De novomutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay Article Swipe
Susan M. Hiatt
,
Matthew B. Neu
,
Ryne C. Ramaker
,
Andrew A. Hardigan
,
Jeremy W. Prokop
,
Miroslava Hančárová
,
Darina Prchalová
,
Markéta Havlovičová
,
Jan Prchal
,
Viktor Stránecký
,
Dwight K. C. Yim
,
Zöe Powis
,
Boris Keren
,
Caroline Nava
,
Cyril Mignot
,
Marlène Rio
,
Anya Revah‐Politi
,
Parisa Hemati
,
Nicholas Stong
,
Alejandro Iglesias
,
Sharon F. Suchy
,
Rebecca Willaert
,
Ingrid M. Wentzensen
,
Patricia G. Wheeler
,
Lauren Brick
,
Mariya Kozenko
,
Anna Hurst
,
James W. Wheless
,
Yves Lacassie
,
R Myers
,
Gregory S. Barsh
,
Zdeněk Sedláček
,
Gregory M. Cooper
·
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1101/378349
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1101/378349
Mutations that alter signaling of RAS/MAPK-family proteins give rise to a group of Mendelian diseases known as RASopathies, but the matrix of genotype-phenotype relationships is still incomplete, in part because there are many RAS-related proteins, and in part because the phenotypic consequences may be variable and/or pleiotropic. Here, we describe a cohort of ten cases, drawn from six clinical sites and over 16,000 sequenced probands, with de novo protein-altering variation in RALA , a RAS-like small GTPase. All probands present with speech and motor delays, and most have intellectual disability, low weight, short stature, and facial dysmorphism. The observed rate of de novo RALA variants in affected probands is significantly higher (p=4.93 × 10 −11 ) than expected from the estimated mutation rate. Further, all de novo variants described here affect conserved residues within the GTP/GDP-binding region of RALA ; in fact, six alleles arose at only two codons, Val25 and Lys128. We directly assayed GTP hydrolysis and RALA effector-protein binding, and all but one tested variant significantly reduced both activities. The one exception, S157A, reduced GTP hydrolysis but significantly increased RALA-effector binding, an observation similar to that seen for oncogenic RAS variants. These results show the power of data sharing for the interpretation and analysis of rare variation, expand the spectrum of molecular causes of developmental disability to include RALA , and provide additional insight into the pathogenesis of human disease caused by mutations in small GTPases. Author Summary While many causes of developmental disabilities have been identified, a large number of affected children cannot be diagnosed despite extensive medical testing. Previously unknown genetic factors are likely to be the culprits in many of these cases. Using DNA sequencing, and by sharing information among many doctors and researchers, we have identified a set of individuals with developmental problems who all have changes to the same gene, RALA. The affected individuals all have similar symptoms, including intellectual disability, speech delay (or no speech), and problems with motor skills like walking. In nearly all of these cases (10 of 11), the genetic change found in the child was not inherited from either parent. The locations and biological properties of these changes suggest that they are likely to disrupt the normal functions of RALA and cause significant health problems. We also performed experiments to show that the genetic changes found in these individuals alter two key functions of RALA. Together, we have provided evidence that genetic changes in RALA can cause DD/ID. These results will allow doctors and researchers to identify additional children with the same condition, providing a clinical diagnosis to these families and leading to new research opportunities.
Related Topics
Concepts
Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.1101/378349
- https://www.biorxiv.org/content/biorxiv/early/2018/07/29/378349.full.pdf
- OA Status
- green
- Cited By
- 3
- References
- 36
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2952453201
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W2952453201Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1101/378349Digital Object Identifier
- Title
-
De novomutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delayWork title
- Type
-
preprintOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2018Year of publication
- Publication date
-
2018-07-29Full publication date if available
- Authors
-
Susan M. Hiatt, Matthew B. Neu, Ryne C. Ramaker, Andrew A. Hardigan, Jeremy W. Prokop, Miroslava Hančárová, Darina Prchalová, Markéta Havlovičová, Jan Prchal, Viktor Stránecký, Dwight K. C. Yim, Zöe Powis, Boris Keren, Caroline Nava, Cyril Mignot, Marlène Rio, Anya Revah‐Politi, Parisa Hemati, Nicholas Stong, Alejandro Iglesias, Sharon F. Suchy, Rebecca Willaert, Ingrid M. Wentzensen, Patricia G. Wheeler, Lauren Brick, Mariya Kozenko, Anna Hurst, James W. Wheless, Yves Lacassie, R Myers, Gregory S. Barsh, Zdeněk Sedláček, Gregory M. CooperList of authors in order
- Landing page
-
https://doi.org/10.1101/378349Publisher landing page
- PDF URL
-
https://www.biorxiv.org/content/biorxiv/early/2018/07/29/378349.full.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://www.biorxiv.org/content/biorxiv/early/2018/07/29/378349.full.pdfDirect OA link when available
- Concepts
-
GTPase, Small GTPase, Biology, Genetics, GTP', Proband, Effector, Mutation, Phenotype, Allele, Signal transduction, Gene, Cell biology, Biochemistry, EnzymeTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
3Total citation count in OpenAlex
- Citations by year (recent)
-
2023: 1, 2022: 1, 2021: 1Per-year citation counts (last 5 years)
- References (count)
-
36Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W2952453201 |
|---|---|
| doi | https://doi.org/10.1101/378349 |
| ids.doi | https://doi.org/10.1101/378349 |
| ids.mag | 2952453201 |
| ids.openalex | https://openalex.org/W2952453201 |
| fwci | 0.14114053 |
| type | preprint |
| title | De novomutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay |
| biblio.issue | |
| biblio.volume | |
| biblio.last_page | |
| biblio.first_page | |
| topics[0].id | https://openalex.org/T10617 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9994000196456909 |
| topics[0].domain.id | https://openalex.org/domains/1 |
| topics[0].domain.display_name | Life Sciences |
| topics[0].subfield.id | https://openalex.org/subfields/1307 |
| topics[0].subfield.display_name | Cell Biology |
| topics[0].display_name | Cellular transport and secretion |
| topics[1].id | https://openalex.org/T12104 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9990000128746033 |
| 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 | Protein Tyrosine Phosphatases |
| topics[2].id | https://openalex.org/T10169 |
| topics[2].field.id | https://openalex.org/fields/13 |
| topics[2].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[2].score | 0.9986000061035156 |
| topics[2].domain.id | https://openalex.org/domains/1 |
| topics[2].domain.display_name | Life Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/1312 |
| topics[2].subfield.display_name | Molecular Biology |
| topics[2].display_name | Protein Kinase Regulation and GTPase Signaling |
| is_xpac | False |
| apc_list | |
| apc_paid | |
| concepts[0].id | https://openalex.org/C207332259 |
| concepts[0].level | 2 |
| concepts[0].score | 0.7820821404457092 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q769143 |
| concepts[0].display_name | GTPase |
| concepts[1].id | https://openalex.org/C2780298669 |
| concepts[1].level | 3 |
| concepts[1].score | 0.6306442618370056 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q415071 |
| concepts[1].display_name | Small GTPase |
| concepts[2].id | https://openalex.org/C86803240 |
| concepts[2].level | 0 |
| concepts[2].score | 0.6264580488204956 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[2].display_name | Biology |
| concepts[3].id | https://openalex.org/C54355233 |
| concepts[3].level | 1 |
| concepts[3].score | 0.6124045252799988 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[3].display_name | Genetics |
| concepts[4].id | https://openalex.org/C118716 |
| concepts[4].level | 3 |
| concepts[4].score | 0.5990435481071472 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q5514725 |
| concepts[4].display_name | GTP' |
| concepts[5].id | https://openalex.org/C188997412 |
| concepts[5].level | 4 |
| concepts[5].score | 0.5855918526649475 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q1640386 |
| concepts[5].display_name | Proband |
| concepts[6].id | https://openalex.org/C51785407 |
| concepts[6].level | 2 |
| concepts[6].score | 0.5367094278335571 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q2627568 |
| concepts[6].display_name | Effector |
| concepts[7].id | https://openalex.org/C501734568 |
| concepts[7].level | 3 |
| concepts[7].score | 0.43979811668395996 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q42918 |
| concepts[7].display_name | Mutation |
| concepts[8].id | https://openalex.org/C127716648 |
| concepts[8].level | 3 |
| concepts[8].score | 0.4325743317604065 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q104053 |
| concepts[8].display_name | Phenotype |
| concepts[9].id | https://openalex.org/C180754005 |
| concepts[9].level | 3 |
| concepts[9].score | 0.4171079993247986 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q80726 |
| concepts[9].display_name | Allele |
| concepts[10].id | https://openalex.org/C62478195 |
| concepts[10].level | 2 |
| concepts[10].score | 0.21659722924232483 |
| concepts[10].wikidata | https://www.wikidata.org/wiki/Q828130 |
| concepts[10].display_name | Signal transduction |
| concepts[11].id | https://openalex.org/C104317684 |
| concepts[11].level | 2 |
| concepts[11].score | 0.19682979583740234 |
| concepts[11].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[11].display_name | Gene |
| concepts[12].id | https://openalex.org/C95444343 |
| concepts[12].level | 1 |
| concepts[12].score | 0.1760663390159607 |
| concepts[12].wikidata | https://www.wikidata.org/wiki/Q7141 |
| concepts[12].display_name | Cell biology |
| concepts[13].id | https://openalex.org/C55493867 |
| concepts[13].level | 1 |
| concepts[13].score | 0.08975222706794739 |
| concepts[13].wikidata | https://www.wikidata.org/wiki/Q7094 |
| concepts[13].display_name | Biochemistry |
| concepts[14].id | https://openalex.org/C181199279 |
| concepts[14].level | 2 |
| concepts[14].score | 0.0 |
| concepts[14].wikidata | https://www.wikidata.org/wiki/Q8047 |
| concepts[14].display_name | Enzyme |
| keywords[0].id | https://openalex.org/keywords/gtpase |
| keywords[0].score | 0.7820821404457092 |
| keywords[0].display_name | GTPase |
| keywords[1].id | https://openalex.org/keywords/small-gtpase |
| keywords[1].score | 0.6306442618370056 |
| keywords[1].display_name | Small GTPase |
| keywords[2].id | https://openalex.org/keywords/biology |
| keywords[2].score | 0.6264580488204956 |
| keywords[2].display_name | Biology |
| keywords[3].id | https://openalex.org/keywords/genetics |
| keywords[3].score | 0.6124045252799988 |
| keywords[3].display_name | Genetics |
| keywords[4].id | https://openalex.org/keywords/gtp |
| keywords[4].score | 0.5990435481071472 |
| keywords[4].display_name | GTP' |
| keywords[5].id | https://openalex.org/keywords/proband |
| keywords[5].score | 0.5855918526649475 |
| keywords[5].display_name | Proband |
| keywords[6].id | https://openalex.org/keywords/effector |
| keywords[6].score | 0.5367094278335571 |
| keywords[6].display_name | Effector |
| keywords[7].id | https://openalex.org/keywords/mutation |
| keywords[7].score | 0.43979811668395996 |
| keywords[7].display_name | Mutation |
| keywords[8].id | https://openalex.org/keywords/phenotype |
| keywords[8].score | 0.4325743317604065 |
| keywords[8].display_name | Phenotype |
| keywords[9].id | https://openalex.org/keywords/allele |
| keywords[9].score | 0.4171079993247986 |
| keywords[9].display_name | Allele |
| keywords[10].id | https://openalex.org/keywords/signal-transduction |
| keywords[10].score | 0.21659722924232483 |
| keywords[10].display_name | Signal transduction |
| keywords[11].id | https://openalex.org/keywords/gene |
| keywords[11].score | 0.19682979583740234 |
| keywords[11].display_name | Gene |
| keywords[12].id | https://openalex.org/keywords/cell-biology |
| keywords[12].score | 0.1760663390159607 |
| keywords[12].display_name | Cell biology |
| keywords[13].id | https://openalex.org/keywords/biochemistry |
| keywords[13].score | 0.08975222706794739 |
| keywords[13].display_name | Biochemistry |
| language | en |
| locations[0].id | doi:10.1101/378349 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S4306402567 |
| locations[0].source.issn | |
| locations[0].source.type | repository |
| locations[0].source.is_oa | False |
| locations[0].source.issn_l | |
| locations[0].source.is_core | False |
| locations[0].source.is_in_doaj | False |
| locations[0].source.display_name | bioRxiv (Cold Spring Harbor Laboratory) |
| locations[0].source.host_organization | https://openalex.org/I2750212522 |
| locations[0].source.host_organization_name | Cold Spring Harbor Laboratory |
| locations[0].source.host_organization_lineage | https://openalex.org/I2750212522 |
| locations[0].license | cc-by-nd |
| locations[0].pdf_url | https://www.biorxiv.org/content/biorxiv/early/2018/07/29/378349.full.pdf |
| locations[0].version | acceptedVersion |
| locations[0].raw_type | posted-content |
| locations[0].license_id | https://openalex.org/licenses/cc-by-nd |
| locations[0].is_accepted | True |
| locations[0].is_published | False |
| locations[0].raw_source_name | |
| locations[0].landing_page_url | https://doi.org/10.1101/378349 |
| indexed_in | crossref |
| authorships[0].author.id | https://openalex.org/A5003876024 |
| authorships[0].author.orcid | https://orcid.org/0000-0001-5214-6747 |
| authorships[0].author.display_name | Susan M. Hiatt |
| authorships[0].countries | US |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[0].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA |
| authorships[0].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[0].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[0].institutions[0].type | nonprofit |
| authorships[0].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[0].institutions[0].country_code | US |
| authorships[0].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Susan M. Hiatt |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA |
| authorships[1].author.id | https://openalex.org/A5053279524 |
| authorships[1].author.orcid | https://orcid.org/0000-0003-0808-6921 |
| authorships[1].author.display_name | Matthew B. Neu |
| authorships[1].countries | US |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I32389192 |
| authorships[1].affiliations[0].raw_affiliation_string | Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA |
| authorships[1].affiliations[1].institution_ids | https://openalex.org/I4210145894 |
| authorships[1].affiliations[1].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA |
| authorships[1].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[1].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[1].institutions[0].type | nonprofit |
| authorships[1].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[1].institutions[0].country_code | US |
| authorships[1].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[1].institutions[1].id | https://openalex.org/I32389192 |
| authorships[1].institutions[1].ror | https://ror.org/008s83205 |
| authorships[1].institutions[1].type | education |
| authorships[1].institutions[1].lineage | https://openalex.org/I32389192 |
| authorships[1].institutions[1].country_code | US |
| authorships[1].institutions[1].display_name | University of Alabama at Birmingham |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Matthew B. Neu |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA |
| authorships[2].author.id | https://openalex.org/A5079770302 |
| authorships[2].author.orcid | https://orcid.org/0000-0001-8666-4841 |
| authorships[2].author.display_name | Ryne C. Ramaker |
| authorships[2].countries | US |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[2].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA |
| authorships[2].affiliations[1].institution_ids | https://openalex.org/I32389192 |
| authorships[2].affiliations[1].raw_affiliation_string | Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA |
| authorships[2].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[2].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[2].institutions[0].type | nonprofit |
| authorships[2].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[2].institutions[0].country_code | US |
| authorships[2].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[2].institutions[1].id | https://openalex.org/I32389192 |
| authorships[2].institutions[1].ror | https://ror.org/008s83205 |
| authorships[2].institutions[1].type | education |
| authorships[2].institutions[1].lineage | https://openalex.org/I32389192 |
| authorships[2].institutions[1].country_code | US |
| authorships[2].institutions[1].display_name | University of Alabama at Birmingham |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Ryne C. Ramaker |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA |
| authorships[3].author.id | https://openalex.org/A5041036600 |
| authorships[3].author.orcid | https://orcid.org/0000-0003-1770-2757 |
| authorships[3].author.display_name | Andrew A. Hardigan |
| authorships[3].countries | US |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I32389192 |
| authorships[3].affiliations[0].raw_affiliation_string | Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA |
| authorships[3].affiliations[1].institution_ids | https://openalex.org/I4210145894 |
| authorships[3].affiliations[1].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA |
| authorships[3].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[3].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[3].institutions[0].type | nonprofit |
| authorships[3].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[3].institutions[0].country_code | US |
| authorships[3].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[3].institutions[1].id | https://openalex.org/I32389192 |
| authorships[3].institutions[1].ror | https://ror.org/008s83205 |
| authorships[3].institutions[1].type | education |
| authorships[3].institutions[1].lineage | https://openalex.org/I32389192 |
| authorships[3].institutions[1].country_code | US |
| authorships[3].institutions[1].display_name | University of Alabama at Birmingham |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Andrew A. Hardigan |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA |
| authorships[4].author.id | https://openalex.org/A5083432017 |
| authorships[4].author.orcid | https://orcid.org/0000-0002-1818-9695 |
| authorships[4].author.display_name | Jeremy W. Prokop |
| authorships[4].countries | US |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I87216513 |
| authorships[4].affiliations[0].raw_affiliation_string | Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI, USA |
| authorships[4].institutions[0].id | https://openalex.org/I87216513 |
| authorships[4].institutions[0].ror | https://ror.org/05hs6h993 |
| authorships[4].institutions[0].type | education |
| authorships[4].institutions[0].lineage | https://openalex.org/I87216513 |
| authorships[4].institutions[0].country_code | US |
| authorships[4].institutions[0].display_name | Michigan State University |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Jeremy W. Prokop |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI, USA |
| authorships[5].author.id | https://openalex.org/A5073896215 |
| authorships[5].author.orcid | https://orcid.org/0000-0001-6772-8862 |
| authorships[5].author.display_name | Miroslava Hančárová |
| authorships[5].countries | CZ |
| authorships[5].affiliations[0].institution_ids | https://openalex.org/I21250087 |
| authorships[5].affiliations[0].raw_affiliation_string | Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic |
| authorships[5].institutions[0].id | https://openalex.org/I21250087 |
| authorships[5].institutions[0].ror | https://ror.org/024d6js02 |
| authorships[5].institutions[0].type | education |
| authorships[5].institutions[0].lineage | https://openalex.org/I21250087 |
| authorships[5].institutions[0].country_code | CZ |
| authorships[5].institutions[0].display_name | Charles University |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Miroslava Hancarova |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic |
| authorships[6].author.id | https://openalex.org/A5089897001 |
| authorships[6].author.orcid | https://orcid.org/0000-0002-3266-6523 |
| authorships[6].author.display_name | Darina Prchalová |
| authorships[6].countries | CZ |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I21250087 |
| authorships[6].affiliations[0].raw_affiliation_string | Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic |
| authorships[6].institutions[0].id | https://openalex.org/I21250087 |
| authorships[6].institutions[0].ror | https://ror.org/024d6js02 |
| authorships[6].institutions[0].type | education |
| authorships[6].institutions[0].lineage | https://openalex.org/I21250087 |
| authorships[6].institutions[0].country_code | CZ |
| authorships[6].institutions[0].display_name | Charles University |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Darina Prchalova |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic |
| authorships[7].author.id | https://openalex.org/A5057927621 |
| authorships[7].author.orcid | https://orcid.org/0000-0002-1477-8484 |
| authorships[7].author.display_name | Markéta Havlovičová |
| authorships[7].countries | CZ |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I21250087 |
| authorships[7].affiliations[0].raw_affiliation_string | Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic |
| authorships[7].institutions[0].id | https://openalex.org/I21250087 |
| authorships[7].institutions[0].ror | https://ror.org/024d6js02 |
| authorships[7].institutions[0].type | education |
| authorships[7].institutions[0].lineage | https://openalex.org/I21250087 |
| authorships[7].institutions[0].country_code | CZ |
| authorships[7].institutions[0].display_name | Charles University |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Marketa Havlovicova |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic |
| authorships[8].author.id | https://openalex.org/A5031003799 |
| authorships[8].author.orcid | https://orcid.org/0000-0002-3398-5059 |
| authorships[8].author.display_name | Jan Prchal |
| authorships[8].countries | CZ |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I9073902 |
| authorships[8].affiliations[0].raw_affiliation_string | Laboratory of NMR Spectroscopy, University of Chemistry and Technology, Prague, Czech Republic |
| authorships[8].institutions[0].id | https://openalex.org/I9073902 |
| authorships[8].institutions[0].ror | https://ror.org/05ggn0a85 |
| authorships[8].institutions[0].type | education |
| authorships[8].institutions[0].lineage | https://openalex.org/I9073902 |
| authorships[8].institutions[0].country_code | CZ |
| authorships[8].institutions[0].display_name | University of Chemistry and Technology, Prague |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Jan Prchal |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | Laboratory of NMR Spectroscopy, University of Chemistry and Technology, Prague, Czech Republic |
| authorships[9].author.id | https://openalex.org/A5010974782 |
| authorships[9].author.orcid | https://orcid.org/0000-0002-2599-6479 |
| authorships[9].author.display_name | Viktor Stránecký |
| authorships[9].countries | CZ |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I21250087 |
| authorships[9].affiliations[0].raw_affiliation_string | Department of Pediatrics and Adolescent Medicine, Diagnostic and Research Unit for Rare Diseases, Charles University 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic |
| authorships[9].institutions[0].id | https://openalex.org/I21250087 |
| authorships[9].institutions[0].ror | https://ror.org/024d6js02 |
| authorships[9].institutions[0].type | education |
| authorships[9].institutions[0].lineage | https://openalex.org/I21250087 |
| authorships[9].institutions[0].country_code | CZ |
| authorships[9].institutions[0].display_name | Charles University |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Viktor Stranecky |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Department of Pediatrics and Adolescent Medicine, Diagnostic and Research Unit for Rare Diseases, Charles University 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic |
| authorships[10].author.id | https://openalex.org/A5049191656 |
| authorships[10].author.orcid | |
| authorships[10].author.display_name | Dwight K. C. Yim |
| authorships[10].countries | US |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I1343052199 |
| authorships[10].affiliations[0].raw_affiliation_string | Kaiser Permanente-Hawaii, Honolulu, HI, USA |
| authorships[10].institutions[0].id | https://openalex.org/I1343052199 |
| authorships[10].institutions[0].ror | https://ror.org/00t60zh31 |
| authorships[10].institutions[0].type | nonprofit |
| authorships[10].institutions[0].lineage | https://openalex.org/I1343052199 |
| authorships[10].institutions[0].country_code | US |
| authorships[10].institutions[0].display_name | Kaiser Permanente |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Dwight K.C. Yim |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | Kaiser Permanente-Hawaii, Honolulu, HI, USA |
| authorships[11].author.id | https://openalex.org/A5021202240 |
| authorships[11].author.orcid | https://orcid.org/0000-0002-1347-4358 |
| authorships[11].author.display_name | Zöe Powis |
| authorships[11].countries | US |
| authorships[11].affiliations[0].institution_ids | https://openalex.org/I4210151459 |
| authorships[11].affiliations[0].raw_affiliation_string | Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA, USA |
| authorships[11].institutions[0].id | https://openalex.org/I4210151459 |
| authorships[11].institutions[0].ror | https://ror.org/051ae8e94 |
| authorships[11].institutions[0].type | company |
| authorships[11].institutions[0].lineage | https://openalex.org/I4210151459 |
| authorships[11].institutions[0].country_code | US |
| authorships[11].institutions[0].display_name | Ambry Genetics (United States) |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Zöe Powis |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA, USA |
| authorships[12].author.id | https://openalex.org/A5007008333 |
| authorships[12].author.orcid | https://orcid.org/0000-0001-6172-8247 |
| authorships[12].author.display_name | Boris Keren |
| authorships[12].countries | FR |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I39804081, https://openalex.org/I4210097159, https://openalex.org/I4210121705 |
| authorships[12].affiliations[0].raw_affiliation_string | Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France |
| authorships[12].institutions[0].id | https://openalex.org/I4210097159 |
| authorships[12].institutions[0].ror | https://ror.org/00pg5jh14 |
| authorships[12].institutions[0].type | healthcare |
| authorships[12].institutions[0].lineage | https://openalex.org/I4210097159 |
| authorships[12].institutions[0].country_code | FR |
| authorships[12].institutions[0].display_name | Assistance Publique – Hôpitaux de Paris |
| authorships[12].institutions[1].id | https://openalex.org/I4210121705 |
| authorships[12].institutions[1].ror | https://ror.org/02mh9a093 |
| authorships[12].institutions[1].type | healthcare |
| authorships[12].institutions[1].lineage | https://openalex.org/I4210097159, https://openalex.org/I4210121705 |
| authorships[12].institutions[1].country_code | FR |
| authorships[12].institutions[1].display_name | Pitié-Salpêtrière Hospital |
| authorships[12].institutions[2].id | https://openalex.org/I39804081 |
| authorships[12].institutions[2].ror | https://ror.org/02en5vm52 |
| authorships[12].institutions[2].type | education |
| authorships[12].institutions[2].lineage | https://openalex.org/I39804081 |
| authorships[12].institutions[2].country_code | FR |
| authorships[12].institutions[2].display_name | Sorbonne Université |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | Boris Keren |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France |
| authorships[13].author.id | https://openalex.org/A5034171757 |
| authorships[13].author.orcid | https://orcid.org/0000-0003-1272-0518 |
| authorships[13].author.display_name | Caroline Nava |
| authorships[13].countries | FR |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I39804081, https://openalex.org/I4210097159, https://openalex.org/I4210121705 |
| authorships[13].affiliations[0].raw_affiliation_string | Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France |
| authorships[13].institutions[0].id | https://openalex.org/I4210097159 |
| authorships[13].institutions[0].ror | https://ror.org/00pg5jh14 |
| authorships[13].institutions[0].type | healthcare |
| authorships[13].institutions[0].lineage | https://openalex.org/I4210097159 |
| authorships[13].institutions[0].country_code | FR |
| authorships[13].institutions[0].display_name | Assistance Publique – Hôpitaux de Paris |
| authorships[13].institutions[1].id | https://openalex.org/I4210121705 |
| authorships[13].institutions[1].ror | https://ror.org/02mh9a093 |
| authorships[13].institutions[1].type | healthcare |
| authorships[13].institutions[1].lineage | https://openalex.org/I4210097159, https://openalex.org/I4210121705 |
| authorships[13].institutions[1].country_code | FR |
| authorships[13].institutions[1].display_name | Pitié-Salpêtrière Hospital |
| authorships[13].institutions[2].id | https://openalex.org/I39804081 |
| authorships[13].institutions[2].ror | https://ror.org/02en5vm52 |
| authorships[13].institutions[2].type | education |
| authorships[13].institutions[2].lineage | https://openalex.org/I39804081 |
| authorships[13].institutions[2].country_code | FR |
| authorships[13].institutions[2].display_name | Sorbonne Université |
| authorships[13].author_position | middle |
| authorships[13].raw_author_name | Caroline Nava |
| authorships[13].is_corresponding | False |
| authorships[13].raw_affiliation_strings | Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France |
| authorships[14].author.id | https://openalex.org/A5075161655 |
| authorships[14].author.orcid | https://orcid.org/0000-0002-3462-3463 |
| authorships[14].author.display_name | Cyril Mignot |
| authorships[14].countries | FR |
| authorships[14].affiliations[0].raw_affiliation_string | Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France |
| authorships[14].affiliations[1].institution_ids | https://openalex.org/I39804081, https://openalex.org/I4210097159, https://openalex.org/I4210121705 |
| authorships[14].affiliations[1].raw_affiliation_string | Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France |
| authorships[14].affiliations[2].institution_ids | https://openalex.org/I39804081 |
| authorships[14].affiliations[2].raw_affiliation_string | Groupe de Recherche Clinique UPMC "Déficience Intellectuelle et Autisme", Paris, France |
| authorships[14].institutions[0].id | https://openalex.org/I4210097159 |
| authorships[14].institutions[0].ror | https://ror.org/00pg5jh14 |
| authorships[14].institutions[0].type | healthcare |
| authorships[14].institutions[0].lineage | https://openalex.org/I4210097159 |
| authorships[14].institutions[0].country_code | FR |
| authorships[14].institutions[0].display_name | Assistance Publique – Hôpitaux de Paris |
| authorships[14].institutions[1].id | https://openalex.org/I4210121705 |
| authorships[14].institutions[1].ror | https://ror.org/02mh9a093 |
| authorships[14].institutions[1].type | healthcare |
| authorships[14].institutions[1].lineage | https://openalex.org/I4210097159, https://openalex.org/I4210121705 |
| authorships[14].institutions[1].country_code | FR |
| authorships[14].institutions[1].display_name | Pitié-Salpêtrière Hospital |
| authorships[14].institutions[2].id | https://openalex.org/I39804081 |
| authorships[14].institutions[2].ror | https://ror.org/02en5vm52 |
| authorships[14].institutions[2].type | education |
| authorships[14].institutions[2].lineage | https://openalex.org/I39804081 |
| authorships[14].institutions[2].country_code | FR |
| authorships[14].institutions[2].display_name | Sorbonne Université |
| authorships[14].author_position | middle |
| authorships[14].raw_author_name | Cyril Mignot |
| authorships[14].is_corresponding | False |
| authorships[14].raw_affiliation_strings | Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France, Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France, Groupe de Recherche Clinique UPMC "Déficience Intellectuelle et Autisme", Paris, France |
| authorships[15].author.id | https://openalex.org/A5042370047 |
| authorships[15].author.orcid | https://orcid.org/0000-0003-2049-5058 |
| authorships[15].author.display_name | Marlène Rio |
| authorships[15].countries | FR |
| authorships[15].affiliations[0].institution_ids | https://openalex.org/I1288880153, https://openalex.org/I4210097159 |
| authorships[15].affiliations[0].raw_affiliation_string | Assistance Publique-Hôpitaux de Paris, service de Génétique, Hôpital Necker-Enfants-Malades, Paris, France |
| authorships[15].affiliations[1].raw_affiliation_string | Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France |
| authorships[15].institutions[0].id | https://openalex.org/I4210097159 |
| authorships[15].institutions[0].ror | https://ror.org/00pg5jh14 |
| authorships[15].institutions[0].type | healthcare |
| authorships[15].institutions[0].lineage | https://openalex.org/I4210097159 |
| authorships[15].institutions[0].country_code | FR |
| authorships[15].institutions[0].display_name | Assistance Publique – Hôpitaux de Paris |
| authorships[15].institutions[1].id | https://openalex.org/I1288880153 |
| authorships[15].institutions[1].ror | https://ror.org/05tr67282 |
| authorships[15].institutions[1].type | healthcare |
| authorships[15].institutions[1].lineage | https://openalex.org/I1288880153, https://openalex.org/I4210097159, https://openalex.org/I4210120235 |
| authorships[15].institutions[1].country_code | FR |
| authorships[15].institutions[1].display_name | Hôpital Necker-Enfants Malades |
| authorships[15].author_position | middle |
| authorships[15].raw_author_name | Marlene Rio |
| authorships[15].is_corresponding | False |
| authorships[15].raw_affiliation_strings | Assistance Publique-Hôpitaux de Paris, service de Génétique, Hôpital Necker-Enfants-Malades, Paris, France, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France |
| authorships[16].author.id | https://openalex.org/A5090135910 |
| authorships[16].author.orcid | https://orcid.org/0000-0002-3328-4252 |
| authorships[16].author.display_name | Anya Revah‐Politi |
| authorships[16].countries | US |
| authorships[16].affiliations[0].institution_ids | https://openalex.org/I2799503643 |
| authorships[16].affiliations[0].raw_affiliation_string | Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA |
| authorships[16].institutions[0].id | https://openalex.org/I2799503643 |
| authorships[16].institutions[0].ror | https://ror.org/01esghr10 |
| authorships[16].institutions[0].type | healthcare |
| authorships[16].institutions[0].lineage | https://openalex.org/I2799503643 |
| authorships[16].institutions[0].country_code | US |
| authorships[16].institutions[0].display_name | Columbia University Irving Medical Center |
| authorships[16].author_position | middle |
| authorships[16].raw_author_name | Anya Revah-Politi |
| authorships[16].is_corresponding | False |
| authorships[16].raw_affiliation_strings | Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA |
| authorships[17].author.id | https://openalex.org/A5087661446 |
| authorships[17].author.orcid | https://orcid.org/0000-0001-6347-552X |
| authorships[17].author.display_name | Parisa Hemati |
| authorships[17].countries | US |
| authorships[17].affiliations[0].institution_ids | https://openalex.org/I2799503643 |
| authorships[17].affiliations[0].raw_affiliation_string | Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA |
| authorships[17].institutions[0].id | https://openalex.org/I2799503643 |
| authorships[17].institutions[0].ror | https://ror.org/01esghr10 |
| authorships[17].institutions[0].type | healthcare |
| authorships[17].institutions[0].lineage | https://openalex.org/I2799503643 |
| authorships[17].institutions[0].country_code | US |
| authorships[17].institutions[0].display_name | Columbia University Irving Medical Center |
| authorships[17].author_position | middle |
| authorships[17].raw_author_name | Parisa Hemati |
| authorships[17].is_corresponding | False |
| authorships[17].raw_affiliation_strings | Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA |
| authorships[18].author.id | https://openalex.org/A5067492579 |
| authorships[18].author.orcid | https://orcid.org/0000-0002-0678-637X |
| authorships[18].author.display_name | Nicholas Stong |
| authorships[18].countries | US |
| authorships[18].affiliations[0].institution_ids | https://openalex.org/I2799503643 |
| authorships[18].affiliations[0].raw_affiliation_string | Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA |
| authorships[18].institutions[0].id | https://openalex.org/I2799503643 |
| authorships[18].institutions[0].ror | https://ror.org/01esghr10 |
| authorships[18].institutions[0].type | healthcare |
| authorships[18].institutions[0].lineage | https://openalex.org/I2799503643 |
| authorships[18].institutions[0].country_code | US |
| authorships[18].institutions[0].display_name | Columbia University Irving Medical Center |
| authorships[18].author_position | middle |
| authorships[18].raw_author_name | Nicholas Stong |
| authorships[18].is_corresponding | False |
| authorships[18].raw_affiliation_strings | Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA |
| authorships[19].author.id | https://openalex.org/A5053974795 |
| authorships[19].author.orcid | https://orcid.org/0000-0002-6487-436X |
| authorships[19].author.display_name | Alejandro Iglesias |
| authorships[19].countries | US |
| authorships[19].affiliations[0].institution_ids | https://openalex.org/I2799503643 |
| authorships[19].affiliations[0].raw_affiliation_string | Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA |
| authorships[19].institutions[0].id | https://openalex.org/I2799503643 |
| authorships[19].institutions[0].ror | https://ror.org/01esghr10 |
| authorships[19].institutions[0].type | healthcare |
| authorships[19].institutions[0].lineage | https://openalex.org/I2799503643 |
| authorships[19].institutions[0].country_code | US |
| authorships[19].institutions[0].display_name | Columbia University Irving Medical Center |
| authorships[19].author_position | middle |
| authorships[19].raw_author_name | Alejandro D. Iglesias |
| authorships[19].is_corresponding | False |
| authorships[19].raw_affiliation_strings | Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA |
| authorships[20].author.id | https://openalex.org/A5112421327 |
| authorships[20].author.orcid | |
| authorships[20].author.display_name | Sharon F. Suchy |
| authorships[20].affiliations[0].raw_affiliation_string | GeneDx, Gaithersburg, MD, USA |
| authorships[20].author_position | middle |
| authorships[20].raw_author_name | Sharon F. Suchy |
| authorships[20].is_corresponding | False |
| authorships[20].raw_affiliation_strings | GeneDx, Gaithersburg, MD, USA |
| authorships[21].author.id | https://openalex.org/A5074258822 |
| authorships[21].author.orcid | |
| authorships[21].author.display_name | Rebecca Willaert |
| authorships[21].affiliations[0].raw_affiliation_string | GeneDx, Gaithersburg, MD, USA |
| authorships[21].author_position | middle |
| authorships[21].raw_author_name | Rebecca Willaert |
| authorships[21].is_corresponding | False |
| authorships[21].raw_affiliation_strings | GeneDx, Gaithersburg, MD, USA |
| authorships[22].author.id | https://openalex.org/A5023701512 |
| authorships[22].author.orcid | https://orcid.org/0000-0001-6994-1640 |
| authorships[22].author.display_name | Ingrid M. Wentzensen |
| authorships[22].affiliations[0].raw_affiliation_string | GeneDx, Gaithersburg, MD, USA |
| authorships[22].author_position | middle |
| authorships[22].raw_author_name | Ingrid M. Wentzensen |
| authorships[22].is_corresponding | False |
| authorships[22].raw_affiliation_strings | GeneDx, Gaithersburg, MD, USA |
| authorships[23].author.id | https://openalex.org/A5028976486 |
| authorships[23].author.orcid | https://orcid.org/0000-0002-0156-2449 |
| authorships[23].author.display_name | Patricia G. Wheeler |
| authorships[23].countries | US |
| authorships[23].affiliations[0].institution_ids | https://openalex.org/I2800715904 |
| authorships[23].affiliations[0].raw_affiliation_string | Arnold Palmer Hospital, Division of Genetics, Orlando, FL, USA |
| authorships[23].institutions[0].id | https://openalex.org/I2800715904 |
| authorships[23].institutions[0].ror | https://ror.org/0086ms749 |
| authorships[23].institutions[0].type | healthcare |
| authorships[23].institutions[0].lineage | https://openalex.org/I147878501, https://openalex.org/I2800715904 |
| authorships[23].institutions[0].country_code | US |
| authorships[23].institutions[0].display_name | Arnold Palmer Hospital for Children |
| authorships[23].author_position | middle |
| authorships[23].raw_author_name | Patricia G. Wheeler |
| authorships[23].is_corresponding | False |
| authorships[23].raw_affiliation_strings | Arnold Palmer Hospital, Division of Genetics, Orlando, FL, USA |
| authorships[24].author.id | https://openalex.org/A5031468280 |
| authorships[24].author.orcid | https://orcid.org/0000-0001-5586-0284 |
| authorships[24].author.display_name | Lauren Brick |
| authorships[24].countries | CA |
| authorships[24].affiliations[0].institution_ids | https://openalex.org/I2801880889 |
| authorships[24].affiliations[0].raw_affiliation_string | Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada |
| authorships[24].institutions[0].id | https://openalex.org/I2801880889 |
| authorships[24].institutions[0].ror | https://ror.org/03cegwq60 |
| authorships[24].institutions[0].type | healthcare |
| authorships[24].institutions[0].lineage | https://openalex.org/I2801880889, https://openalex.org/I76442945 |
| authorships[24].institutions[0].country_code | CA |
| authorships[24].institutions[0].display_name | McMaster Children's Hospital |
| authorships[24].author_position | middle |
| authorships[24].raw_author_name | Lauren Brick |
| authorships[24].is_corresponding | False |
| authorships[24].raw_affiliation_strings | Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada |
| authorships[25].author.id | https://openalex.org/A5087907468 |
| authorships[25].author.orcid | |
| authorships[25].author.display_name | Mariya Kozenko |
| authorships[25].countries | CA |
| authorships[25].affiliations[0].institution_ids | https://openalex.org/I2801880889 |
| authorships[25].affiliations[0].raw_affiliation_string | Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada |
| authorships[25].institutions[0].id | https://openalex.org/I2801880889 |
| authorships[25].institutions[0].ror | https://ror.org/03cegwq60 |
| authorships[25].institutions[0].type | healthcare |
| authorships[25].institutions[0].lineage | https://openalex.org/I2801880889, https://openalex.org/I76442945 |
| authorships[25].institutions[0].country_code | CA |
| authorships[25].institutions[0].display_name | McMaster Children's Hospital |
| authorships[25].author_position | middle |
| authorships[25].raw_author_name | Mariya Kozenko |
| authorships[25].is_corresponding | False |
| authorships[25].raw_affiliation_strings | Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada |
| authorships[26].author.id | https://openalex.org/A5103062598 |
| authorships[26].author.orcid | https://orcid.org/0000-0002-9765-9703 |
| authorships[26].author.display_name | Anna Hurst |
| authorships[26].countries | US |
| authorships[26].affiliations[0].institution_ids | https://openalex.org/I32389192 |
| authorships[26].affiliations[0].raw_affiliation_string | Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA |
| authorships[26].institutions[0].id | https://openalex.org/I32389192 |
| authorships[26].institutions[0].ror | https://ror.org/008s83205 |
| authorships[26].institutions[0].type | education |
| authorships[26].institutions[0].lineage | https://openalex.org/I32389192 |
| authorships[26].institutions[0].country_code | US |
| authorships[26].institutions[0].display_name | University of Alabama at Birmingham |
| authorships[26].author_position | middle |
| authorships[26].raw_author_name | Anna C.E. Hurst |
| authorships[26].is_corresponding | False |
| authorships[26].raw_affiliation_strings | Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA |
| authorships[27].author.id | https://openalex.org/A5032129336 |
| authorships[27].author.orcid | https://orcid.org/0000-0002-4735-3431 |
| authorships[27].author.display_name | James W. Wheless |
| authorships[27].countries | US |
| authorships[27].affiliations[0].institution_ids | https://openalex.org/I160606119 |
| authorships[27].affiliations[0].raw_affiliation_string | Division of Pediatric Neurology, University of Tennessee Health Science Center, Neuroscience Institute & Le Bonheur Comprehensive Epilepsy Program, Memphis, TN, USA |
| authorships[27].affiliations[1].institution_ids | https://openalex.org/I4210156806 |
| authorships[27].affiliations[1].raw_affiliation_string | Le Bonheur Children's Hospital, Memphis, TN, USA |
| authorships[27].institutions[0].id | https://openalex.org/I4210156806 |
| authorships[27].institutions[0].ror | https://ror.org/056wg8a82 |
| authorships[27].institutions[0].type | healthcare |
| authorships[27].institutions[0].lineage | https://openalex.org/I4210156806 |
| authorships[27].institutions[0].country_code | US |
| authorships[27].institutions[0].display_name | Le Bonheur Children's Hospital |
| authorships[27].institutions[1].id | https://openalex.org/I160606119 |
| authorships[27].institutions[1].ror | https://ror.org/0011qv509 |
| authorships[27].institutions[1].type | education |
| authorships[27].institutions[1].lineage | https://openalex.org/I160606119 |
| authorships[27].institutions[1].country_code | US |
| authorships[27].institutions[1].display_name | University of Tennessee Health Science Center |
| authorships[27].author_position | middle |
| authorships[27].raw_author_name | James W. Wheless |
| authorships[27].is_corresponding | False |
| authorships[27].raw_affiliation_strings | Division of Pediatric Neurology, University of Tennessee Health Science Center, Neuroscience Institute & Le Bonheur Comprehensive Epilepsy Program, Memphis, TN, USA, Le Bonheur Children's Hospital, Memphis, TN, USA |
| authorships[28].author.id | https://openalex.org/A5065728429 |
| authorships[28].author.orcid | https://orcid.org/0000-0002-6231-4967 |
| authorships[28].author.display_name | Yves Lacassie |
| authorships[28].countries | US |
| authorships[28].affiliations[0].institution_ids | https://openalex.org/I4210117366 |
| authorships[28].affiliations[0].raw_affiliation_string | Department of Genetics, Children's Hospital, New Orleans, LA, USA |
| authorships[28].affiliations[1].institution_ids | https://openalex.org/I75420490 |
| authorships[28].affiliations[1].raw_affiliation_string | Division of Clinical Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, USA |
| authorships[28].institutions[0].id | https://openalex.org/I4210117366 |
| authorships[28].institutions[0].ror | https://ror.org/02etexs15 |
| authorships[28].institutions[0].type | healthcare |
| authorships[28].institutions[0].lineage | https://openalex.org/I4210117366 |
| authorships[28].institutions[0].country_code | US |
| authorships[28].institutions[0].display_name | Children's Hospital of New Orleans |
| authorships[28].institutions[1].id | https://openalex.org/I75420490 |
| authorships[28].institutions[1].ror | https://ror.org/01qv8fp92 |
| authorships[28].institutions[1].type | education |
| authorships[28].institutions[1].lineage | https://openalex.org/I75420490 |
| authorships[28].institutions[1].country_code | US |
| authorships[28].institutions[1].display_name | Louisiana State University Health Sciences Center New Orleans |
| authorships[28].author_position | middle |
| authorships[28].raw_author_name | Yves Lacassie |
| authorships[28].is_corresponding | False |
| authorships[28].raw_affiliation_strings | Department of Genetics, Children's Hospital, New Orleans, LA, USA, Division of Clinical Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, USA |
| authorships[29].author.id | https://openalex.org/A5016212527 |
| authorships[29].author.orcid | https://orcid.org/0000-0001-9701-676X |
| authorships[29].author.display_name | R Myers |
| authorships[29].countries | US |
| authorships[29].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[29].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA |
| authorships[29].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[29].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[29].institutions[0].type | nonprofit |
| authorships[29].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[29].institutions[0].country_code | US |
| authorships[29].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[29].author_position | middle |
| authorships[29].raw_author_name | Richard M. Myers |
| authorships[29].is_corresponding | False |
| authorships[29].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA |
| authorships[30].author.id | https://openalex.org/A5033517921 |
| authorships[30].author.orcid | https://orcid.org/0000-0002-0838-1042 |
| authorships[30].author.display_name | Gregory S. Barsh |
| authorships[30].countries | US |
| authorships[30].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[30].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA |
| authorships[30].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[30].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[30].institutions[0].type | nonprofit |
| authorships[30].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[30].institutions[0].country_code | US |
| authorships[30].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[30].author_position | middle |
| authorships[30].raw_author_name | Gregory S. Barsh |
| authorships[30].is_corresponding | False |
| authorships[30].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA |
| authorships[31].author.id | https://openalex.org/A5001533302 |
| authorships[31].author.orcid | https://orcid.org/0000-0001-6575-9163 |
| authorships[31].author.display_name | Zdeněk Sedláček |
| authorships[31].countries | CZ |
| authorships[31].affiliations[0].institution_ids | https://openalex.org/I21250087 |
| authorships[31].affiliations[0].raw_affiliation_string | Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic |
| authorships[31].institutions[0].id | https://openalex.org/I21250087 |
| authorships[31].institutions[0].ror | https://ror.org/024d6js02 |
| authorships[31].institutions[0].type | education |
| authorships[31].institutions[0].lineage | https://openalex.org/I21250087 |
| authorships[31].institutions[0].country_code | CZ |
| authorships[31].institutions[0].display_name | Charles University |
| authorships[31].author_position | middle |
| authorships[31].raw_author_name | Zdenek Sedlacek |
| authorships[31].is_corresponding | False |
| authorships[31].raw_affiliation_strings | Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic |
| authorships[32].author.id | https://openalex.org/A5027561780 |
| authorships[32].author.orcid | https://orcid.org/0000-0001-5509-9923 |
| authorships[32].author.display_name | Gregory M. Cooper |
| authorships[32].countries | US |
| authorships[32].affiliations[0].institution_ids | https://openalex.org/I4210145894 |
| authorships[32].affiliations[0].raw_affiliation_string | HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA |
| authorships[32].institutions[0].id | https://openalex.org/I4210145894 |
| authorships[32].institutions[0].ror | https://ror.org/04nz0wq19 |
| authorships[32].institutions[0].type | nonprofit |
| authorships[32].institutions[0].lineage | https://openalex.org/I4210145894 |
| authorships[32].institutions[0].country_code | US |
| authorships[32].institutions[0].display_name | HudsonAlpha Institute for Biotechnology |
| authorships[32].author_position | last |
| authorships[32].raw_author_name | Gregory M. Cooper |
| authorships[32].is_corresponding | True |
| authorships[32].raw_affiliation_strings | HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://www.biorxiv.org/content/biorxiv/early/2018/07/29/378349.full.pdf |
| open_access.oa_status | green |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | De novomutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay |
| has_fulltext | True |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T10617 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9994000196456909 |
| primary_topic.domain.id | https://openalex.org/domains/1 |
| primary_topic.domain.display_name | Life Sciences |
| primary_topic.subfield.id | https://openalex.org/subfields/1307 |
| primary_topic.subfield.display_name | Cell Biology |
| primary_topic.display_name | Cellular transport and secretion |
| related_works | https://openalex.org/W2276183529, https://openalex.org/W2769412055, https://openalex.org/W4393853774, https://openalex.org/W2008470784, https://openalex.org/W2072932710, https://openalex.org/W1570552209, https://openalex.org/W1976401619, https://openalex.org/W4383058836, https://openalex.org/W4252474963, https://openalex.org/W83158222 |
| cited_by_count | 3 |
| counts_by_year[0].year | 2023 |
| counts_by_year[0].cited_by_count | 1 |
| counts_by_year[1].year | 2022 |
| counts_by_year[1].cited_by_count | 1 |
| counts_by_year[2].year | 2021 |
| counts_by_year[2].cited_by_count | 1 |
| locations_count | 1 |
| best_oa_location.id | doi:10.1101/378349 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S4306402567 |
| best_oa_location.source.issn | |
| best_oa_location.source.type | repository |
| best_oa_location.source.is_oa | False |
| best_oa_location.source.issn_l | |
| best_oa_location.source.is_core | False |
| best_oa_location.source.is_in_doaj | False |
| best_oa_location.source.display_name | bioRxiv (Cold Spring Harbor Laboratory) |
| best_oa_location.source.host_organization | https://openalex.org/I2750212522 |
| best_oa_location.source.host_organization_name | Cold Spring Harbor Laboratory |
| best_oa_location.source.host_organization_lineage | https://openalex.org/I2750212522 |
| best_oa_location.license | cc-by-nd |
| best_oa_location.pdf_url | https://www.biorxiv.org/content/biorxiv/early/2018/07/29/378349.full.pdf |
| best_oa_location.version | acceptedVersion |
| best_oa_location.raw_type | posted-content |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by-nd |
| 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/10.1101/378349 |
| primary_location.id | doi:10.1101/378349 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S4306402567 |
| primary_location.source.issn | |
| primary_location.source.type | repository |
| primary_location.source.is_oa | False |
| primary_location.source.issn_l | |
| primary_location.source.is_core | False |
| primary_location.source.is_in_doaj | False |
| primary_location.source.display_name | bioRxiv (Cold Spring Harbor Laboratory) |
| primary_location.source.host_organization | https://openalex.org/I2750212522 |
| primary_location.source.host_organization_name | Cold Spring Harbor Laboratory |
| primary_location.source.host_organization_lineage | https://openalex.org/I2750212522 |
| primary_location.license | cc-by-nd |
| primary_location.pdf_url | https://www.biorxiv.org/content/biorxiv/early/2018/07/29/378349.full.pdf |
| primary_location.version | acceptedVersion |
| primary_location.raw_type | posted-content |
| primary_location.license_id | https://openalex.org/licenses/cc-by-nd |
| primary_location.is_accepted | True |
| primary_location.is_published | False |
| primary_location.raw_source_name | |
| primary_location.landing_page_url | https://doi.org/10.1101/378349 |
| publication_date | 2018-07-29 |
| publication_year | 2018 |
| referenced_works | https://openalex.org/W2040030455, https://openalex.org/W2138956466, https://openalex.org/W1764005853, https://openalex.org/W2800119958, https://openalex.org/W2732767128, https://openalex.org/W2712099391, https://openalex.org/W2610390638, https://openalex.org/W1808711893, https://openalex.org/W2160995259, https://openalex.org/W2256016639, https://openalex.org/W2536106356, https://openalex.org/W1985501548, https://openalex.org/W2100469448, https://openalex.org/W2243692560, https://openalex.org/W1593983451, https://openalex.org/W2138014988, https://openalex.org/W1964426200, https://openalex.org/W2166692731, https://openalex.org/W2053733865, https://openalex.org/W2122473049, https://openalex.org/W2598042332, https://openalex.org/W1554963423, https://openalex.org/W2043227433, https://openalex.org/W2051978340, https://openalex.org/W2351765795, https://openalex.org/W6738012370, https://openalex.org/W1980704197, https://openalex.org/W2028332900, https://openalex.org/W2118947728, https://openalex.org/W2132206752, https://openalex.org/W2005984686, https://openalex.org/W2089693284, https://openalex.org/W2109718825, https://openalex.org/W1974666851, https://openalex.org/W2588186785, https://openalex.org/W2613629789 |
| referenced_works_count | 36 |
| abstract_inverted_index.) | 116 |
| abstract_inverted_index., | 73, 222 |
| abstract_inverted_index.; | 140 |
| abstract_inverted_index.a | 11, 51, 74, 250, 293, 427 |
| abstract_inverted_index.10 | 114 |
| abstract_inverted_index.In | 331 |
| abstract_inverted_index.We | 153, 378 |
| abstract_inverted_index.an | 184 |
| abstract_inverted_index.as | 17 |
| abstract_inverted_index.at | 146 |
| abstract_inverted_index.be | 44, 257, 270 |
| abstract_inverted_index.by | 234, 282 |
| abstract_inverted_index.de | 67, 102, 126 |
| abstract_inverted_index.in | 28, 37, 71, 106, 141, 236, 273, 344, 389, 406 |
| abstract_inverted_index.is | 25, 109 |
| abstract_inverted_index.no | 322 |
| abstract_inverted_index.of | 5, 13, 22, 53, 101, 138, 199, 207, 213, 216, 230, 244, 253, 275, 295, 334, 338, 358, 371, 396 |
| abstract_inverted_index.to | 10, 187, 219, 269, 304, 366, 382, 418, 430, 435 |
| abstract_inverted_index.we | 49, 290, 399 |
| abstract_inverted_index.× | 113 |
| abstract_inverted_index.(10 | 337 |
| abstract_inverted_index.(or | 321 |
| abstract_inverted_index.All | 78 |
| abstract_inverted_index.DNA | 279 |
| abstract_inverted_index.GTP | 156, 177 |
| abstract_inverted_index.RAS | 192 |
| abstract_inverted_index.The | 98, 172, 309, 353 |
| abstract_inverted_index.all | 125, 163, 301, 312, 333 |
| abstract_inverted_index.and | 36, 61, 83, 86, 95, 151, 158, 162, 205, 223, 281, 288, 324, 355, 373, 416, 433 |
| abstract_inverted_index.are | 32, 267, 364 |
| abstract_inverted_index.but | 19, 164, 179 |
| abstract_inverted_index.can | 408 |
| abstract_inverted_index.for | 190, 202 |
| abstract_inverted_index.key | 394 |
| abstract_inverted_index.low | 91 |
| abstract_inverted_index.may | 43 |
| abstract_inverted_index.new | 436 |
| abstract_inverted_index.not | 348 |
| abstract_inverted_index.one | 165, 173 |
| abstract_inverted_index.set | 294 |
| abstract_inverted_index.six | 58, 143 |
| abstract_inverted_index.ten | 54 |
| abstract_inverted_index.the | 20, 40, 120, 135, 197, 203, 211, 228, 271, 305, 340, 345, 368, 385, 423 |
| abstract_inverted_index.two | 148, 393 |
| abstract_inverted_index.was | 347 |
| abstract_inverted_index.who | 300 |
| abstract_inverted_index.11), | 339 |
| abstract_inverted_index.RALA | 72, 104, 139, 159, 221, 372, 407 |
| abstract_inverted_index.also | 379 |
| abstract_inverted_index.been | 248 |
| abstract_inverted_index.both | 170 |
| abstract_inverted_index.data | 200 |
| abstract_inverted_index.from | 57, 119, 350 |
| abstract_inverted_index.give | 8 |
| abstract_inverted_index.have | 88, 247, 291, 302, 313, 400 |
| abstract_inverted_index.here | 130 |
| abstract_inverted_index.into | 227 |
| abstract_inverted_index.like | 329 |
| abstract_inverted_index.many | 33, 242, 274, 286 |
| abstract_inverted_index.most | 87 |
| abstract_inverted_index.novo | 68, 103, 127 |
| abstract_inverted_index.only | 147 |
| abstract_inverted_index.over | 62 |
| abstract_inverted_index.part | 29, 38 |
| abstract_inverted_index.rare | 208 |
| abstract_inverted_index.rate | 100 |
| abstract_inverted_index.rise | 9 |
| abstract_inverted_index.same | 306, 424 |
| abstract_inverted_index.seen | 189 |
| abstract_inverted_index.show | 196, 383 |
| abstract_inverted_index.than | 117 |
| abstract_inverted_index.that | 2, 188, 362, 384, 403 |
| abstract_inverted_index.they | 363 |
| abstract_inverted_index.will | 413 |
| abstract_inverted_index.with | 66, 81, 297, 326, 422 |
| abstract_inverted_index.Here, | 48 |
| abstract_inverted_index.RALA. | 308, 397 |
| abstract_inverted_index.These | 194, 411 |
| abstract_inverted_index.Using | 278 |
| abstract_inverted_index.Val25 | 150 |
| abstract_inverted_index.While | 241 |
| abstract_inverted_index.allow | 414 |
| abstract_inverted_index.alter | 3, 392 |
| abstract_inverted_index.among | 285 |
| abstract_inverted_index.arose | 145 |
| abstract_inverted_index.cases | 336 |
| abstract_inverted_index.cause | 374, 409 |
| abstract_inverted_index.child | 346 |
| abstract_inverted_index.delay | 320 |
| abstract_inverted_index.drawn | 56 |
| abstract_inverted_index.fact, | 142 |
| abstract_inverted_index.found | 343, 388 |
| abstract_inverted_index.gene, | 307 |
| abstract_inverted_index.group | 12 |
| abstract_inverted_index.human | 231 |
| abstract_inverted_index.known | 16 |
| abstract_inverted_index.large | 251 |
| abstract_inverted_index.motor | 84, 327 |
| abstract_inverted_index.power | 198 |
| abstract_inverted_index.rate. | 123 |
| abstract_inverted_index.short | 93 |
| abstract_inverted_index.sites | 60 |
| abstract_inverted_index.small | 76, 237 |
| abstract_inverted_index.still | 26 |
| abstract_inverted_index.there | 31 |
| abstract_inverted_index.these | 276, 335, 359, 390, 431 |
| abstract_inverted_index.−11 | 115 |
| abstract_inverted_index.16,000 | 63 |
| abstract_inverted_index.Author | 239 |
| abstract_inverted_index.DD/ID. | 410 |
| abstract_inverted_index.S157A, | 175 |
| abstract_inverted_index.affect | 131 |
| abstract_inverted_index.and/or | 46 |
| abstract_inverted_index.cannot | 256 |
| abstract_inverted_index.cases, | 55 |
| abstract_inverted_index.cases. | 277 |
| abstract_inverted_index.caused | 233 |
| abstract_inverted_index.causes | 215, 243 |
| abstract_inverted_index.change | 342 |
| abstract_inverted_index.cohort | 52 |
| abstract_inverted_index.either | 351 |
| abstract_inverted_index.expand | 210 |
| abstract_inverted_index.facial | 96 |
| abstract_inverted_index.health | 376 |
| abstract_inverted_index.higher | 111 |
| abstract_inverted_index.likely | 268, 365 |
| abstract_inverted_index.matrix | 21 |
| abstract_inverted_index.nearly | 332 |
| abstract_inverted_index.normal | 369 |
| abstract_inverted_index.number | 252 |
| abstract_inverted_index.region | 137 |
| abstract_inverted_index.skills | 328 |
| abstract_inverted_index.speech | 82, 319 |
| abstract_inverted_index.tested | 166 |
| abstract_inverted_index.within | 134 |
| abstract_inverted_index.(p=4.93 | 112 |
| abstract_inverted_index.GTPase. | 77 |
| abstract_inverted_index.Lys128. | 152 |
| abstract_inverted_index.Summary | 240 |
| abstract_inverted_index.alleles | 144 |
| abstract_inverted_index.assayed | 155 |
| abstract_inverted_index.because | 30, 39 |
| abstract_inverted_index.changes | 303, 360, 387, 405 |
| abstract_inverted_index.codons, | 149 |
| abstract_inverted_index.delays, | 85 |
| abstract_inverted_index.despite | 259 |
| abstract_inverted_index.disease | 232 |
| abstract_inverted_index.disrupt | 367 |
| abstract_inverted_index.doctors | 287, 415 |
| abstract_inverted_index.factors | 266 |
| abstract_inverted_index.genetic | 265, 341, 386, 404 |
| abstract_inverted_index.include | 220 |
| abstract_inverted_index.insight | 226 |
| abstract_inverted_index.leading | 434 |
| abstract_inverted_index.medical | 261 |
| abstract_inverted_index.parent. | 352 |
| abstract_inverted_index.present | 80 |
| abstract_inverted_index.provide | 224 |
| abstract_inverted_index.reduced | 169, 176 |
| abstract_inverted_index.results | 195, 412 |
| abstract_inverted_index.sharing | 201, 283 |
| abstract_inverted_index.similar | 186, 314 |
| abstract_inverted_index.suggest | 361 |
| abstract_inverted_index.unknown | 264 |
| abstract_inverted_index.variant | 167 |
| abstract_inverted_index.weight, | 92 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.Further, | 124 |
| abstract_inverted_index.GTPases. | 238 |
| abstract_inverted_index.RAS-like | 75 |
| abstract_inverted_index.affected | 107, 254, 310 |
| abstract_inverted_index.analysis | 206 |
| abstract_inverted_index.binding, | 161, 183 |
| abstract_inverted_index.children | 255, 421 |
| abstract_inverted_index.clinical | 59, 428 |
| abstract_inverted_index.culprits | 272 |
| abstract_inverted_index.describe | 50 |
| abstract_inverted_index.directly | 154 |
| abstract_inverted_index.diseases | 15 |
| abstract_inverted_index.evidence | 402 |
| abstract_inverted_index.expected | 118 |
| abstract_inverted_index.families | 432 |
| abstract_inverted_index.identify | 419 |
| abstract_inverted_index.mutation | 122 |
| abstract_inverted_index.observed | 99 |
| abstract_inverted_index.probands | 79, 108 |
| abstract_inverted_index.problems | 299, 325 |
| abstract_inverted_index.proteins | 7 |
| abstract_inverted_index.provided | 401 |
| abstract_inverted_index.research | 437 |
| abstract_inverted_index.residues | 133 |
| abstract_inverted_index.spectrum | 212 |
| abstract_inverted_index.speech), | 323 |
| abstract_inverted_index.stature, | 94 |
| abstract_inverted_index.testing. | 262 |
| abstract_inverted_index.variable | 45 |
| abstract_inverted_index.variants | 105, 128 |
| abstract_inverted_index.walking. | 330 |
| abstract_inverted_index.Mendelian | 14 |
| abstract_inverted_index.Mutations | 1 |
| abstract_inverted_index.Together, | 398 |
| abstract_inverted_index.conserved | 132 |
| abstract_inverted_index.described | 129 |
| abstract_inverted_index.diagnosed | 258 |
| abstract_inverted_index.diagnosis | 429 |
| abstract_inverted_index.estimated | 121 |
| abstract_inverted_index.extensive | 260 |
| abstract_inverted_index.functions | 370, 395 |
| abstract_inverted_index.including | 316 |
| abstract_inverted_index.increased | 181 |
| abstract_inverted_index.inherited | 349 |
| abstract_inverted_index.locations | 354 |
| abstract_inverted_index.molecular | 214 |
| abstract_inverted_index.mutations | 235 |
| abstract_inverted_index.oncogenic | 191 |
| abstract_inverted_index.performed | 380 |
| abstract_inverted_index.probands, | 65 |
| abstract_inverted_index.problems. | 377 |
| abstract_inverted_index.proteins, | 35 |
| abstract_inverted_index.providing | 426 |
| abstract_inverted_index.sequenced | 64 |
| abstract_inverted_index.signaling | 4 |
| abstract_inverted_index.symptoms, | 315 |
| abstract_inverted_index.variants. | 193 |
| abstract_inverted_index.variation | 70 |
| abstract_inverted_index.Previously | 263 |
| abstract_inverted_index.additional | 225, 420 |
| abstract_inverted_index.biological | 356 |
| abstract_inverted_index.condition, | 425 |
| abstract_inverted_index.disability | 218 |
| abstract_inverted_index.exception, | 174 |
| abstract_inverted_index.hydrolysis | 157, 178 |
| abstract_inverted_index.identified | 292 |
| abstract_inverted_index.phenotypic | 41 |
| abstract_inverted_index.properties | 357 |
| abstract_inverted_index.variation, | 209 |
| abstract_inverted_index.RAS-related | 34 |
| abstract_inverted_index.activities. | 171 |
| abstract_inverted_index.disability, | 90, 318 |
| abstract_inverted_index.experiments | 381 |
| abstract_inverted_index.identified, | 249 |
| abstract_inverted_index.incomplete, | 27 |
| abstract_inverted_index.individuals | 296, 311, 391 |
| abstract_inverted_index.information | 284 |
| abstract_inverted_index.observation | 185 |
| abstract_inverted_index.researchers | 417 |
| abstract_inverted_index.sequencing, | 280 |
| abstract_inverted_index.significant | 375 |
| abstract_inverted_index.RASopathies, | 18 |
| abstract_inverted_index.consequences | 42 |
| abstract_inverted_index.disabilities | 246 |
| abstract_inverted_index.dysmorphism. | 97 |
| abstract_inverted_index.intellectual | 89, 317 |
| abstract_inverted_index.pathogenesis | 229 |
| abstract_inverted_index.pleiotropic. | 47 |
| abstract_inverted_index.researchers, | 289 |
| abstract_inverted_index.RALA-effector | 182 |
| abstract_inverted_index.developmental | 217, 245, 298 |
| abstract_inverted_index.relationships | 24 |
| abstract_inverted_index.significantly | 110, 168, 180 |
| abstract_inverted_index.interpretation | 204 |
| abstract_inverted_index.opportunities. | 438 |
| abstract_inverted_index.GTP/GDP-binding | 136 |
| abstract_inverted_index.RAS/MAPK-family | 6 |
| abstract_inverted_index.effector-protein | 160 |
| abstract_inverted_index.protein-altering | 69 |
| abstract_inverted_index.genotype-phenotype | 23 |
| cited_by_percentile_year.max | 94 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5027561780 |
| countries_distinct_count | 4 |
| institutions_distinct_count | 33 |
| corresponding_institution_ids | https://openalex.org/I4210145894 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/4 |
| sustainable_development_goals[0].score | 0.6200000047683716 |
| sustainable_development_goals[0].display_name | Quality Education |
| citation_normalized_percentile.value | 0.48686783 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |