Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience Article Swipe
Julia Hoefele
,
Korbinian M. Riedhammer
,
Jasmina Ćomić
,
Velibor Tasić
,
Jovana Putnik
,
Nora Abazi‐Emini
,
Nataša Stajić
,
Thomas Meitinger
,
Valbona Nushi-Stavileci
,
Riccardo Berutti
,
Matthias C. Braunisch
,
Aleksandra Paripović
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.21203/rs.3.rs-2251540/v1
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.21203/rs.3.rs-2251540/v1
Individuals with congenital anomalies of the kidney and urinary tract (CAKUT) show a broad spectrum of malformations. CAKUT can occur in an isolated fashion or as part of a syndromic disorder and can lead to end-stage kidney failure. A monogenic cause can be identified in approximately 12% of affected individuals. This study investigated a single-center CAKUT cohort analyzed by exome sequencing (ES). Emphasis was placed on the question whether diagnostic yield differs between certain CAKUT phenotypes (e.g., bilateral kidney affection, unilateral kidney affection or only urinary tract affection). 86 unrelated individuals with CAKUT were categorized according to their phenotype and analyzed by ES to identify a monogenic cause. Prioritized variants were rated according to recommendations of the American College of Medical Genetics and Genomics and the Association for Clinical Genomic Science. Diagnostic yields of different phenotypic categories were compared. Clinical data were collected using a standardized questionnaire. In the study cohort, 7/86 individuals had a (likely) pathogenic variant in the genes PAX2, PBX1, EYA1 or SALL1. Additionally, in one individual, a 17q12 deletion syndrome (including HNF1B) was detected. 62 individuals had a kidney affection, which was bilateral in 36. All solved cases (8/86, 9%) had bilateral kidney affection (diagnostic yield in subcohort: 8/36, 22%). Although the diagnostic yield in CAKUT cohorts is low, our single-center experience argues, that, in individuals with bilateral kidney affection, monogenic burden is higher than in those with unilateral kidney or only urinary tract affection.
Related Topics
Concepts
Exome sequencing
Single Center
Urinary system
Medicine
Biology
Anatomy
Genetics
Mutation
Internal medicine
Gene
Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.21203/rs.3.rs-2251540/v1
- https://www.researchsquare.com/article/rs-2251540/latest.pdf
- OA Status
- gold
- References
- 27
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4308843654
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4308843654Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.21203/rs.3.rs-2251540/v1Digital Object Identifier
- Title
-
Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experienceWork title
- Type
-
preprintOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2022Year of publication
- Publication date
-
2022-11-11Full publication date if available
- Authors
-
Julia Hoefele, Korbinian M. Riedhammer, Jasmina Ćomić, Velibor Tasić, Jovana Putnik, Nora Abazi‐Emini, Nataša Stajić, Thomas Meitinger, Valbona Nushi-Stavileci, Riccardo Berutti, Matthias C. Braunisch, Aleksandra ParipovićList of authors in order
- Landing page
-
https://doi.org/10.21203/rs.3.rs-2251540/v1Publisher landing page
- PDF URL
-
https://www.researchsquare.com/article/rs-2251540/latest.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://www.researchsquare.com/article/rs-2251540/latest.pdfDirect OA link when available
- Concepts
-
Exome sequencing, Single Center, Urinary system, Medicine, Biology, Anatomy, Genetics, Mutation, Internal medicine, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
- References (count)
-
27Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4308843654 |
|---|---|
| doi | https://doi.org/10.21203/rs.3.rs-2251540/v1 |
| ids.doi | https://doi.org/10.21203/rs.3.rs-2251540/v1 |
| ids.openalex | https://openalex.org/W4308843654 |
| fwci | 0.0 |
| type | preprint |
| title | Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience |
| biblio.issue | |
| biblio.volume | |
| biblio.last_page | |
| biblio.first_page | |
| topics[0].id | https://openalex.org/T12140 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9998000264167786 |
| 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 | Renal and related cancers |
| topics[1].id | https://openalex.org/T11174 |
| topics[1].field.id | https://openalex.org/fields/27 |
| topics[1].field.display_name | Medicine |
| topics[1].score | 0.9904000163078308 |
| topics[1].domain.id | https://openalex.org/domains/4 |
| topics[1].domain.display_name | Health Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/2735 |
| topics[1].subfield.display_name | Pediatrics, Perinatology and Child Health |
| topics[1].display_name | Pediatric Urology and Nephrology Studies |
| topics[2].id | https://openalex.org/T10449 |
| topics[2].field.id | https://openalex.org/fields/27 |
| topics[2].field.display_name | Medicine |
| topics[2].score | 0.9851999878883362 |
| topics[2].domain.id | https://openalex.org/domains/4 |
| topics[2].domain.display_name | Health Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/2740 |
| topics[2].subfield.display_name | Pulmonary and Respiratory Medicine |
| topics[2].display_name | Renal cell carcinoma treatment |
| is_xpac | False |
| apc_list | |
| apc_paid | |
| concepts[0].id | https://openalex.org/C16671776 |
| concepts[0].level | 4 |
| concepts[0].score | 0.6599613428115845 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q5420592 |
| concepts[0].display_name | Exome sequencing |
| concepts[1].id | https://openalex.org/C2780073493 |
| concepts[1].level | 2 |
| concepts[1].score | 0.6345932483673096 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q7523837 |
| concepts[1].display_name | Single Center |
| concepts[2].id | https://openalex.org/C77411442 |
| concepts[2].level | 2 |
| concepts[2].score | 0.5310505032539368 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q181100 |
| concepts[2].display_name | Urinary system |
| concepts[3].id | https://openalex.org/C71924100 |
| concepts[3].level | 0 |
| concepts[3].score | 0.406911700963974 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[3].display_name | Medicine |
| concepts[4].id | https://openalex.org/C86803240 |
| concepts[4].level | 0 |
| concepts[4].score | 0.3345261812210083 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[4].display_name | Biology |
| concepts[5].id | https://openalex.org/C105702510 |
| concepts[5].level | 1 |
| concepts[5].score | 0.2812905013561249 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q514 |
| concepts[5].display_name | Anatomy |
| concepts[6].id | https://openalex.org/C54355233 |
| concepts[6].level | 1 |
| concepts[6].score | 0.1683223843574524 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[6].display_name | Genetics |
| concepts[7].id | https://openalex.org/C501734568 |
| concepts[7].level | 3 |
| concepts[7].score | 0.14514952898025513 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q42918 |
| concepts[7].display_name | Mutation |
| concepts[8].id | https://openalex.org/C126322002 |
| concepts[8].level | 1 |
| concepts[8].score | 0.13051626086235046 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q11180 |
| concepts[8].display_name | Internal medicine |
| concepts[9].id | https://openalex.org/C104317684 |
| concepts[9].level | 2 |
| concepts[9].score | 0.0 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[9].display_name | Gene |
| keywords[0].id | https://openalex.org/keywords/exome-sequencing |
| keywords[0].score | 0.6599613428115845 |
| keywords[0].display_name | Exome sequencing |
| keywords[1].id | https://openalex.org/keywords/single-center |
| keywords[1].score | 0.6345932483673096 |
| keywords[1].display_name | Single Center |
| keywords[2].id | https://openalex.org/keywords/urinary-system |
| keywords[2].score | 0.5310505032539368 |
| keywords[2].display_name | Urinary system |
| keywords[3].id | https://openalex.org/keywords/medicine |
| keywords[3].score | 0.406911700963974 |
| keywords[3].display_name | Medicine |
| keywords[4].id | https://openalex.org/keywords/biology |
| keywords[4].score | 0.3345261812210083 |
| keywords[4].display_name | Biology |
| keywords[5].id | https://openalex.org/keywords/anatomy |
| keywords[5].score | 0.2812905013561249 |
| keywords[5].display_name | Anatomy |
| keywords[6].id | https://openalex.org/keywords/genetics |
| keywords[6].score | 0.1683223843574524 |
| keywords[6].display_name | Genetics |
| keywords[7].id | https://openalex.org/keywords/mutation |
| keywords[7].score | 0.14514952898025513 |
| keywords[7].display_name | Mutation |
| keywords[8].id | https://openalex.org/keywords/internal-medicine |
| keywords[8].score | 0.13051626086235046 |
| keywords[8].display_name | Internal medicine |
| language | en |
| locations[0].id | doi:10.21203/rs.3.rs-2251540/v1 |
| locations[0].is_oa | True |
| locations[0].source | |
| locations[0].license | cc-by |
| locations[0].pdf_url | https://www.researchsquare.com/article/rs-2251540/latest.pdf |
| locations[0].version | acceptedVersion |
| locations[0].raw_type | posted-content |
| locations[0].license_id | https://openalex.org/licenses/cc-by |
| locations[0].is_accepted | True |
| locations[0].is_published | False |
| locations[0].raw_source_name | |
| locations[0].landing_page_url | https://doi.org/10.21203/rs.3.rs-2251540/v1 |
| indexed_in | crossref |
| authorships[0].author.id | https://openalex.org/A5045535986 |
| authorships[0].author.orcid | https://orcid.org/0000-0002-7917-7129 |
| authorships[0].author.display_name | Julia Hoefele |
| authorships[0].countries | DE, SK, US |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I285663978 |
| authorships[0].affiliations[0].raw_affiliation_string | -0002-7917-7129 |
| authorships[0].affiliations[1].institution_ids | https://openalex.org/I4210157357 |
| authorships[0].affiliations[1].raw_affiliation_string | Faculty of Medicine, University Ss. Cyril |
| authorships[0].affiliations[2].institution_ids | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[0].affiliations[2].raw_affiliation_string | Klinikum rechts der Isar, Technical University of Munich, School of Medicine |
| authorships[0].affiliations[3].institution_ids | https://openalex.org/I62916508 |
| authorships[0].affiliations[3].raw_affiliation_string | Technical University of Munich |
| authorships[0].institutions[0].id | https://openalex.org/I2802619606 |
| authorships[0].institutions[0].ror | https://ror.org/04jc43x05 |
| authorships[0].institutions[0].type | healthcare |
| authorships[0].institutions[0].lineage | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[0].institutions[0].country_code | DE |
| authorships[0].institutions[0].display_name | Klinikum rechts der Isar |
| authorships[0].institutions[1].id | https://openalex.org/I62916508 |
| authorships[0].institutions[1].ror | https://ror.org/02kkvpp62 |
| authorships[0].institutions[1].type | education |
| authorships[0].institutions[1].lineage | https://openalex.org/I62916508 |
| authorships[0].institutions[1].country_code | DE |
| authorships[0].institutions[1].display_name | Technical University of Munich |
| authorships[0].institutions[2].id | https://openalex.org/I4210157357 |
| authorships[0].institutions[2].ror | https://ror.org/04xdyq509 |
| authorships[0].institutions[2].type | education |
| authorships[0].institutions[2].lineage | https://openalex.org/I4210157357 |
| authorships[0].institutions[2].country_code | SK |
| authorships[0].institutions[2].display_name | University of Ss. Cyril and Methodius in Trnava |
| authorships[0].institutions[3].id | https://openalex.org/I285663978 |
| authorships[0].institutions[3].ror | https://ror.org/02xwsbr93 |
| authorships[0].institutions[3].type | education |
| authorships[0].institutions[3].lineage | https://openalex.org/I285663978 |
| authorships[0].institutions[3].country_code | US |
| authorships[0].institutions[3].display_name | Weatherford College |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Julia Hoefele |
| authorships[0].is_corresponding | True |
| authorships[0].raw_affiliation_strings | -0002-7917-7129, Faculty of Medicine, University Ss. Cyril, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Technical University of Munich |
| authorships[1].author.id | https://openalex.org/A5089262106 |
| authorships[1].author.orcid | https://orcid.org/0000-0002-7503-5801 |
| authorships[1].author.display_name | Korbinian M. Riedhammer |
| authorships[1].countries | DE, SK, US |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I4210157357 |
| authorships[1].affiliations[0].raw_affiliation_string | Faculty of Medicine, University Ss. Cyril |
| authorships[1].affiliations[1].institution_ids | https://openalex.org/I285663978 |
| authorships[1].affiliations[1].raw_affiliation_string | -0002-7917-7129 |
| authorships[1].affiliations[2].institution_ids | https://openalex.org/I62916508 |
| authorships[1].affiliations[2].raw_affiliation_string | Technical University of Munich |
| authorships[1].affiliations[3].institution_ids | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[1].affiliations[3].raw_affiliation_string | Klinikum rechts der Isar, Technical University of Munich, School of Medicine |
| authorships[1].institutions[0].id | https://openalex.org/I2802619606 |
| authorships[1].institutions[0].ror | https://ror.org/04jc43x05 |
| authorships[1].institutions[0].type | healthcare |
| authorships[1].institutions[0].lineage | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[1].institutions[0].country_code | DE |
| authorships[1].institutions[0].display_name | Klinikum rechts der Isar |
| authorships[1].institutions[1].id | https://openalex.org/I62916508 |
| authorships[1].institutions[1].ror | https://ror.org/02kkvpp62 |
| authorships[1].institutions[1].type | education |
| authorships[1].institutions[1].lineage | https://openalex.org/I62916508 |
| authorships[1].institutions[1].country_code | DE |
| authorships[1].institutions[1].display_name | Technical University of Munich |
| authorships[1].institutions[2].id | https://openalex.org/I4210157357 |
| authorships[1].institutions[2].ror | https://ror.org/04xdyq509 |
| authorships[1].institutions[2].type | education |
| authorships[1].institutions[2].lineage | https://openalex.org/I4210157357 |
| authorships[1].institutions[2].country_code | SK |
| authorships[1].institutions[2].display_name | University of Ss. Cyril and Methodius in Trnava |
| authorships[1].institutions[3].id | https://openalex.org/I285663978 |
| authorships[1].institutions[3].ror | https://ror.org/02xwsbr93 |
| authorships[1].institutions[3].type | education |
| authorships[1].institutions[3].lineage | https://openalex.org/I285663978 |
| authorships[1].institutions[3].country_code | US |
| authorships[1].institutions[3].display_name | Weatherford College |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Korbinian Riedhammer |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | -0002-7917-7129, Faculty of Medicine, University Ss. Cyril, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Technical University of Munich |
| authorships[2].author.id | https://openalex.org/A5056730891 |
| authorships[2].author.orcid | |
| authorships[2].author.display_name | Jasmina Ćomić |
| authorships[2].countries | DE, SK, US |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I285663978 |
| authorships[2].affiliations[0].raw_affiliation_string | -0002-7917-7129 |
| authorships[2].affiliations[1].institution_ids | https://openalex.org/I4210157357 |
| authorships[2].affiliations[1].raw_affiliation_string | Faculty of Medicine, University Ss. Cyril |
| authorships[2].affiliations[2].institution_ids | https://openalex.org/I62916508 |
| authorships[2].affiliations[2].raw_affiliation_string | Technical University of Munich |
| authorships[2].affiliations[3].institution_ids | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[2].affiliations[3].raw_affiliation_string | Klinikum rechts der Isar, Technical University of Munich, School of Medicine |
| authorships[2].institutions[0].id | https://openalex.org/I2802619606 |
| authorships[2].institutions[0].ror | https://ror.org/04jc43x05 |
| authorships[2].institutions[0].type | healthcare |
| authorships[2].institutions[0].lineage | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[2].institutions[0].country_code | DE |
| authorships[2].institutions[0].display_name | Klinikum rechts der Isar |
| authorships[2].institutions[1].id | https://openalex.org/I62916508 |
| authorships[2].institutions[1].ror | https://ror.org/02kkvpp62 |
| authorships[2].institutions[1].type | education |
| authorships[2].institutions[1].lineage | https://openalex.org/I62916508 |
| authorships[2].institutions[1].country_code | DE |
| authorships[2].institutions[1].display_name | Technical University of Munich |
| authorships[2].institutions[2].id | https://openalex.org/I4210157357 |
| authorships[2].institutions[2].ror | https://ror.org/04xdyq509 |
| authorships[2].institutions[2].type | education |
| authorships[2].institutions[2].lineage | https://openalex.org/I4210157357 |
| authorships[2].institutions[2].country_code | SK |
| authorships[2].institutions[2].display_name | University of Ss. Cyril and Methodius in Trnava |
| authorships[2].institutions[3].id | https://openalex.org/I285663978 |
| authorships[2].institutions[3].ror | https://ror.org/02xwsbr93 |
| authorships[2].institutions[3].type | education |
| authorships[2].institutions[3].lineage | https://openalex.org/I285663978 |
| authorships[2].institutions[3].country_code | US |
| authorships[2].institutions[3].display_name | Weatherford College |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Jasmina Ćomić |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | -0002-7917-7129, Faculty of Medicine, University Ss. Cyril, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Technical University of Munich |
| authorships[3].author.id | https://openalex.org/A5080890031 |
| authorships[3].author.orcid | https://orcid.org/0000-0002-3377-1245 |
| authorships[3].author.display_name | Velibor Tasić |
| authorships[3].countries | DE, SK, US |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I285663978 |
| authorships[3].affiliations[0].raw_affiliation_string | -0002-7917-7129 |
| authorships[3].affiliations[1].institution_ids | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[3].affiliations[1].raw_affiliation_string | Klinikum rechts der Isar, Technical University of Munich, School of Medicine |
| authorships[3].affiliations[2].institution_ids | https://openalex.org/I62916508 |
| authorships[3].affiliations[2].raw_affiliation_string | Technical University of Munich |
| authorships[3].affiliations[3].institution_ids | https://openalex.org/I4210157357 |
| authorships[3].affiliations[3].raw_affiliation_string | 4. Faculty of Medicine, University Ss. Cyril and Methodius |
| authorships[3].institutions[0].id | https://openalex.org/I2802619606 |
| authorships[3].institutions[0].ror | https://ror.org/04jc43x05 |
| authorships[3].institutions[0].type | healthcare |
| authorships[3].institutions[0].lineage | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[3].institutions[0].country_code | DE |
| authorships[3].institutions[0].display_name | Klinikum rechts der Isar |
| authorships[3].institutions[1].id | https://openalex.org/I62916508 |
| authorships[3].institutions[1].ror | https://ror.org/02kkvpp62 |
| authorships[3].institutions[1].type | education |
| authorships[3].institutions[1].lineage | https://openalex.org/I62916508 |
| authorships[3].institutions[1].country_code | DE |
| authorships[3].institutions[1].display_name | Technical University of Munich |
| authorships[3].institutions[2].id | https://openalex.org/I4210157357 |
| authorships[3].institutions[2].ror | https://ror.org/04xdyq509 |
| authorships[3].institutions[2].type | education |
| authorships[3].institutions[2].lineage | https://openalex.org/I4210157357 |
| authorships[3].institutions[2].country_code | SK |
| authorships[3].institutions[2].display_name | University of Ss. Cyril and Methodius in Trnava |
| authorships[3].institutions[3].id | https://openalex.org/I285663978 |
| authorships[3].institutions[3].ror | https://ror.org/02xwsbr93 |
| authorships[3].institutions[3].type | education |
| authorships[3].institutions[3].lineage | https://openalex.org/I285663978 |
| authorships[3].institutions[3].country_code | US |
| authorships[3].institutions[3].display_name | Weatherford College |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Velibor Tasic |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | -0002-7917-7129, 4. Faculty of Medicine, University Ss. Cyril and Methodius, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Technical University of Munich |
| authorships[4].author.id | https://openalex.org/A5033266642 |
| authorships[4].author.orcid | https://orcid.org/0000-0002-2085-4834 |
| authorships[4].author.display_name | Jovana Putnik |
| authorships[4].countries | RS |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I4210135335 |
| authorships[4].affiliations[0].raw_affiliation_string | Institute for Mother and Child Health Care of Serbia |
| authorships[4].institutions[0].id | https://openalex.org/I4210135335 |
| authorships[4].institutions[0].ror | https://ror.org/03pv0jn66 |
| authorships[4].institutions[0].type | healthcare |
| authorships[4].institutions[0].lineage | https://openalex.org/I4210135335 |
| authorships[4].institutions[0].country_code | RS |
| authorships[4].institutions[0].display_name | Institute of Public Health of Serbia |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Jovana Putnik |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Institute for Mother and Child Health Care of Serbia |
| authorships[5].author.id | https://openalex.org/A5002993958 |
| authorships[5].author.orcid | |
| authorships[5].author.display_name | Nora Abazi‐Emini |
| authorships[5].countries | DE, SK, US |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I285663978 |
| authorships[5].affiliations[0].raw_affiliation_string | -0002-7917-7129 |
| authorships[5].affiliations[1].institution_ids | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[5].affiliations[1].raw_affiliation_string | Klinikum rechts der Isar, Technical University of Munich, School of Medicine |
| authorships[5].affiliations[2].institution_ids | https://openalex.org/I62916508 |
| authorships[5].affiliations[2].raw_affiliation_string | Technical University of Munich |
| authorships[5].affiliations[3].institution_ids | https://openalex.org/I4210157357 |
| authorships[5].affiliations[3].raw_affiliation_string | Faculty of Medicine, University Ss. Cyril |
| authorships[5].institutions[0].id | https://openalex.org/I2802619606 |
| authorships[5].institutions[0].ror | https://ror.org/04jc43x05 |
| authorships[5].institutions[0].type | healthcare |
| authorships[5].institutions[0].lineage | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[5].institutions[0].country_code | DE |
| authorships[5].institutions[0].display_name | Klinikum rechts der Isar |
| authorships[5].institutions[1].id | https://openalex.org/I62916508 |
| authorships[5].institutions[1].ror | https://ror.org/02kkvpp62 |
| authorships[5].institutions[1].type | education |
| authorships[5].institutions[1].lineage | https://openalex.org/I62916508 |
| authorships[5].institutions[1].country_code | DE |
| authorships[5].institutions[1].display_name | Technical University of Munich |
| authorships[5].institutions[2].id | https://openalex.org/I4210157357 |
| authorships[5].institutions[2].ror | https://ror.org/04xdyq509 |
| authorships[5].institutions[2].type | education |
| authorships[5].institutions[2].lineage | https://openalex.org/I4210157357 |
| authorships[5].institutions[2].country_code | SK |
| authorships[5].institutions[2].display_name | University of Ss. Cyril and Methodius in Trnava |
| authorships[5].institutions[3].id | https://openalex.org/I285663978 |
| authorships[5].institutions[3].ror | https://ror.org/02xwsbr93 |
| authorships[5].institutions[3].type | education |
| authorships[5].institutions[3].lineage | https://openalex.org/I285663978 |
| authorships[5].institutions[3].country_code | US |
| authorships[5].institutions[3].display_name | Weatherford College |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Nora Abazi-Emini |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | -0002-7917-7129, Faculty of Medicine, University Ss. Cyril, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Technical University of Munich |
| authorships[6].author.id | https://openalex.org/A5053904601 |
| authorships[6].author.orcid | https://orcid.org/0000-0001-9384-1973 |
| authorships[6].author.display_name | Nataša Stajić |
| authorships[6].countries | DE, SK, US |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[6].affiliations[0].raw_affiliation_string | Klinikum rechts der Isar, Technical University of Munich, School of Medicine |
| authorships[6].affiliations[1].institution_ids | https://openalex.org/I285663978 |
| authorships[6].affiliations[1].raw_affiliation_string | -0002-7917-7129 |
| authorships[6].affiliations[2].institution_ids | https://openalex.org/I4210157357 |
| authorships[6].affiliations[2].raw_affiliation_string | Faculty of Medicine, University Ss. Cyril |
| authorships[6].affiliations[3].institution_ids | https://openalex.org/I62916508 |
| authorships[6].affiliations[3].raw_affiliation_string | Technical University of Munich |
| authorships[6].institutions[0].id | https://openalex.org/I2802619606 |
| authorships[6].institutions[0].ror | https://ror.org/04jc43x05 |
| authorships[6].institutions[0].type | healthcare |
| authorships[6].institutions[0].lineage | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[6].institutions[0].country_code | DE |
| authorships[6].institutions[0].display_name | Klinikum rechts der Isar |
| authorships[6].institutions[1].id | https://openalex.org/I62916508 |
| authorships[6].institutions[1].ror | https://ror.org/02kkvpp62 |
| authorships[6].institutions[1].type | education |
| authorships[6].institutions[1].lineage | https://openalex.org/I62916508 |
| authorships[6].institutions[1].country_code | DE |
| authorships[6].institutions[1].display_name | Technical University of Munich |
| authorships[6].institutions[2].id | https://openalex.org/I4210157357 |
| authorships[6].institutions[2].ror | https://ror.org/04xdyq509 |
| authorships[6].institutions[2].type | education |
| authorships[6].institutions[2].lineage | https://openalex.org/I4210157357 |
| authorships[6].institutions[2].country_code | SK |
| authorships[6].institutions[2].display_name | University of Ss. Cyril and Methodius in Trnava |
| authorships[6].institutions[3].id | https://openalex.org/I285663978 |
| authorships[6].institutions[3].ror | https://ror.org/02xwsbr93 |
| authorships[6].institutions[3].type | education |
| authorships[6].institutions[3].lineage | https://openalex.org/I285663978 |
| authorships[6].institutions[3].country_code | US |
| authorships[6].institutions[3].display_name | Weatherford College |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Nataša Stajić |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | -0002-7917-7129, Faculty of Medicine, University Ss. Cyril, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Technical University of Munich |
| authorships[7].author.id | https://openalex.org/A5006468847 |
| authorships[7].author.orcid | https://orcid.org/0000-0002-8838-8403 |
| authorships[7].author.display_name | Thomas Meitinger |
| authorships[7].countries | DE, SK, US |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[7].affiliations[0].raw_affiliation_string | Klinikum rechts der Isar, Technical University of Munich, School of Medicine |
| authorships[7].affiliations[1].institution_ids | https://openalex.org/I4210157357 |
| authorships[7].affiliations[1].raw_affiliation_string | Faculty of Medicine, University Ss. Cyril |
| authorships[7].affiliations[2].institution_ids | https://openalex.org/I62916508 |
| authorships[7].affiliations[2].raw_affiliation_string | Technical University of Munich |
| authorships[7].affiliations[3].institution_ids | https://openalex.org/I285663978 |
| authorships[7].affiliations[3].raw_affiliation_string | -0002-7917-7129 |
| authorships[7].institutions[0].id | https://openalex.org/I2802619606 |
| authorships[7].institutions[0].ror | https://ror.org/04jc43x05 |
| authorships[7].institutions[0].type | healthcare |
| authorships[7].institutions[0].lineage | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[7].institutions[0].country_code | DE |
| authorships[7].institutions[0].display_name | Klinikum rechts der Isar |
| authorships[7].institutions[1].id | https://openalex.org/I62916508 |
| authorships[7].institutions[1].ror | https://ror.org/02kkvpp62 |
| authorships[7].institutions[1].type | education |
| authorships[7].institutions[1].lineage | https://openalex.org/I62916508 |
| authorships[7].institutions[1].country_code | DE |
| authorships[7].institutions[1].display_name | Technical University of Munich |
| authorships[7].institutions[2].id | https://openalex.org/I4210157357 |
| authorships[7].institutions[2].ror | https://ror.org/04xdyq509 |
| authorships[7].institutions[2].type | education |
| authorships[7].institutions[2].lineage | https://openalex.org/I4210157357 |
| authorships[7].institutions[2].country_code | SK |
| authorships[7].institutions[2].display_name | University of Ss. Cyril and Methodius in Trnava |
| authorships[7].institutions[3].id | https://openalex.org/I285663978 |
| authorships[7].institutions[3].ror | https://ror.org/02xwsbr93 |
| authorships[7].institutions[3].type | education |
| authorships[7].institutions[3].lineage | https://openalex.org/I285663978 |
| authorships[7].institutions[3].country_code | US |
| authorships[7].institutions[3].display_name | Weatherford College |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Thomas Meitinger |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | -0002-7917-7129, Faculty of Medicine, University Ss. Cyril, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Technical University of Munich |
| authorships[8].author.id | https://openalex.org/A5043073446 |
| authorships[8].author.orcid | |
| authorships[8].author.display_name | Valbona Nushi-Stavileci |
| authorships[8].countries | DE, SK, US |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I4210157357 |
| authorships[8].affiliations[0].raw_affiliation_string | Faculty of Medicine, University Ss. Cyril |
| authorships[8].affiliations[1].institution_ids | https://openalex.org/I285663978 |
| authorships[8].affiliations[1].raw_affiliation_string | -0002-7917-7129 |
| authorships[8].affiliations[2].institution_ids | https://openalex.org/I62916508 |
| authorships[8].affiliations[2].raw_affiliation_string | Technical University of Munich |
| authorships[8].affiliations[3].institution_ids | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[8].affiliations[3].raw_affiliation_string | Klinikum rechts der Isar, Technical University of Munich, School of Medicine |
| authorships[8].institutions[0].id | https://openalex.org/I2802619606 |
| authorships[8].institutions[0].ror | https://ror.org/04jc43x05 |
| authorships[8].institutions[0].type | healthcare |
| authorships[8].institutions[0].lineage | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[8].institutions[0].country_code | DE |
| authorships[8].institutions[0].display_name | Klinikum rechts der Isar |
| authorships[8].institutions[1].id | https://openalex.org/I62916508 |
| authorships[8].institutions[1].ror | https://ror.org/02kkvpp62 |
| authorships[8].institutions[1].type | education |
| authorships[8].institutions[1].lineage | https://openalex.org/I62916508 |
| authorships[8].institutions[1].country_code | DE |
| authorships[8].institutions[1].display_name | Technical University of Munich |
| authorships[8].institutions[2].id | https://openalex.org/I4210157357 |
| authorships[8].institutions[2].ror | https://ror.org/04xdyq509 |
| authorships[8].institutions[2].type | education |
| authorships[8].institutions[2].lineage | https://openalex.org/I4210157357 |
| authorships[8].institutions[2].country_code | SK |
| authorships[8].institutions[2].display_name | University of Ss. Cyril and Methodius in Trnava |
| authorships[8].institutions[3].id | https://openalex.org/I285663978 |
| authorships[8].institutions[3].ror | https://ror.org/02xwsbr93 |
| authorships[8].institutions[3].type | education |
| authorships[8].institutions[3].lineage | https://openalex.org/I285663978 |
| authorships[8].institutions[3].country_code | US |
| authorships[8].institutions[3].display_name | Weatherford College |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Valbona Nushi-Stavileci |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | -0002-7917-7129, Faculty of Medicine, University Ss. Cyril, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Technical University of Munich |
| authorships[9].author.id | https://openalex.org/A5005702061 |
| authorships[9].author.orcid | https://orcid.org/0000-0003-1862-3700 |
| authorships[9].author.display_name | Riccardo Berutti |
| authorships[9].countries | DE, SK, US |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[9].affiliations[0].raw_affiliation_string | Klinikum rechts der Isar, Technical University of Munich, School of Medicine |
| authorships[9].affiliations[1].institution_ids | https://openalex.org/I285663978 |
| authorships[9].affiliations[1].raw_affiliation_string | -0002-7917-7129 |
| authorships[9].affiliations[2].institution_ids | https://openalex.org/I62916508 |
| authorships[9].affiliations[2].raw_affiliation_string | Technical University of Munich |
| authorships[9].affiliations[3].institution_ids | https://openalex.org/I4210157357 |
| authorships[9].affiliations[3].raw_affiliation_string | Faculty of Medicine, University Ss. Cyril |
| authorships[9].institutions[0].id | https://openalex.org/I2802619606 |
| authorships[9].institutions[0].ror | https://ror.org/04jc43x05 |
| authorships[9].institutions[0].type | healthcare |
| authorships[9].institutions[0].lineage | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[9].institutions[0].country_code | DE |
| authorships[9].institutions[0].display_name | Klinikum rechts der Isar |
| authorships[9].institutions[1].id | https://openalex.org/I62916508 |
| authorships[9].institutions[1].ror | https://ror.org/02kkvpp62 |
| authorships[9].institutions[1].type | education |
| authorships[9].institutions[1].lineage | https://openalex.org/I62916508 |
| authorships[9].institutions[1].country_code | DE |
| authorships[9].institutions[1].display_name | Technical University of Munich |
| authorships[9].institutions[2].id | https://openalex.org/I4210157357 |
| authorships[9].institutions[2].ror | https://ror.org/04xdyq509 |
| authorships[9].institutions[2].type | education |
| authorships[9].institutions[2].lineage | https://openalex.org/I4210157357 |
| authorships[9].institutions[2].country_code | SK |
| authorships[9].institutions[2].display_name | University of Ss. Cyril and Methodius in Trnava |
| authorships[9].institutions[3].id | https://openalex.org/I285663978 |
| authorships[9].institutions[3].ror | https://ror.org/02xwsbr93 |
| authorships[9].institutions[3].type | education |
| authorships[9].institutions[3].lineage | https://openalex.org/I285663978 |
| authorships[9].institutions[3].country_code | US |
| authorships[9].institutions[3].display_name | Weatherford College |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Riccardo Berutti |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | -0002-7917-7129, Faculty of Medicine, University Ss. Cyril, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Technical University of Munich |
| authorships[10].author.id | https://openalex.org/A5008432515 |
| authorships[10].author.orcid | |
| authorships[10].author.display_name | Matthias C. Braunisch |
| authorships[10].countries | DE, SK, US |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I4210157357 |
| authorships[10].affiliations[0].raw_affiliation_string | Faculty of Medicine, University Ss. Cyril |
| authorships[10].affiliations[1].institution_ids | https://openalex.org/I62916508 |
| authorships[10].affiliations[1].raw_affiliation_string | Technical University of Munich |
| authorships[10].affiliations[2].institution_ids | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[10].affiliations[2].raw_affiliation_string | Klinikum rechts der Isar, Technical University of Munich, School of Medicine |
| authorships[10].affiliations[3].institution_ids | https://openalex.org/I285663978 |
| authorships[10].affiliations[3].raw_affiliation_string | -0002-7917-7129 |
| authorships[10].institutions[0].id | https://openalex.org/I2802619606 |
| authorships[10].institutions[0].ror | https://ror.org/04jc43x05 |
| authorships[10].institutions[0].type | healthcare |
| authorships[10].institutions[0].lineage | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[10].institutions[0].country_code | DE |
| authorships[10].institutions[0].display_name | Klinikum rechts der Isar |
| authorships[10].institutions[1].id | https://openalex.org/I62916508 |
| authorships[10].institutions[1].ror | https://ror.org/02kkvpp62 |
| authorships[10].institutions[1].type | education |
| authorships[10].institutions[1].lineage | https://openalex.org/I62916508 |
| authorships[10].institutions[1].country_code | DE |
| authorships[10].institutions[1].display_name | Technical University of Munich |
| authorships[10].institutions[2].id | https://openalex.org/I4210157357 |
| authorships[10].institutions[2].ror | https://ror.org/04xdyq509 |
| authorships[10].institutions[2].type | education |
| authorships[10].institutions[2].lineage | https://openalex.org/I4210157357 |
| authorships[10].institutions[2].country_code | SK |
| authorships[10].institutions[2].display_name | University of Ss. Cyril and Methodius in Trnava |
| authorships[10].institutions[3].id | https://openalex.org/I285663978 |
| authorships[10].institutions[3].ror | https://ror.org/02xwsbr93 |
| authorships[10].institutions[3].type | education |
| authorships[10].institutions[3].lineage | https://openalex.org/I285663978 |
| authorships[10].institutions[3].country_code | US |
| authorships[10].institutions[3].display_name | Weatherford College |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Matthias Braunisch |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | -0002-7917-7129, Faculty of Medicine, University Ss. Cyril, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Technical University of Munich |
| authorships[11].author.id | https://openalex.org/A5016108956 |
| authorships[11].author.orcid | https://orcid.org/0009-0008-1788-489X |
| authorships[11].author.display_name | Aleksandra Paripović |
| authorships[11].countries | DE, SK, US |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I62916508 |
| authorships[11].affiliations[0].raw_affiliation_string | Technical University of Munich |
| authorships[11].affiliations[1].institution_ids | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[11].affiliations[1].raw_affiliation_string | Klinikum rechts der Isar, Technical University of Munich, School of Medicine |
| authorships[11].affiliations[2].institution_ids | https://openalex.org/I4210157357 |
| authorships[11].affiliations[2].raw_affiliation_string | Faculty of Medicine, University Ss. Cyril |
| authorships[11].affiliations[3].institution_ids | https://openalex.org/I285663978 |
| authorships[11].affiliations[3].raw_affiliation_string | -0002-7917-7129 |
| authorships[11].institutions[0].id | https://openalex.org/I2802619606 |
| authorships[11].institutions[0].ror | https://ror.org/04jc43x05 |
| authorships[11].institutions[0].type | healthcare |
| authorships[11].institutions[0].lineage | https://openalex.org/I2802619606, https://openalex.org/I62916508 |
| authorships[11].institutions[0].country_code | DE |
| authorships[11].institutions[0].display_name | Klinikum rechts der Isar |
| authorships[11].institutions[1].id | https://openalex.org/I62916508 |
| authorships[11].institutions[1].ror | https://ror.org/02kkvpp62 |
| authorships[11].institutions[1].type | education |
| authorships[11].institutions[1].lineage | https://openalex.org/I62916508 |
| authorships[11].institutions[1].country_code | DE |
| authorships[11].institutions[1].display_name | Technical University of Munich |
| authorships[11].institutions[2].id | https://openalex.org/I4210157357 |
| authorships[11].institutions[2].ror | https://ror.org/04xdyq509 |
| authorships[11].institutions[2].type | education |
| authorships[11].institutions[2].lineage | https://openalex.org/I4210157357 |
| authorships[11].institutions[2].country_code | SK |
| authorships[11].institutions[2].display_name | University of Ss. Cyril and Methodius in Trnava |
| authorships[11].institutions[3].id | https://openalex.org/I285663978 |
| authorships[11].institutions[3].ror | https://ror.org/02xwsbr93 |
| authorships[11].institutions[3].type | education |
| authorships[11].institutions[3].lineage | https://openalex.org/I285663978 |
| authorships[11].institutions[3].country_code | US |
| authorships[11].institutions[3].display_name | Weatherford College |
| authorships[11].author_position | last |
| authorships[11].raw_author_name | Aleksandra Paripovic |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | -0002-7917-7129, Faculty of Medicine, University Ss. Cyril, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Technical University of Munich |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://www.researchsquare.com/article/rs-2251540/latest.pdf |
| open_access.oa_status | gold |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience |
| has_fulltext | True |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T12140 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9998000264167786 |
| 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 | Renal and related cancers |
| related_works | https://openalex.org/W2899084033, https://openalex.org/W2748952813, https://openalex.org/W4391375266, https://openalex.org/W3031052312, https://openalex.org/W4389568370, https://openalex.org/W3032375762, https://openalex.org/W1995515455, https://openalex.org/W2080531066, https://openalex.org/W3108674512, https://openalex.org/W1506200166 |
| cited_by_count | 0 |
| locations_count | 1 |
| best_oa_location.id | doi:10.21203/rs.3.rs-2251540/v1 |
| best_oa_location.is_oa | True |
| best_oa_location.source | |
| best_oa_location.license | cc-by |
| best_oa_location.pdf_url | https://www.researchsquare.com/article/rs-2251540/latest.pdf |
| best_oa_location.version | acceptedVersion |
| best_oa_location.raw_type | posted-content |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | False |
| best_oa_location.raw_source_name | |
| best_oa_location.landing_page_url | https://doi.org/10.21203/rs.3.rs-2251540/v1 |
| primary_location.id | doi:10.21203/rs.3.rs-2251540/v1 |
| primary_location.is_oa | True |
| primary_location.source | |
| primary_location.license | cc-by |
| primary_location.pdf_url | https://www.researchsquare.com/article/rs-2251540/latest.pdf |
| primary_location.version | acceptedVersion |
| primary_location.raw_type | posted-content |
| primary_location.license_id | https://openalex.org/licenses/cc-by |
| primary_location.is_accepted | True |
| primary_location.is_published | False |
| primary_location.raw_source_name | |
| primary_location.landing_page_url | https://doi.org/10.21203/rs.3.rs-2251540/v1 |
| publication_date | 2022-11-11 |
| publication_year | 2022 |
| referenced_works | https://openalex.org/W2028884725, https://openalex.org/W1133571833, https://openalex.org/W1977471472, https://openalex.org/W1932607529, https://openalex.org/W2103411226, https://openalex.org/W2888728741, https://openalex.org/W2091901950, https://openalex.org/W2766097594, https://openalex.org/W2782121072, https://openalex.org/W2121950137, https://openalex.org/W2771540396, https://openalex.org/W2345421927, https://openalex.org/W2043613746, https://openalex.org/W2128920869, https://openalex.org/W2904852423, https://openalex.org/W2950545834, https://openalex.org/W2072528447, https://openalex.org/W2133257334, https://openalex.org/W1971322148, https://openalex.org/W2892421646, https://openalex.org/W2952728907, https://openalex.org/W1991633140, https://openalex.org/W2051978340, https://openalex.org/W2521487197, https://openalex.org/W3011486391, https://openalex.org/W2619033859, https://openalex.org/W2588651330 |
| referenced_works_count | 27 |
| abstract_inverted_index.A | 39 |
| abstract_inverted_index.a | 13, 29, 54, 106, 145, 155, 171, 182 |
| abstract_inverted_index.62 | 179 |
| abstract_inverted_index.86 | 89 |
| abstract_inverted_index.ES | 103 |
| abstract_inverted_index.In | 148 |
| abstract_inverted_index.an | 22 |
| abstract_inverted_index.as | 26 |
| abstract_inverted_index.be | 43 |
| abstract_inverted_index.by | 59, 102 |
| abstract_inverted_index.in | 21, 45, 159, 168, 188, 201, 209, 219, 230 |
| abstract_inverted_index.is | 212, 227 |
| abstract_inverted_index.of | 5, 16, 28, 48, 116, 120, 134 |
| abstract_inverted_index.on | 66 |
| abstract_inverted_index.or | 25, 84, 165, 235 |
| abstract_inverted_index.to | 35, 97, 104, 114 |
| abstract_inverted_index.12% | 47 |
| abstract_inverted_index.36. | 189 |
| abstract_inverted_index.9%) | 194 |
| abstract_inverted_index.All | 190 |
| abstract_inverted_index.and | 8, 32, 100, 123, 125 |
| abstract_inverted_index.can | 19, 33, 42 |
| abstract_inverted_index.for | 128 |
| abstract_inverted_index.had | 154, 181, 195 |
| abstract_inverted_index.one | 169 |
| abstract_inverted_index.our | 214 |
| abstract_inverted_index.the | 6, 67, 117, 126, 149, 160, 206 |
| abstract_inverted_index.was | 64, 177, 186 |
| abstract_inverted_index.7/86 | 152 |
| abstract_inverted_index.This | 51 |
| abstract_inverted_index.data | 141 |
| abstract_inverted_index.lead | 34 |
| abstract_inverted_index.low, | 213 |
| abstract_inverted_index.only | 85, 236 |
| abstract_inverted_index.part | 27 |
| abstract_inverted_index.show | 12 |
| abstract_inverted_index.than | 229 |
| abstract_inverted_index.were | 94, 111, 138, 142 |
| abstract_inverted_index.with | 2, 92, 221, 232 |
| abstract_inverted_index.(ES). | 62 |
| abstract_inverted_index.17q12 | 172 |
| abstract_inverted_index.22%). | 204 |
| abstract_inverted_index.8/36, | 203 |
| abstract_inverted_index.CAKUT | 18, 56, 75, 93, 210 |
| abstract_inverted_index.broad | 14 |
| abstract_inverted_index.cases | 192 |
| abstract_inverted_index.cause | 41 |
| abstract_inverted_index.exome | 60 |
| abstract_inverted_index.genes | 161 |
| abstract_inverted_index.occur | 20 |
| abstract_inverted_index.rated | 112 |
| abstract_inverted_index.study | 52, 150 |
| abstract_inverted_index.that, | 218 |
| abstract_inverted_index.their | 98 |
| abstract_inverted_index.those | 231 |
| abstract_inverted_index.tract | 10, 87, 238 |
| abstract_inverted_index.using | 144 |
| abstract_inverted_index.which | 185 |
| abstract_inverted_index.yield | 71, 200, 208 |
| abstract_inverted_index.(8/86, | 193 |
| abstract_inverted_index.(e.g., | 77 |
| abstract_inverted_index.burden | 226 |
| abstract_inverted_index.cause. | 108 |
| abstract_inverted_index.cohort | 57 |
| abstract_inverted_index.higher | 228 |
| abstract_inverted_index.kidney | 7, 37, 79, 82, 183, 197, 223, 234 |
| abstract_inverted_index.placed | 65 |
| abstract_inverted_index.solved | 191 |
| abstract_inverted_index.yields | 133 |
| abstract_inverted_index.(CAKUT) | 11 |
| abstract_inverted_index.College | 119 |
| abstract_inverted_index.Genomic | 130 |
| abstract_inverted_index.Medical | 121 |
| abstract_inverted_index.argues, | 217 |
| abstract_inverted_index.between | 73 |
| abstract_inverted_index.certain | 74 |
| abstract_inverted_index.cohort, | 151 |
| abstract_inverted_index.cohorts | 211 |
| abstract_inverted_index.differs | 72 |
| abstract_inverted_index.fashion | 24 |
| abstract_inverted_index.urinary | 9, 86, 237 |
| abstract_inverted_index.variant | 158 |
| abstract_inverted_index.whether | 69 |
| abstract_inverted_index.(likely) | 156 |
| abstract_inverted_index.Although | 205 |
| abstract_inverted_index.American | 118 |
| abstract_inverted_index.Clinical | 129, 140 |
| abstract_inverted_index.Emphasis | 63 |
| abstract_inverted_index.Genetics | 122 |
| abstract_inverted_index.Genomics | 124 |
| abstract_inverted_index.Science. | 131 |
| abstract_inverted_index.affected | 49 |
| abstract_inverted_index.analyzed | 58, 101 |
| abstract_inverted_index.deletion | 173 |
| abstract_inverted_index.disorder | 31 |
| abstract_inverted_index.failure. | 38 |
| abstract_inverted_index.identify | 105 |
| abstract_inverted_index.isolated | 23 |
| abstract_inverted_index.question | 68 |
| abstract_inverted_index.spectrum | 15 |
| abstract_inverted_index.syndrome | 174 |
| abstract_inverted_index.variants | 110 |
| abstract_inverted_index.according | 96, 113 |
| abstract_inverted_index.affection | 83, 198 |
| abstract_inverted_index.anomalies | 4 |
| abstract_inverted_index.bilateral | 78, 187, 196, 222 |
| abstract_inverted_index.collected | 143 |
| abstract_inverted_index.compared. | 139 |
| abstract_inverted_index.detected. | 178 |
| abstract_inverted_index.different | 135 |
| abstract_inverted_index.end-stage | 36 |
| abstract_inverted_index.monogenic | 40, 107, 225 |
| abstract_inverted_index.phenotype | 99 |
| abstract_inverted_index.syndromic | 30 |
| abstract_inverted_index.unrelated | 90 |
| abstract_inverted_index.(including | 175 |
| abstract_inverted_index.Diagnostic | 132 |
| abstract_inverted_index.affection, | 80, 184, 224 |
| abstract_inverted_index.affection. | 239 |
| abstract_inverted_index.categories | 137 |
| abstract_inverted_index.congenital | 3 |
| abstract_inverted_index.diagnostic | 70, 207 |
| abstract_inverted_index.experience | 216 |
| abstract_inverted_index.identified | 44 |
| abstract_inverted_index.pathogenic | 157 |
| abstract_inverted_index.phenotypes | 76 |
| abstract_inverted_index.phenotypic | 136 |
| abstract_inverted_index.sequencing | 61 |
| abstract_inverted_index.subcohort: | 202 |
| abstract_inverted_index.unilateral | 81, 233 |
| abstract_inverted_index.(diagnostic | 199 |
| abstract_inverted_index.Association | 127 |
| abstract_inverted_index.Individuals | 1 |
| abstract_inverted_index.Prioritized | 109 |
| abstract_inverted_index.affection). | 88 |
| abstract_inverted_index.categorized | 95 |
| abstract_inverted_index.individual, | 170 |
| abstract_inverted_index.individuals | 91, 153, 180, 220 |
| abstract_inverted_index.individuals. | 50 |
| abstract_inverted_index.investigated | 53 |
| abstract_inverted_index.standardized | 146 |
| abstract_inverted_index.Additionally, | 167 |
| abstract_inverted_index.approximately | 46 |
| abstract_inverted_index.single-center | 55, 215 |
| abstract_inverted_index.malformations. | 17 |
| abstract_inverted_index.questionnaire. | 147 |
| abstract_inverted_index.recommendations | 115 |
| abstract_inverted_index.<italic>EYA1</italic> | 164 |
| abstract_inverted_index.<italic>PAX2</italic>, | 162 |
| abstract_inverted_index.<italic>PBX1</italic>, | 163 |
| abstract_inverted_index.<italic>HNF1B</italic>) | 176 |
| abstract_inverted_index.<italic>SALL1</italic>. | 166 |
| abstract_inverted_index.<title>Abstract</title> | 0 |
| cited_by_percentile_year | |
| corresponding_author_ids | https://openalex.org/A5045535986 |
| countries_distinct_count | 4 |
| institutions_distinct_count | 12 |
| corresponding_institution_ids | https://openalex.org/I2802619606, https://openalex.org/I285663978, https://openalex.org/I4210157357, https://openalex.org/I62916508 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.7300000190734863 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.13534917 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |