutions[0].display_name | Assistance Publique – Hôpitaux de Paris |
| authorships[24].institutions[1].id | https://openalex.org/I4210126712 |
| authorships[24].institutions[1].ror | https://ror.org/02dcqy320 |
| authorships[24].institutions[1].type | healthcare |
| authorships[24].institutions[1].lineage | https://openalex.org/I4210097159, https://openalex.org/I4210126712 |
| authorships[24].institutions[1].country_code | FR |
| authorships[24].institutions[1].display_name | Hôpital Robert-Debré |
| authorships[24].author_position | middle |
| authorships[24].raw_author_name | Yline Capri |
| authorships[24].is_corresponding | False |
| authorships[24].raw_affiliation_strings | Département de Génétique, Hôpital Robert Debré, AP-HP, Paris, France |
| authorships[25].author.id | https://openalex.org/A5073331682 |
| authorships[25].author.orcid | https://orcid.org/0000-0003-3093-4085 |
| authorships[25].author.display_name | Nicolas Bourgon |
| authorships[25].countries | FR |
| authorships[25].affiliations[0].institution_ids | https://openalex.org/I154526488 |
| authorships[25].affiliations[0].raw_affiliation_string | UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France |
| authorships[25].affiliations[1].institution_ids | https://openalex.org/I1288880153, https://openalex.org/I4210097159 |
| authorships[25].affiliations[1].raw_affiliation_string | Service d'Obstétrique-Maternité Chirurgie, Médecine et Imagerie foetales, AP-HP, Hopital Universitaire Necker-Enfants Malades, Paris, France |
| authorships[25].institutions[0].id | https://openalex.org/I4210097159 |
| authorships[25].institutions[0].ror | https://ror.org/00pg5jh14 |
| authorships[25].institutions[0].type | healthcare |
| authorships[25].institutions[0].lineage | https://openalex.org/I4210097159 |
| authorships[25].institutions[0].country_code | FR |
| authorships[25].institutions[0].display_name | Assistance Publique – Hôpitaux de Paris |
| authorships[25].institutions[1].id | https://openalex.org/I1288880153 |
| authorships[25].institutions[1].ror | https://ror.org/05tr67282 |
| authorships[25].institutions[1].type | healthcare |
| authorships[25].institutions[1].lineage | https://openalex.org/I1288880153, https://openalex.org/I4210097159, https://openalex.org/I4210120235 |
| authorships[25].institutions[1].country_code | FR |
| authorships[25].institutions[1].display_name | Hôpital Necker-Enfants Malades |
| authorships[25].institutions[2].id | https://openalex.org/I154526488 |
| authorships[25].institutions[2].ror | https://ror.org/02vjkv261 |
| authorships[25].institutions[2].type | government |
| authorships[25].institutions[2].lineage | https://openalex.org/I154526488 |
| authorships[25].institutions[2].country_code | FR |
| authorships[25].institutions[2].display_name | Inserm |
| authorships[25].institutions[3].id | https://openalex.org/I4210118524 |
| authorships[25].institutions[3].ror | https://ror.org/02dn7x778 |
| authorships[25].institutions[3].type | education |
| authorships[25].institutions[3].lineage | https://openalex.org/I4210118524 |
| authorships[25].institutions[3].country_code | FR |
| authorships[25].institutions[3].display_name | Université Bourgogne Franche-Comté |
| authorships[25].author_position | middle |
| authorships[25].raw_author_name | Nicolas Bourgon |
| authorships[25].is_corresponding | False |
| authorships[25].raw_affiliation_strings | Service d'Obstétrique-Maternité Chirurgie, Médecine et Imagerie foetales, AP-HP, Hopital Universitaire Necker-Enfants Malades, Paris, France, UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France |
| authorships[26].author.id | https://openalex.org/A5012156827 |
| authorships[26].author.orcid | https://orcid.org/0000-0002-4155-139X |
| authorships[26].author.display_name | Christel Thauvin‐Robinet |
| authorships[26].countries | FR |
| authorships[26].affiliations[0].institution_ids | https://openalex.org/I154526488 |
| authorships[26].affiliations[0].raw_affiliation_string | UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France |
| authorships[26].affiliations[1].institution_ids | https://openalex.org/I4210105451, https://openalex.org/I4210116240 |
| authorships[26].affiliations[1].raw_affiliation_string | Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, Dijon, France |
| authorships[26].affiliations[2].raw_affiliation_string | Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France |
| authorships[26].institutions[0].id | https://openalex.org/I4210116240 |
| authorships[26].institutions[0].ror | https://ror.org/0377z4z10 |
| authorships[26].institutions[0].type | healthcare |
| authorships[26].institutions[0].lineage | https://openalex.org/I4210116240 |
| authorships[26].institutions[0].country_code | FR |
| authorships[26].institutions[0].display_name | CHU Dijon Bourgogne |
| authorships[26].institutions[1].id | https://openalex.org/I4210105451 |
| authorships[26].institutions[1].ror | https://ror.org/00yyw0g86 |
| authorships[26].institutions[1].type | other |
| authorships[26].institutions[1].lineage | https://openalex.org/I4210105451 |
| authorships[26].institutions[1].country_code | FR |
| authorships[26].institutions[1].display_name | Fédération Hospitalo-Universitaire, Paris Center for Microbiome Medicine |
| authorships[26].institutions[2].id | https://openalex.org/I154526488 |
| authorships[26].institutions[2].ror | https://ror.org/02vjkv261 |
| authorships[26].institutions[2].type | government |
| authorships[26].institutions[2].lineage | https://openalex.org/I154526488 |
| authorships[26].institutions[2].country_code | FR |
| authorships[26].institutions[2].display_name | Inserm |
| authorships[26].institutions[3].id | https://openalex.org/I4210118524 |
| authorships[26].institutions[3].ror | https://ror.org/02dn7x778 |
| authorships[26].institutions[3].type | education |
| authorships[26].institutions[3].lineage | https://openalex.org/I4210118524 |
| authorships[26].institutions[3].country_code | FR |
| authorships[26].institutions[3].display_name | Université Bourgogne Franche-Comté |
| authorships[26].author_position | middle |
| authorships[26].raw_author_name | Christel Thauvin-Robinet |
| authorships[26].is_corresponding | False |
| authorships[26].raw_affiliation_strings | Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, Dijon, France, UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France, Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France |
| authorships[27].author.id | https://openalex.org/A5015544345 |
| authorships[27].author.orcid | https://orcid.org/0000-0002-3795-9456 |
| authorships[27].author.display_name | Frédéric Tran Mau‐Them |
| authorships[27].countries | FR |
| authorships[27].affiliations[0].raw_affiliation_string | Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France |
| authorships[27].affiliations[1].institution_ids | https://openalex.org/I154526488 |
| authorships[27].affiliations[1].raw_affiliation_string | UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France |
| authorships[27].institutions[0].id | https://openalex.org/I154526488 |
| authorships[27].institutions[0].ror | https://ror.org/02vjkv261 |
| authorships[27].institutions[0].type | government |
| authorships[27].institutions[0].lineage | https://openalex.org/I154526488 |
| authorships[27].institutions[0].country_code | FR |
| authorships[27].institutions[0].display_name | Inserm |
| authorships[27].institutions[1].id | https://openalex.org/I4210118524 |
| authorships[27].institutions[1].ror | https://ror.org/02dn7x778 |
| authorships[27].institutions[1].type | education |
| authorships[27].institutions[1].lineage | https://openalex.org/I4210118524 |
| authorships[27].institutions[1].country_code | FR |
| authorships[27].institutions[1].display_name | Université Bourgogne Franche-Comté |
| authorships[27].author_position | middle |
| authorships[27].raw_author_name | Frédéric Tran Mau-Them |
| authorships[27].is_corresponding | False |
| authorships[27].raw_affiliation_strings | UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France, Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France |
| authorships[28].author.id | https://openalex.org/A5061394090 |
| authorships[28].author.orcid | https://orcid.org/0000-0002-0526-465X |
| authorships[28].author.display_name | Ange‐Line Bruel |
| authorships[28].countries | FR |
| authorships[28].affiliations[0].raw_affiliation_string | Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France |
| authorships[28].affiliations[1].institution_ids | https://openalex.org/I154526488 |
| authorships[28].affiliations[1].raw_affiliation_string | UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France |
| authorships[28].institutions[0].id | https://openalex.org/I154526488 |
| authorships[28].institutions[0].ror | https://ror.org/02vjkv261 |
| authorships[28].institutions[0].type | government |
| authorships[28].institutions[0].lineage | https://openalex.org/I154526488 |
| authorships[28].institutions[0].country_code | FR |
| authorships[28].institutions[0].display_name | Inserm |
| authorships[28].institutions[1].id | https://openalex.org/I4210118524 |
| authorships[28].institutions[1].ror | https://ror.org/02dn7x778 |
| authorships[28].institutions[1].type | education |
| authorships[28].institutions[1].lineage | https://openalex.org/I4210118524 |
| authorships[28].institutions[1].country_code | FR |
| authorships[28].institutions[1].display_name | Université Bourgogne Franche-Comté |
| authorships[28].author_position | middle |
| authorships[28].raw_author_name | Ange-Line Bruel |
| authorships[28].is_corresponding | False |
| authorships[28].raw_affiliation_strings | UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France, Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France |
| authorships[29].author.id | https://openalex.org/A5059739660 |
| authorships[29].author.orcid | https://orcid.org/0000-0003-3717-8374 |
| authorships[29].author.display_name | Antonio Vitobello |
| authorships[29].countries | FR |
| authorships[29].affiliations[0].raw_affiliation_string | Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France |
| authorships[29].affiliations[1].institution_ids | https://openalex.org/I154526488 |
| authorships[29].affiliations[1].raw_affiliation_string | UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France |
| authorships[29].institutions[0].id | https://openalex.org/I154526488 |
| authorships[29].institutions[0].ror | https://ror.org/02vjkv261 |
| authorships[29].institutions[0].type | government |
| authorships[29].institutions[0].lineage | https://openalex.org/I154526488 |
| authorships[29].institutions[0].country_code | FR |
| authorships[29].institutions[0].display_name | Inserm |
| authorships[29].institutions[1].id | https://openalex.org/I4210118524 |
| authorships[29].institutions[1].ror | https://ror.org/02dn7x778 |
| authorships[29].institutions[1].type | education |
| authorships[29].institutions[1].lineage | https://openalex.org/I4210118524 |
| authorships[29].institutions[1].country_code | FR |
| authorships[29].institutions[1].display_name | Université Bourgogne Franche-Comté |
| authorships[29].author_position | middle |
| authorships[29].raw_author_name | Antonio Vitobello |
| authorships[29].is_corresponding | False |
| authorships[29].raw_affiliation_strings | UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France, Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France |
| authorships[30].author.id | https://openalex.org/A5077874217 |
| authorships[30].author.orcid | https://orcid.org/0000-0002-8986-8222 |
| authorships[30].author.display_name | Anne‐Sophie Denommé‐Pichon |
| authorships[30].countries | FR |
| authorships[30].affiliations[0].institution_ids | https://openalex.org/I154526488 |
| authorships[30].affiliations[0].raw_affiliation_string | UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France |
| authorships[30].affiliations[1].raw_affiliation_string | Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France |
| authorships[30].institutions[0].id | https://openalex.org/I154526488 |
| authorships[30].institutions[0].ror | https://ror.org/02vjkv261 |
| authorships[30].institutions[0].type | government |
| authorships[30].institutions[0].lineage | https://openalex.org/I154526488 |
| authorships[30].institutions[0].country_code | FR |
| authorships[30].institutions[0].display_name | Inserm |
| authorships[30].institutions[1].id | https://openalex.org/I4210118524 |
| authorships[30].institutions[1].ror | https://ror.org/02dn7x778 |
| authorships[30].institutions[1].type | education |
| authorships[30].institutions[1].lineage | https://openalex.org/I4210118524 |
| authorships[30].institutions[1].country_code | FR |
| authorships[30].institutions[1].display_name | Université Bourgogne Franche-Comté |
| authorships[30].author_position | middle |
| authorships[30].raw_author_name | Anne-Sophie Denommé-Pichon |
| authorships[30].is_corresponding | False |
| authorships[30].raw_affiliation_strings | UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France, Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon, Dijon, France |
| authorships[31].author.id | https://openalex.org/A5024331920 |
| authorships[31].author.orcid | https://orcid.org/0000-0001-9770-444X |
| authorships[31].author.display_name | Laurence Faivre |
| authorships[31].countries | FR |
| authorships[31].affiliations[0].institution_ids | https://openalex.org/I154526488 |
| authorships[31].affiliations[0].raw_affiliation_string | UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France |
| authorships[31].affiliations[1].institution_ids | https://openalex.org/I4210105451, https://openalex.org/I4210116240 |
| authorships[31].affiliations[1].raw_affiliation_string | Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, Dijon, France |
| authorships[31].institutions[0].id | https://openalex.org/I4210116240 |
| authorships[31].institutions[0].ror | https://ror.org/0377z4z10 |
| authorships[31].institutions[0].type | healthcare |
| authorships[31].institutions[0].lineage | https://openalex.org/I4210116240 |
| authorships[31].institutions[0].country_code | FR |
| authorships[31].institutions[0].display_name | CHU Dijon Bourgogne |
| authorships[31].institutions[1].id | https://openalex.org/I4210105451 |
| authorships[31].institutions[1].ror | https://ror.org/00yyw0g86 |
| authorships[31].institutions[1].type | other |
| authorships[31].institutions[1].lineage | https://openalex.org/I4210105451 |
| authorships[31].institutions[1].country_code | FR |
| authorships[31].institutions[1].display_name | Fédération Hospitalo-Universitaire, Paris Center for Microbiome Medicine |
| authorships[31].institutions[2].id | https://openalex.org/I154526488 |
| authorships[31].institutions[2].ror | https://ror.org/02vjkv261 |
| authorships[31].institutions[2].type | government |
| authorships[31].institutions[2].lineage | https://openalex.org/I154526488 |
| authorships[31].institutions[2].country_code | FR |
| authorships[31].institutions[2].display_name | Inserm |
| authorships[31].institutions[3].id | https://openalex.org/I4210118524 |
| authorships[31].institutions[3].ror | https://ror.org/02dn7x778 |
| authorships[31].institutions[3].type | education |
| authorships[31].institutions[3].lineage | https://openalex.org/I4210118524 |
| authorships[31].institutions[3].country_code | FR |
| authorships[31].institutions[3].display_name | Université Bourgogne Franche-Comté |
| authorships[31].author_position | middle |
| authorships[31].raw_author_name | Laurence Faivre |
| authorships[31].is_corresponding | False |
| authorships[31].raw_affiliation_strings | Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, Dijon, France, UMR1231 GAD, INSERM, Université Bourgogne Franche-Comté, Dijon, France |
| authorships[32].author.id | https://openalex.org/A5048777082 |
| authorships[32].author.orcid | |
| authorships[32].author.display_name | Anne‐Claire Bréhin |
| authorships[32].countries | FR |
| authorships[32].affiliations[0].institution_ids | https://openalex.org/I154526488, https://openalex.org/I62396329 |
| authorships[32].affiliations[0].raw_affiliation_string | Inserm U1245, Université de Rouen Normandie, Rouen, France |
| authorships[32].affiliations[1].institution_ids | https://openalex.org/I62396329 |
| authorships[32].affiliations[1].raw_affiliation_string | Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, F-76000, CHU de Rouen, Rouen, France |
| authorships[32].institutions[0].id | https://openalex.org/I154526488 |
| authorships[32].institutions[0].ror | https://ror.org/02vjkv261 |
| authorships[32].institutions[0].type | government |
| authorships[32].institutions[0].lineage | https://openalex.org/I154526488 |
| authorships[32].institutions[0].country_code | FR |
| authorships[32].institutions[0].display_name | Inserm |
| authorships[32].institutions[1].id | https://openalex.org/I62396329 |
| authorships[32].institutions[1].ror | https://ror.org/03nhjew95 |
| authorships[32].institutions[1].type | education |
| authorships[32].institutions[1].lineage | https://openalex.org/I4210105918, https://openalex.org/I62396329 |
| authorships[32].institutions[1].country_code | FR |
| authorships[32].institutions[1].display_name | Université de Rouen Normandie |
| authorships[32].author_position | middle |
| authorships[32].raw_author_name | Anne-Claire Brehin |
| authorships[32].is_corresponding | False |
| authorships[32].raw_affiliation_strings | Department of Pathology, Department of Genetics and Reference Center for Developmental Abnormalities, F-76000, CHU de Rouen, Rouen, France, Inserm U1245, Université de Rouen Normandie, Rouen, France |
| authorships[33].author.id | https://openalex.org/A5016342397 |
| authorships[33].author.orcid | https://orcid.org/0000-0002-5864-9182 |
| authorships[33].author.display_name | Alice Goldenberg |
| authorships[33].countries | FR |
| authorships[33].affiliations[0].institution_ids | https://openalex.org/I62396329 |
| authorships[33].affiliations[0].raw_affiliation_string | Department of Genetics and Reference Center for Developmental Abnormalities, F-76000, CHU de Rouen, Rouen, France |
| authorships[33].affiliations[1].institution_ids | https://openalex.org/I154526488, https://openalex.org/I62396329 |
| authorships[33].affiliations[1].raw_affiliation_string | Inserm U1245, Université de Rouen Normandie, Rouen, France |
| authorships[33].institutions[0].id | https://openalex.org/I154526488 |
| authorships[33].institutions[0].ror | https://ror.org/02vjkv261 |
| authorships[33].institutions[0].type | government |
| authorships[33].institutions[0].lineage | https://openalex.org/I154526488 |
| authorships[33].institutions[0].country_code | FR |
| authorships[33].institutions[0].display_name | Inserm |
| authorships[33].institutions[1].id | https://openalex.org/I62396329 |
| authorships[33].institutions[1].ror | https://ror.org/03nhjew95 |
| authorships[33].institutions[1].type | education |
| authorships[33].institutions[1].lineage | https://openalex.org/I4210105918, https://openalex.org/I62396329 |
| authorships[33].institutions[1].country_code | FR |
| authorships[33].institutions[1].display_name | Université de Rouen Normandie |
| authorships[33].author_position | middle |
| authorships[33].raw_author_name | Alice Goldenberg |
| authorships[33].is_corresponding | False |
| authorships[33].raw_affiliation_strings | Department of Genetics and Reference Center for Developmental Abnormalities, F-76000, CHU de Rouen, Rouen, France, Inserm U1245, Université de Rouen Normandie, Rouen, France |
| authorships[34].author.id | https://openalex.org/A5082460211 |
| authorships[34].author.orcid | |
| authorships[34].author.display_name | Sophie Patrier-Sallebert |
| authorships[34].countries | FR |
| authorships[34].affiliations[0].institution_ids | https://openalex.org/I4210154623, https://openalex.org/I62396329 |
| authorships[34].affiliations[0].raw_affiliation_string | Service de Fœtopathologie, CHU de Rouen, Rouen, France |
| authorships[34].institutions[0].id | https://openalex.org/I4210154623 |
| authorships[34].institutions[0].ror | https://ror.org/04cdk4t75 |
| authorships[34].institutions[0].type | healthcare |
| authorships[34].institutions[0].lineage | https://openalex.org/I4210154623 |
| authorships[34].institutions[0].country_code | FR |
| authorships[34].institutions[0].display_name | Centre Hospitalier Universitaire de Rouen |
| authorships[34].institutions[1].id | https://openalex.org/I62396329 |
| authorships[34].institutions[1].ror | https://ror.org/03nhjew95 |
| authorships[34].institutions[1].type | education |
| authorships[34].institutions[1].lineage | https://openalex.org/I4210105918, https://openalex.org/I62396329 |
| authorships[34].institutions[1].country_code | FR |
| authorships[34].institutions[1].display_name | Université de Rouen Normandie |
| authorships[34].author_position | middle |
| authorships[34].raw_author_name | Sophie Patrier-Sallebert |
| authorships[34].is_corresponding | False |
| authorships[34].raw_affiliation_strings | Service de Fœtopathologie, CHU de Rouen, Rouen, France |
| authorships[35].author.id | https://openalex.org/A5027434935 |
| authorships[35].author.orcid | https://orcid.org/0000-0002-5906-512X |
| authorships[35].author.display_name | Alexandre Perani |
| authorships[35].countries | FR |
| authorships[35].affiliations[0].institution_ids | https://openalex.org/I4210134125 |
| authorships[35].affiliations[0].raw_affiliation_string | Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France |
| authorships[35].institutions[0].id | https://openalex.org/I4210134125 |
| authorships[35].institutions[0].ror | https://ror.org/03navsr28 |
| authorships[35].institutions[0].type | healthcare |
| authorships[35].institutions[0].lineage | https://openalex.org/I3019204325, https://openalex.org/I4210134125 |
| authorships[35].institutions[0].country_code | FR |
| authorships[35].institutions[0].display_name | Hôpital Mère-Enfant |
| authorships[35].author_position | middle |
| authorships[35].raw_author_name | Alexandre Perani |
| authorships[35].is_corresponding | False |
| authorships[35].raw_affiliation_strings | Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France |
| authorships[36].author.id | https://openalex.org/A5015505077 |
| authorships[36].author.orcid | |
| authorships[36].author.display_name | Benjamin Dauriat |
| authorships[36].countries | FR |
| authorships[36].affiliations[0].institution_ids | https://openalex.org/I4210134125 |
| authorships[36].affiliations[0].raw_affiliation_string | Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France |
| authorships[36].institutions[0].id | https://openalex.org/I4210134125 |
| authorships[36].institutions[0].ror | https://ror.org/03navsr28 |
| authorships[36].institutions[0].type | healthcare |
| authorships[36].institutions[0].lineage | https://openalex.org/I3019204325, https://openalex.org/I4210134125 |
| authorships[36].institutions[0].country_code | FR |
| authorships[36].institutions[0].display_name | Hôpital Mère-Enfant |
| authorships[36].author_position | middle |
| authorships[36].raw_author_name | Benjamin Dauriat |
| authorships[36].is_corresponding | False |
| authorships[36].raw_affiliation_strings | Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France |
| authorships[37].author.id | https://openalex.org/A5008494483 |
| authorships[37].author.orcid | |
| authorships[37].author.display_name | Sylvie Bourthoumieu |
| authorships[37].countries | FR |
| authorships[37].affiliations[0].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I65806277 |
| authorships[37].affiliations[0].raw_affiliation_string | UMR 7252, CNRS, XLIM, F-87000, Université de Limoges, Limoges, France |
| authorships[37].affiliations[1].institution_ids | https://openalex.org/I4210134125 |
| authorships[37].affiliations[1].raw_affiliation_string | Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France |
| authorships[37].institutions[0].id | https://openalex.org/I1294671590 |
| authorships[37].institutions[0].ror | https://ror.org/02feahw73 |
| authorships[37].institutions[0].type | government |
| authorships[37].institutions[0].lineage | https://openalex.org/I1294671590 |
| authorships[37].institutions[0].country_code | FR |
| authorships[37].institutions[0].display_name | Centre National de la Recherche Scientifique |
| authorships[37].institutions[1].id | https://openalex.org/I4210134125 |
| authorships[37].institutions[1].ror | https://ror.org/03navsr28 |
| authorships[37].institutions[1].type | healthcare |
| authorships[37].institutions[1].lineage | https://openalex.org/I3019204325, https://openalex.org/I4210134125 |
| authorships[37].institutions[1].country_code | FR |
| authorships[37].institutions[1].display_name | Hôpital Mère-Enfant |
| authorships[37].institutions[2].id | https://openalex.org/I65806277 |
| authorships[37].institutions[2].ror | https://ror.org/02cp04407 |
| authorships[37].institutions[2].type | education |
| authorships[37].institutions[2].lineage | https://openalex.org/I65806277 |
| authorships[37].institutions[2].country_code | FR |
| authorships[37].institutions[2].display_name | Université de Limoges |
| authorships[37].author_position | middle |
| authorships[37].raw_author_name | Sylvie Bourthoumieu |
| authorships[37].is_corresponding | False |
| authorships[37].raw_affiliation_strings | Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France, UMR 7252, CNRS, XLIM, F-87000, Université de Limoges, Limoges, France |
| authorships[38].author.id | https://openalex.org/A5034335941 |
| authorships[38].author.orcid | https://orcid.org/0000-0002-0049-3058 |
| authorships[38].author.display_name | Catherine Yardin |
| authorships[38].countries | FR |
| authorships[38].affiliations[0].institution_ids | https://openalex.org/I1294671590, https://openalex.org/I65806277 |
| authorships[38].affiliations[0].raw_affiliation_string | UMR 7252, CNRS, XLIM, F-87000, Université de Limoges, Limoges, France |
| authorships[38].affiliations[1].institution_ids | https://openalex.org/I4210134125 |
| authorships[38].affiliations[1].raw_affiliation_string | Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France |
| authorships[38].institutions[0].id | https://openalex.org/I1294671590 |
| authorships[38].institutions[0].ror | https://ror.org/02feahw73 |
| authorships[38].institutions[0].type | government |
| authorships[38].institutions[0].lineage | https://openalex.org/I1294671590 |
| authorships[38].institutions[0].country_code | FR |
| authorships[38].institutions[0].display_name | Centre National de la Recherche Scientifique |
| authorships[38].institutions[1].id | https://openalex.org/I4210134125 |
| authorships[38].institutions[1].ror | https://ror.org/03navsr28 |
| authorships[38].institutions[1].type | healthcare |
| authorships[38].institutions[1].lineage | https://openalex.org/I3019204325, https://openalex.org/I4210134125 |
| authorships[38].institutions[1].country_code | FR |
| authorships[38].institutions[1].display_name | Hôpital Mère-Enfant |
| authorships[38].institutions[2].id | https://openalex.org/I65806277 |
| authorships[38].institutions[2].ror | https://ror.org/02cp04407 |
| authorships[38].institutions[2].type | education |
| authorships[38].institutions[2].lineage | https://openalex.org/I65806277 |
| authorships[38].institutions[2].country_code | FR |
| authorships[38].institutions[2].display_name | Université de Limoges |
| authorships[38].author_position | middle |
| authorships[38].raw_author_name | Catherine Yardin |
| authorships[38].is_corresponding | False |
| authorships[38].raw_affiliation_strings | Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France, UMR 7252, CNRS, XLIM, F-87000, Université de Limoges, Limoges, France |
| authorships[39].author.id | https://openalex.org/A5061190589 |
| authorships[39].author.orcid | https://orcid.org/0000-0002-5467-3644 |
| authorships[39].author.display_name | Valentine Marquet |
| authorships[39].countries | FR |
| authorships[39].affiliations[0].institution_ids | https://openalex.org/I4210134125 |
| authorships[39].affiliations[0].raw_affiliation_string | Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France |
| authorships[39].institutions[0].id | https://openalex.org/I4210134125 |
| authorships[39].institutions[0].ror | https://ror.org/03navsr28 |
| authorships[39].institutions[0].type | healthcare |
| authorships[39].institutions[0].lineage | https://openalex.org/I3019204325, https://openalex.org/I4210134125 |
| authorships[39].institutions[0].country_code | FR |
| authorships[39].institutions[0].display_name | Hôpital Mère-Enfant |
| authorships[39].author_position | middle |
| authorships[39].raw_author_name | Valentine Marquet |
| authorships[39].is_corresponding | False |
| authorships[39].raw_affiliation_strings | Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France |
| authorships[40].author.id | https://openalex.org/A5099420392 |
| authorships[40].author.orcid | |
| authorships[40].author.display_name | Marion Barnique |
| authorships[40].countries | FR |
| authorships[40].affiliations[0].institution_ids | https://openalex.org/I4210134125 |
| authorships[40].affiliations[0].raw_affiliation_string | Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France |
| authorships[40].institutions[0].id | https://openalex.org/I4210134125 |
| authorships[40].institutions[0].ror | https://ror.org/03navsr28 |
| authorships[40].institutions[0].type | healthcare |
| authorships[40].institutions[0].lineage | https://openalex.org/I3019204325, https://openalex.org/I4210134125 |
| authorships[40].institutions[0].country_code | FR |
| authorships[40].institutions[0].display_name | Hôpital Mère-Enfant |
| authorships[40].author_position | middle |
| authorships[40].raw_author_name | Marion Barnique |
| authorships[40].is_corresponding | False |
| authorships[40].raw_affiliation_strings | Cytogenetic, Medical Genetic and Reproductive Biology Department, Hôpital de la Mère et de l'Enfant, CHU Dupuytren, CHU Limoges, Limoges, France |
| authorships[41].author.id | https://openalex.org/A5065609198 |
| authorships[41].author.orcid | |
| authorships[41].author.display_name | Maryse Fiorenza-Gasq |
| authorships[41].countries | FR |
| authorships[41].affiliations[0].institution_ids | https://openalex.org/I4210118469 |
| authorships[41].affiliations[0].raw_affiliation_string | Department of Gynaecology and Obstetrics, Mother and Children's Hospital, CHU Limoges, Limoges, France |
| authorships[41].institutions[0].id | https://openalex.org/I4210118469 |
| authorships[41].institutions[0].ror | https://ror.org/01tc2d264 |
| authorships[41].institutions[0].type | healthcare |
| authorships[41].institutions[0].lineage | https://openalex.org/I4210118469 |
| authorships[41].institutions[0].country_code | FR |
| authorships[41].institutions[0].display_name | Centre Hospitalier Universitaire de Limoges |
| authorships[41].author_position | middle |
| authorships[41].raw_author_name | Maryse Fiorenza-Gasq |
| authorships[41].is_corresponding | False |
| authorships[41].raw_affiliation_strings | Department of Gynaecology and Obstetrics, Mother and Children's Hospital, CHU Limoges, Limoges, France |
| authorships[42].author.id | https://openalex.org/A5110313330 |
| authorships[42].author.orcid | |
| authorships[42].author.display_name | Isabelle Marey |
| authorships[42].countries | FR |
| authorships[42].affiliations[0].institution_ids | https://openalex.org/I154526488, https://openalex.org/I899635006 |
| authorships[42].affiliations[0].raw_affiliation_string | INSERM U1209, Institute for Advanced Bioscience, Université Grenoble Alpes, Grenoble, France |
| authorships[42].institutions[0].id | https://openalex.org/I154526488 |
| authorships[42].institutions[0].ror | https://ror.org/02vjkv261 |
| authorships[42].institutions[0].type | government |
| authorships[42].institutions[0].lineage | https://openalex.org/I154526488 |
| authorships[42].institutions[0].country_code | FR |
| authorships[42].institutions[0].display_name | Inserm |
| authorships[42].institutions[1].id | https://openalex.org/I899635006 |
| authorships[42].institutions[1].ror | https://ror.org/02rx3b187 |
| authorships[42].institutions[1].type | education |
| authorships[42].institutions[1].lineage | https://openalex.org/I899635006 |
| authorships[42].institutions[1].country_code | FR |
| authorships[42].institutions[1].display_name | Université Grenoble Alpes |
| authorships[42].author_position | middle |
| authorships[42].raw_author_name | Isabelle Marey |
| authorships[42].is_corresponding | False |
| authorships[42].raw_affiliation_strings | INSERM U1209, Institute for Advanced Bioscience, Université Grenoble Alpes, Grenoble, France |
| authorships[43].author.id | https://openalex.org/A5061136820 |
| authorships[43].author.orcid | |
| authorships[43].author.display_name | D. Tournadre |
| authorships[43].countries | FR |
| authorships[43].affiliations[0].institution_ids | https://openalex.org/I2800555055 |
| authorships[43].affiliations[0].raw_affiliation_string | CPDPN de Grenoble, Echographie obstétricale dépistage et diagnostic, CHU Grenoble Alpes, Grenoble, France |
| authorships[43].institutions[0].id | https://openalex.org/I2800555055 |
| authorships[43].institutions[0].ror | https://ror.org/041rhpw39 |
| authorships[43].institutions[0].type | healthcare |
| authorships[43].institutions[0].lineage | https://openalex.org/I2800555055 |
| authorships[43].institutions[0].country_code | FR |
| authorships[43].institutions[0].display_name | Centre Hospitalier Universitaire de Grenoble |
| authorships[43].author_position | middle |
| authorships[43].raw_author_name | Danielle Tournadre |
| authorships[43].is_corresponding | False |
| authorships[43].raw_affiliation_strings | CPDPN de Grenoble, Echographie obstétricale dépistage et diagnostic, CHU Grenoble Alpes, Grenoble, France |
| authorships[44].author.id | https://openalex.org/A5008871774 |
| authorships[44].author.orcid | |
| authorships[44].author.display_name | Raïa Doumit |
| authorships[44].countries | FR |
| authorships[44].affiliations[0].institution_ids | https://openalex.org/I2800555055 |
| authorships[44].affiliations[0].raw_affiliation_string | Service d'Imagerie Pédiatrique, CHU Grenoble Alpes, Grenoble, France |
| authorships[44].institutions[0].id | https://openalex.org/I2800555055 |
| authorships[44].institutions[0].ror | https://ror.org/041rhpw39 |
| authorships[44].institutions[0].type | healthcare |
| authorships[44].institutions[0].lineage | https://openalex.org/I2800555055 |
| authorships[44].institutions[0].country_code | FR |
| authorships[44].institutions[0].display_name | Centre Hospitalier Universitaire de Grenoble |
| authorships[44].author_position | middle |
| authorships[44].raw_author_name | Raïa Doumit |
| authorships[44].is_corresponding | False |
| authorships[44].raw_affiliation_strings | Service d'Imagerie Pédiatrique, CHU Grenoble Alpes, Grenoble, France |
| authorships[45].author.id | https://openalex.org/A5090252682 |
| authorships[45].author.orcid | https://orcid.org/0000-0002-3533-4153 |
| authorships[45].author.display_name | F. Nugues |
| authorships[45].countries | FR |
| authorships[45].affiliations[0].institution_ids | https://openalex.org/I2800555055 |
| authorships[45].affiliations[0].raw_affiliation_string | Service d'Imagerie Pédiatrique, CHU Grenoble Alpes, Grenoble, France |
| authorships[45].institutions[0].id | https://openalex.org/I2800555055 |
| authorships[45].institutions[0].ror | https://ror.org/041rhpw39 |
| authorships[45].institutions[0].type | healthcare |
| authorships[45].institutions[0].lineage | https://openalex.org/I2800555055 |
| authorships[45].institutions[0].country_code | FR |
| authorships[45].institutions[0].display_name | Centre Hospitalier Universitaire de Grenoble |
| authorships[45].author_position | middle |
| authorships[45].raw_author_name | Frédérique Nugues |
| authorships[45].is_corresponding | False |
| authorships[45].raw_affiliation_strings | Service d'Imagerie Pédiatrique, CHU Grenoble Alpes, Grenoble, France |
| authorships[46].author.id | https://openalex.org/A5045014264 |
| authorships[46].author.orcid | https://orcid.org/0000-0003-1231-1562 |
| authorships[46].author.display_name | Tahsin Stefan Barakat |
| authorships[46].countries | NL |
| authorships[46].affiliations[0].institution_ids | https://openalex.org/I2801952686 |
| authorships[46].affiliations[0].raw_affiliation_string | Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands |
| authorships[46].affiliations[1].institution_ids | https://openalex.org/I2801952686 |
| authorships[46].affiliations[1].raw_affiliation_string | ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands |
| authorships[46].affiliations[2].institution_ids | https://openalex.org/I2801952686 |
| authorships[46].affiliations[2].raw_affiliation_string | Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands |
| authorships[46].institutions[0].id | https://openalex.org/I2801952686 |
| authorships[46].institutions[0].ror | https://ror.org/018906e22 |
| authorships[46].institutions[0].type | healthcare |
| authorships[46].institutions[0].lineage | https://openalex.org/I2801952686 |
| authorships[46].institutions[0].country_code | NL |
| authorships[46].institutions[0].display_name | Erasmus MC |
| authorships[46].author_position | middle |
| authorships[46].raw_author_name | Tahsin Stefan Barakat |
| authorships[46].is_corresponding | False |
| authorships[46].raw_affiliation_strings | Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands, Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands, ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands |
| authorships[47].author.id | https://openalex.org/A5012780576 |
| authorships[47].author.orcid | https://orcid.org/0000-0001-5457-4956 |
| authorships[47].author.display_name | Francisco Bustos |
| authorships[47].countries | US |
| authorships[47].affiliations[0].institution_ids | https://openalex.org/I189957204 |
| authorships[47].affiliations[0].raw_affiliation_string | Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Vermillion, South Dakota, USA |
| authorships[47].affiliations[1].institution_ids | https://openalex.org/I4210095855 |
| authorships[47].affiliations[1].raw_affiliation_string | Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA |
| authorships[47].institutions[0].id | https://openalex.org/I4210095855 |
| authorships[47].institutions[0].ror | https://ror.org/00sfn8y78 |
| authorships[47].institutions[0].type | facility |
| authorships[47].institutions[0].lineage | https://openalex.org/I1305840828, https://openalex.org/I4210095855 |
| authorships[47].institutions[0].country_code | US |
| authorships[47].institutions[0].display_name | Sanford Research |
| authorships[47].institutions[1].id | https://openalex.org/I189957204 |
| authorships[47].institutions[1].ror | https://ror.org/0043h8f16 |
| authorships[47].institutions[1].type | education |
| authorships[47].institutions[1].lineage | https://openalex.org/I189957204 |
| authorships[47].institutions[1].country_code | US |
| authorships[47].institutions[1].display_name | University of South Dakota |
| authorships[47].author_position | middle |
| authorships[47].raw_author_name | Francisco Bustos |
| authorships[47].is_corresponding | False |
| authorships[47].raw_affiliation_strings | Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Vermillion, South Dakota, USA, Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, South Dakota, USA |
| authorships[48].author.id | https://openalex.org/A5043639873 |
| authorships[48].author.orcid | https://orcid.org/0000-0002-0593-0261 |
| authorships[48].author.display_name | Sylvie Jaillard |
| authorships[48].countries | FR |
| authorships[48].affiliations[0].institution_ids | https://openalex.org/I154526488, https://openalex.org/I165283593, https://openalex.org/I4210108239, https://openalex.org/I56067802 |
| authorships[48].affiliations[0].raw_affiliation_string | EHESP, INSERM U1085 IRSET, Université de Rennes 1, Rennes, France |
| authorships[48].affiliations[1].institution_ids | https://openalex.org/I4210155724 |
| authorships[48].affiliations[1].raw_affiliation_string | Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France |
| authorships[48].institutions[0].id | https://openalex.org/I4210155724 |
| authorships[48].institutions[0].ror | https://ror.org/05qec5a53 |
| authorships[48].institutions[0].type | healthcare |
| authorships[48].institutions[0].lineage | https://openalex.org/I4210155724 |
| authorships[48].institutions[0].country_code | FR |
| authorships[48].institutions[0].display_name | Centre Hospitalier Universitaire de Rennes |
| authorships[48].institutions[1].id | https://openalex.org/I154526488 |
| authorships[48].institutions[1].ror | https://ror.org/02vjkv261 |
| authorships[48].institutions[1].type | government |
| authorships[48].institutions[1].lineage | https://openalex.org/I154526488 |
| authorships[48].institutions[1].country_code | FR |
| authorships[48].institutions[1].display_name | Inserm |
| authorships[48].institutions[2].id | https://openalex.org/I4210108239 |
| authorships[48].institutions[2].ror | https://ror.org/01p178v10 |
| authorships[48].institutions[2].type | facility |
| authorships[48].institutions[2].lineage | https://openalex.org/I154526488, https://openalex.org/I165283593, https://openalex.org/I4210108239, https://openalex.org/I49451733, https://openalex.org/I56067802 |
| authorships[48].institutions[2].country_code | FR |
| authorships[48].institutions[2].display_name | Institut de Recherche en Santé, Environnement et Travail |
| authorships[48].institutions[3].id | https://openalex.org/I56067802 |
| authorships[48].institutions[3].ror | https://ror.org/015m7wh34 |
| authorships[48].institutions[3].type | education |
| authorships[48].institutions[3].lineage | https://openalex.org/I56067802 |
| authorships[48].institutions[3].country_code | FR |
| authorships[48].institutions[3].display_name | Université de Rennes |
| authorships[48].institutions[4].id | https://openalex.org/I165283593 |
| authorships[48].institutions[4].ror | https://ror.org/01sc83v92 |
| authorships[48].institutions[4].type | education |
| authorships[48].institutions[4].lineage | https://openalex.org/I165283593 |
| authorships[48].institutions[4].country_code | FR |
| authorships[48].institutions[4].display_name | École des Hautes Études en Santé Publique |
| authorships[48].author_position | middle |
| authorships[48].raw_author_name | Sylvie Jaillard |
| authorships[48].is_corresponding | False |
| authorships[48].raw_affiliation_strings | EHESP, INSERM U1085 IRSET, Université de Rennes 1, Rennes, France, Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France |
| authorships[49].author.id | https://openalex.org/A5059388603 |
| authorships[49].author.orcid | |
| authorships[49].author.display_name | Erika Launay |
| authorships[49].countries | FR |
| authorships[49].affiliations[0].institution_ids | https://openalex.org/I4210155724 |
| authorships[49].affiliations[0].raw_affiliation_string | Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France |
| authorships[49].institutions[0].id | https://openalex.org/I4210155724 |
| authorships[49].institutions[0].ror | https://ror.org/05qec5a53 |
| authorships[49].institutions[0].type | healthcare |
| authorships[49].institutions[0].lineage | https://openalex.org/I4210155724 |
| authorships[49].institutions[0].country_code | FR |
| authorships[49].institutions[0].display_name | Centre Hospitalier Universitaire de Rennes |
| authorships[49].author_position | middle |
| authorships[49].raw_author_name | Erika Launay |
| authorships[49].is_corresponding | False |
| authorships[49].raw_affiliation_strings | Service de Cytogénétique et Biologie Cellulaire, CHU Rennes, Rennes, France |
| has_content.pdf | True |
| has_content.grobid_xml | False |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://jmg.bmj.com/content/jmedgenet/early/2024/06/07/jmg-2024-109854.full.pdf |
| open_access.oa_status | hybrid |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective |
| 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 | 0.9991999864578247 |
| 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/W4290308861, https://openalex.org/W2418616428, https://openalex.org/W1840542775, https://openalex.org/W22971176, https://openalex.org/W1980685318, https://openalex.org/W2886915509, https://openalex.org/W2416830231, https://openalex.org/W2028067405, https://openalex.org/W1963927723, https://openalex.org/W2402930185 |
| cited_by_count | 1 |
| counts_by_year[0].year | 2025 |
| counts_by_year[0].cited_by_count | 1 |
| locations_count | 6 |
| best_oa_location.id | doi:10.1136/jmg-2024-109854 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S112540174 |
| best_oa_location.source.issn | 0022-2593, 1468-6244 |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | False |
| best_oa_location.source.issn_l | 0022-2593 |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | Journal of Medical Genetics |
| best_oa_location.source.host_organization | https://openalex.org/P4310319945 |
| best_oa_location.source.host_organization_name | BMJ |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310319945 |
| best_oa_location.license | cc-by |
| best_oa_location.pdf_url | https://jmg.bmj.com/content/jmedgenet/early/2024/06/07/jmg-2024-109854.full.pdf |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | Journal of Medical Genetics |
| best_oa_location.landing_page_url | https://doi.org/10.1136/jmg-2024-109854 |
| primary_location.id | doi:10.1136/jmg-2024-109854 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S112540174 |
| primary_location.source.issn | 0022-2593, 1468-6244 |
| primary_location.source.type | journal |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | 0022-2593 |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | Journal of Medical Genetics |
| primary_location.source.host_organization | https://openalex.org/P4310319945 |
| primary_location.source.host_organization_name | BMJ |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310319945 |
| primary_location.license | cc-by |
| primary_location.pdf_url | https://jmg.bmj.com/content/jmedgenet/early/2024/06/07/jmg-2024-109854.full.pdf |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | https://openalex.org/licenses/cc-by |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | Journal of Medical Genetics |
| primary_location.landing_page_url | https://doi.org/10.1136/jmg-2024-109854 |
| publication_date | 2024-06-07 |
| publication_year | 2024 |
| referenced_works | https://openalex.org/W2800612136, https://openalex.org/W1988516476, https://openalex.org/W3001342018, https://openalex.org/W2022908372, https://openalex.org/W3197323459, https://openalex.org/W2023003596, https://openalex.org/W2151116701, https://openalex.org/W2042036439, https://openalex.org/W2086106600, https://openalex.org/W3111317523, https://openalex.org/W2524806942, https://openalex.org/W2026887261, https://openalex.org/W3093036331, https://openalex.org/W2799595156, https://openalex.org/W1520825673, https://openalex.org/W3158870224, https://openalex.org/W4406468600, https://openalex.org/W2037435726, https://openalex.org/W2033218458, https://openalex.org/W3097148435, https://openalex.org/W4285018381, https://openalex.org/W3091555729, https://openalex.org/W3024152028, https://openalex.org/W2124309259, https://openalex.org/W4380590025, https://openalex.org/W3037311339, https://openalex.org/W3108410359, https://openalex.org/W2161910692 |
| referenced_works_count | 28 |
| abstract_inverted_index., | 160 |
| abstract_inverted_index.6 | 81 |
| abstract_inverted_index.7 | 22 |
| abstract_inverted_index.a | 5, 38, 54, 62, 72, 86, 139, 186 |
| abstract_inverted_index.(9 | 92 |
| abstract_inverted_index.11 | 65, 77 |
| abstract_inverted_index.35 | 43 |
| abstract_inverted_index.41 | 18 |
| abstract_inverted_index.Of | 16 |
| abstract_inverted_index.We | 70, 84, 106, 150 |
| abstract_inverted_index.at | 189 |
| abstract_inverted_index.by | 13, 34 |
| abstract_inverted_index.in | 37, 50, 61, 80, 96, 125, 158 |
| abstract_inverted_index.is | 4 |
| abstract_inverted_index.it | 185 |
| abstract_inverted_index.no | 129 |
| abstract_inverted_index.of | 32, 46, 64, 89, 93, 100, 146, 162, 177, 201 |
| abstract_inverted_index.we | 136, 171 |
| abstract_inverted_index.(10 | 99 |
| abstract_inverted_index.11) | 101 |
| abstract_inverted_index.66% | 145 |
| abstract_inverted_index.and | 102, 119, 192, 197 |
| abstract_inverted_index.but | 112 |
| abstract_inverted_index.for | 41, 56, 144 |
| abstract_inverted_index.has | 133 |
| abstract_inverted_index.new | 78, 154 |
| abstract_inverted_index.sex | 97 |
| abstract_inverted_index.the | 17, 29, 126, 163, 173, 180, 194, 198 |
| abstract_inverted_index.two | 153, 164 |
| abstract_inverted_index.was | 58 |
| abstract_inverted_index.yet | 134 |
| abstract_inverted_index.11), | 94 |
| abstract_inverted_index.RLIM | 14, 159 |
| abstract_inverted_index.also | 113, 151 |
| abstract_inverted_index.bulb | 121 |
| abstract_inverted_index.call | 55 |
| abstract_inverted_index.five | 51 |
| abstract_inverted_index.high | 87 |
| abstract_inverted_index.made | 184 |
| abstract_inverted_index.male | 52 |
| abstract_inverted_index.only | 21 |
| abstract_inverted_index.over | 42 |
| abstract_inverted_index.rare | 203 |
| abstract_inverted_index.show | 137 |
| abstract_inverted_index.skin | 117 |
| abstract_inverted_index.some | 108 |
| abstract_inverted_index.tags | 118 |
| abstract_inverted_index.that | 138, 183 |
| abstract_inverted_index.this | 202 |
| abstract_inverted_index.were | 25 |
| abstract_inverted_index.After | 28 |
| abstract_inverted_index.TOKAS | 33, 73, 148 |
| abstract_inverted_index.cases | 24, 79 |
| abstract_inverted_index.clear | 130 |
| abstract_inverted_index.exome | 35 |
| abstract_inverted_index.fetal | 147, 175 |
| abstract_inverted_index.first | 174 |
| abstract_inverted_index.known | 166, 199 |
| abstract_inverted_index.made, | 59 |
| abstract_inverted_index.years | 44 |
| abstract_inverted_index.French | 82 |
| abstract_inverted_index.Method | 27 |
| abstract_inverted_index.TOKAS, | 178 |
| abstract_inverted_index.cases. | 68, 149 |
| abstract_inverted_index.caused | 12 |
| abstract_inverted_index.cohort | 63, 176 |
| abstract_inverted_index.extend | 193 |
| abstract_inverted_index.family | 39 |
| abstract_inverted_index.hernia | 91 |
| abstract_inverted_index.likely | 155 |
| abstract_inverted_index.report | 85, 107, 152 |
| abstract_inverted_index.(TOKAS) | 3 |
| abstract_inverted_index.Results | 69 |
| abstract_inverted_index.anomaly | 10 |
| abstract_inverted_index.because | 45 |
| abstract_inverted_index.cohort, | 75 |
| abstract_inverted_index.outside | 161 |
| abstract_inverted_index.present | 71, 172 |
| abstract_inverted_index.variant | 142 |
| abstract_inverted_index.various | 103 |
| abstract_inverted_index.Although | 128 |
| abstract_inverted_index.Overall, | 170 |
| abstract_inverted_index.X-linked | 7 |
| abstract_inverted_index.accounts | 143 |
| abstract_inverted_index.analysis | 36 |
| abstract_inverted_index.clinical | 181 |
| abstract_inverted_index.describe | 179 |
| abstract_inverted_index.disorder | 11 |
| abstract_inverted_index.emerged, | 135 |
| abstract_inverted_index.features | 182 |
| abstract_inverted_index.fetuses, | 53 |
| abstract_inverted_index.followed | 40 |
| abstract_inverted_index.genotype | 200 |
| abstract_inverted_index.multiple | 8, 47 |
| abstract_inverted_index.patients | 19 |
| abstract_inverted_index.spectrum | 196 |
| abstract_inverted_index.syndrome | 2, 188 |
| abstract_inverted_index.variants | 157 |
| abstract_inverted_index.visceral | 104 |
| abstract_inverted_index.anomalies | 49 |
| abstract_inverted_index.antenatal | 23, 30, 74 |
| abstract_inverted_index.diagnosis | 31 |
| abstract_inverted_index.disorder. | 204 |
| abstract_inverted_index.families. | 83 |
| abstract_inverted_index.features, | 111 |
| abstract_inverted_index.frequency | 88 |
| abstract_inverted_index.hotspots. | 168 |
| abstract_inverted_index.olfactory | 120 |
| abstract_inverted_index.recessive | 6 |
| abstract_inverted_index.recurrent | 109, 140 |
| abstract_inverted_index.reported, | 20 |
| abstract_inverted_index.resulting | 60 |
| abstract_inverted_index.Conclusion | 169 |
| abstract_inverted_index.congenital | 9, 48 |
| abstract_inverted_index.described. | 26 |
| abstract_inverted_index.describing | 76 |
| abstract_inverted_index.dysmorphic | 110 |
| abstract_inverted_index.mutational | 167 |
| abstract_inverted_index.pathogenic | 156 |
| abstract_inverted_index.previously | 66, 123, 165 |
| abstract_inverted_index.unreported | 124 |
| abstract_inverted_index.correlation | 132 |
| abstract_inverted_index.development | 98 |
| abstract_inverted_index.differences | 95 |
| abstract_inverted_index.hypoplasia, | 115 |
| abstract_inverted_index.literature. | 127 |
| abstract_inverted_index.unpublished | 67 |
| abstract_inverted_index.variations. | 15 |
| abstract_inverted_index.Introduction | 0 |
| abstract_inverted_index.examination, | 191 |
| abstract_inverted_index.phenotypical | 195 |
| abstract_inverted_index.recognisable | 187 |
| abstract_inverted_index.abnormalities | 122 |
| abstract_inverted_index.collaboration | 57 |
| abstract_inverted_index.diaphragmatic | 90 |
| abstract_inverted_index.p.(Arg611Cys) | 141 |
| abstract_inverted_index.pre-auricular | 116 |
| abstract_inverted_index.malformations. | 105 |
| abstract_inverted_index.pontocerebellar | 114 |
| abstract_inverted_index.Tonne-Kalscheuer | 1 |
| abstract_inverted_index.fetopathological | 190 |
| abstract_inverted_index.genotype–phenotype | 131 |
| cited_by_percentile_year.max | 95 |
| cited_by_percentile_year.min | 91 |
| corresponding_author_ids | https://openalex.org/A5043305705 |
| countries_distinct_count | 3 |
| institutions_distinct_count | 52 |
| corresponding_institution_ids | https://openalex.org/I4210155724 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.46000000834465027 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.58732508 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |