Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder Article Swipe
Gabriel Aughey
,
Elisa Calì
,
Reza Maroofian
,
Maha S. Zaki
,
Alistair T. Pagnamenta
,
Fatima Rahman
,
Lara Menzies
,
Anum Shafique
,
Mohnish Suri
,
Emmanuel Roze
,
M. Aguennouz
,
Zouiri Ghizlane
,
Saadia Maryam Saadi
,
Zafar Ali
,
Uzma Abdulllah
,
Huma Arshad Cheema
,
Muhammad Nadeem Anjum
,
Godeliève Morel
,
Robert McFarland
,
Umut Altunoğlu
,
Verena Kraus
,
Moneef Shoukier
,
David Murphy
,
Kristina Flemming
,
Hilde Yttervik
,
Hajar Rhouda
,
Gaëtan Lesca
,
Bibi Nazia Murtaza
,
Mujaddad Ur Rehman
,
Genomics England Research Consortium
,
Go Hun Seo
,
Christian Beetz
,
Hülya Kayserili
,
Yamna Krioulie
,
Wendy K. Chung
,
Sadaf Naz
,
Shazia Maqbool
,
Joseph G. Gleeson
,
Shahid Mahmood Baig
,
Stéphanie Efthymiou
,
Jenny C Taylor
,
Mariasavina Severino
,
James E.C. Jepson
,
Henry Houlden
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1101/2024.05.03.24306631
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1101/2024.05.03.24306631
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants. To define the phenotypic effects of RBL2 mutations in detail, we identified and clinically characterized a cohort of 28 patients from 18 families carrying LOF variants in RBL2 , including fourteen new variants that substantially broaden the molecular spectrum. The clinical presentation of affected individuals is characterized by a range of neurological and developmental abnormalities. Global developmental delay and intellectual disability were uniformly observed, ranging from moderate to profound and involving lack of acquisition of key motor and speech milestones in most patients. Frequent features included postnatal microcephaly, infantile hypotonia, aggressive behaviour, stereotypic movements and non-specific dysmorphic features. Common neuroimaging features were cerebral atrophy, white matter volume loss, corpus callosum hypoplasia and cerebellar atrophy. In parallel, we used the fruit fly, Drosophila melanogaster , to investigate how disruption of the conserved RBL2 orthologueue Rbf impacts nervous system function and development. We found that Drosophila Rbf LOF mutants recapitulate several features of patients harboring RBL2 variants, including alterations in the head and brain morphology reminiscent of microcephaly, and perturbed locomotor behaviour. Surprisingly, in addition to its known role in controlling tissue growth during development, we find that continued Rbf expression is also required in fully differentiated post-mitotic neurons for normal locomotion in Drosophila , and that adult-stage neuronal re-expression of Rbf is sufficient to rescue Rbf mutant locomotor defects. Taken together, this study provides a clinical and experimental basis to understand genotype-phenotype correlations in an RBL2 -linked neurodevelopmental disorder and suggests that restoring RBL2 expression through gene therapy approaches may ameliorate aspects of RBL2 LOF patient symptoms.
Related Topics
Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.1101/2024.05.03.24306631
- https://www.medrxiv.org/content/medrxiv/early/2024/05/05/2024.05.03.24306631.full.pdf
- OA Status
- green
- References
- 49
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4396655685
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4396655685Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1101/2024.05.03.24306631Digital Object Identifier
- Title
-
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderWork title
- Type
-
preprintOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-05-05Full publication date if available
- Authors
-
Gabriel Aughey, Elisa Calì, Reza Maroofian, Maha S. Zaki, Alistair T. Pagnamenta, Fatima Rahman, Lara Menzies, Anum Shafique, Mohnish Suri, Emmanuel Roze, M. Aguennouz, Zouiri Ghizlane, Saadia Maryam Saadi, Zafar Ali, Uzma Abdulllah, Huma Arshad Cheema, Muhammad Nadeem Anjum, Godeliève Morel, Robert McFarland, Umut Altunoğlu, Verena Kraus, Moneef Shoukier, David Murphy, Kristina Flemming, Hilde Yttervik, Hajar Rhouda, Gaëtan Lesca, Bibi Nazia Murtaza, Mujaddad Ur Rehman, Genomics England Research Consortium, Go Hun Seo, Christian Beetz, Hülya Kayserili, Yamna Krioulie, Wendy K. Chung, Sadaf Naz, Shazia Maqbool, Joseph G. Gleeson, Shahid Mahmood Baig, Stéphanie Efthymiou, Jenny C Taylor, Mariasavina Severino, James E.C. Jepson, Henry HouldenList of authors in order
- Landing page
-
https://doi.org/10.1101/2024.05.03.24306631Publisher landing page
- PDF URL
-
https://www.medrxiv.org/content/medrxiv/early/2024/05/05/2024.05.03.24306631.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.medrxiv.org/content/medrxiv/early/2024/05/05/2024.05.03.24306631.full.pdfDirect OA link when available
- Concepts
-
Neurodevelopmental disorder, Genetics, Medicine, Biology, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
- References (count)
-
49Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W4396655685 |
|---|---|
| doi | https://doi.org/10.1101/2024.05.03.24306631 |
| ids.doi | https://doi.org/10.1101/2024.05.03.24306631 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/38746364 |
| ids.openalex | https://openalex.org/W4396655685 |
| fwci | 0.0 |
| type | preprint |
| title | Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder |
| biblio.issue | |
| biblio.volume | |
| biblio.last_page | |
| biblio.first_page | |
| topics[0].id | https://openalex.org/T10301 |
| topics[0].field.id | https://openalex.org/fields/13 |
| topics[0].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[0].score | 0.9986000061035156 |
| 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 | Mitochondrial Function and Pathology |
| topics[1].id | https://openalex.org/T11041 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9980999827384949 |
| 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 | Ubiquitin and proteasome pathways |
| topics[2].id | https://openalex.org/T11772 |
| topics[2].field.id | https://openalex.org/fields/13 |
| topics[2].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[2].score | 0.9962999820709229 |
| topics[2].domain.id | https://openalex.org/domains/1 |
| topics[2].domain.display_name | Life Sciences |
| topics[2].subfield.id | https://openalex.org/subfields/1311 |
| topics[2].subfield.display_name | Genetics |
| topics[2].display_name | Genetics and Neurodevelopmental Disorders |
| is_xpac | False |
| apc_list | |
| apc_paid | |
| concepts[0].id | https://openalex.org/C2779388368 |
| concepts[0].level | 3 |
| concepts[0].score | 0.671789824962616 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q3450985 |
| concepts[0].display_name | Neurodevelopmental disorder |
| concepts[1].id | https://openalex.org/C54355233 |
| concepts[1].level | 1 |
| concepts[1].score | 0.5398717522621155 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[1].display_name | Genetics |
| concepts[2].id | https://openalex.org/C71924100 |
| concepts[2].level | 0 |
| concepts[2].score | 0.4551023542881012 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[2].display_name | Medicine |
| concepts[3].id | https://openalex.org/C86803240 |
| concepts[3].level | 0 |
| concepts[3].score | 0.3815534710884094 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[3].display_name | Biology |
| concepts[4].id | https://openalex.org/C104317684 |
| concepts[4].level | 2 |
| concepts[4].score | 0.20775103569030762 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[4].display_name | Gene |
| keywords[0].id | https://openalex.org/keywords/neurodevelopmental-disorder |
| keywords[0].score | 0.671789824962616 |
| keywords[0].display_name | Neurodevelopmental disorder |
| keywords[1].id | https://openalex.org/keywords/genetics |
| keywords[1].score | 0.5398717522621155 |
| keywords[1].display_name | Genetics |
| keywords[2].id | https://openalex.org/keywords/medicine |
| keywords[2].score | 0.4551023542881012 |
| keywords[2].display_name | Medicine |
| keywords[3].id | https://openalex.org/keywords/biology |
| keywords[3].score | 0.3815534710884094 |
| keywords[3].display_name | Biology |
| keywords[4].id | https://openalex.org/keywords/gene |
| keywords[4].score | 0.20775103569030762 |
| keywords[4].display_name | Gene |
| language | en |
| locations[0].id | doi:10.1101/2024.05.03.24306631 |
| 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 |
| locations[0].pdf_url | https://www.medrxiv.org/content/medrxiv/early/2024/05/05/2024.05.03.24306631.full.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/10.1101/2024.05.03.24306631 |
| locations[1].id | pmid:38746364 |
| locations[1].is_oa | False |
| locations[1].source.id | https://openalex.org/S4306525036 |
| locations[1].source.issn | |
| locations[1].source.type | repository |
| locations[1].source.is_oa | False |
| locations[1].source.issn_l | |
| locations[1].source.is_core | False |
| locations[1].source.is_in_doaj | False |
| locations[1].source.display_name | PubMed |
| locations[1].source.host_organization | https://openalex.org/I1299303238 |
| locations[1].source.host_organization_name | National Institutes of Health |
| locations[1].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[1].license | |
| locations[1].pdf_url | |
| locations[1].version | publishedVersion |
| locations[1].raw_type | |
| locations[1].license_id | |
| locations[1].is_accepted | True |
| locations[1].is_published | True |
| locations[1].raw_source_name | medRxiv : the preprint server for health sciences |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/38746364 |
| locations[2].id | pmh:oai:pubmedcentral.nih.gov:11092723 |
| locations[2].is_oa | True |
| locations[2].source.id | https://openalex.org/S2764455111 |
| locations[2].source.issn | |
| locations[2].source.type | repository |
| locations[2].source.is_oa | False |
| locations[2].source.issn_l | |
| locations[2].source.is_core | False |
| locations[2].source.is_in_doaj | False |
| locations[2].source.display_name | PubMed Central |
| locations[2].source.host_organization | https://openalex.org/I1299303238 |
| locations[2].source.host_organization_name | National Institutes of Health |
| locations[2].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[2].license | |
| locations[2].pdf_url | |
| locations[2].version | submittedVersion |
| locations[2].raw_type | Text |
| locations[2].license_id | |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | medRxiv |
| locations[2].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/11092723 |
| indexed_in | crossref, pubmed |
| authorships[0].author.id | https://openalex.org/A5002020580 |
| authorships[0].author.orcid | https://orcid.org/0000-0001-5610-9345 |
| authorships[0].author.display_name | Gabriel Aughey |
| authorships[0].countries | GB |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I4210151618, https://openalex.org/I45129253 |
| authorships[0].affiliations[0].raw_affiliation_string | Department of Clinical and Experimental Epilepsy, University College London, Queen Square, Institute of Neurology, WCN 3BG London, UK. |
| authorships[0].institutions[0].id | https://openalex.org/I4210151618 |
| authorships[0].institutions[0].ror | https://ror.org/048b34d51 |
| authorships[0].institutions[0].type | healthcare |
| authorships[0].institutions[0].lineage | https://openalex.org/I1340918713, https://openalex.org/I4210151618 |
| authorships[0].institutions[0].country_code | GB |
| authorships[0].institutions[0].display_name | National Hospital for Neurology and Neurosurgery |
| authorships[0].institutions[1].id | https://openalex.org/I45129253 |
| authorships[0].institutions[1].ror | https://ror.org/02jx3x895 |
| authorships[0].institutions[1].type | education |
| authorships[0].institutions[1].lineage | https://openalex.org/I124357947, https://openalex.org/I45129253 |
| authorships[0].institutions[1].country_code | GB |
| authorships[0].institutions[1].display_name | University College London |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Gabriel Aughey |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | Department of Clinical and Experimental Epilepsy, University College London, Queen Square, Institute of Neurology, WCN 3BG London, UK. |
| authorships[1].author.id | https://openalex.org/A5022409589 |
| authorships[1].author.orcid | https://orcid.org/0000-0001-9826-4490 |
| authorships[1].author.display_name | Elisa Calì |
| authorships[1].countries | GB |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I4210151618, https://openalex.org/I45129253 |
| authorships[1].affiliations[0].raw_affiliation_string | Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. |
| authorships[1].institutions[0].id | https://openalex.org/I4210151618 |
| authorships[1].institutions[0].ror | https://ror.org/048b34d51 |
| authorships[1].institutions[0].type | healthcare |
| authorships[1].institutions[0].lineage | https://openalex.org/I1340918713, https://openalex.org/I4210151618 |
| authorships[1].institutions[0].country_code | GB |
| authorships[1].institutions[0].display_name | National Hospital for Neurology and Neurosurgery |
| authorships[1].institutions[1].id | https://openalex.org/I45129253 |
| authorships[1].institutions[1].ror | https://ror.org/02jx3x895 |
| authorships[1].institutions[1].type | education |
| authorships[1].institutions[1].lineage | https://openalex.org/I124357947, https://openalex.org/I45129253 |
| authorships[1].institutions[1].country_code | GB |
| authorships[1].institutions[1].display_name | University College London |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Elisa Cali |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. |
| authorships[2].author.id | https://openalex.org/A5083555191 |
| authorships[2].author.orcid | https://orcid.org/0000-0001-6763-1542 |
| authorships[2].author.display_name | Reza Maroofian |
| authorships[2].countries | GB |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I4210151618, https://openalex.org/I45129253 |
| authorships[2].affiliations[0].raw_affiliation_string | Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. |
| authorships[2].institutions[0].id | https://openalex.org/I4210151618 |
| authorships[2].institutions[0].ror | https://ror.org/048b34d51 |
| authorships[2].institutions[0].type | healthcare |
| authorships[2].institutions[0].lineage | https://openalex.org/I1340918713, https://openalex.org/I4210151618 |
| authorships[2].institutions[0].country_code | GB |
| authorships[2].institutions[0].display_name | National Hospital for Neurology and Neurosurgery |
| authorships[2].institutions[1].id | https://openalex.org/I45129253 |
| authorships[2].institutions[1].ror | https://ror.org/02jx3x895 |
| authorships[2].institutions[1].type | education |
| authorships[2].institutions[1].lineage | https://openalex.org/I124357947, https://openalex.org/I45129253 |
| authorships[2].institutions[1].country_code | GB |
| authorships[2].institutions[1].display_name | University College London |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Reza Maroofian |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. |
| authorships[3].author.id | https://openalex.org/A5016900292 |
| authorships[3].author.orcid | https://orcid.org/0000-0001-7840-0002 |
| authorships[3].author.display_name | Maha S. Zaki |
| authorships[3].countries | EG |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I4210131959 |
| authorships[3].affiliations[0].raw_affiliation_string | Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo 12622, Egypt. |
| authorships[3].institutions[0].id | https://openalex.org/I4210131959 |
| authorships[3].institutions[0].ror | https://ror.org/02n85j827 |
| authorships[3].institutions[0].type | facility |
| authorships[3].institutions[0].lineage | https://openalex.org/I4210131959 |
| authorships[3].institutions[0].country_code | EG |
| authorships[3].institutions[0].display_name | National Research Centre |
| authorships[3].author_position | middle |
| authorships[3].raw_author_name | Maha S Zaki |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Dokki, Cairo 12622, Egypt. |
| authorships[4].author.id | https://openalex.org/A5052845737 |
| authorships[4].author.orcid | https://orcid.org/0000-0001-7334-0602 |
| authorships[4].author.display_name | Alistair T. Pagnamenta |
| authorships[4].countries | GB |
| authorships[4].affiliations[0].institution_ids | https://openalex.org/I40120149 |
| authorships[4].affiliations[0].raw_affiliation_string | NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, OX3 9DU, UK. |
| authorships[4].institutions[0].id | https://openalex.org/I40120149 |
| authorships[4].institutions[0].ror | https://ror.org/052gg0110 |
| authorships[4].institutions[0].type | education |
| authorships[4].institutions[0].lineage | https://openalex.org/I40120149 |
| authorships[4].institutions[0].country_code | GB |
| authorships[4].institutions[0].display_name | University of Oxford |
| authorships[4].author_position | middle |
| authorships[4].raw_author_name | Alistair T Pagnamenta |
| authorships[4].is_corresponding | False |
| authorships[4].raw_affiliation_strings | NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, OX3 9DU, UK. |
| authorships[5].author.id | https://openalex.org/A5026343653 |
| authorships[5].author.orcid | https://orcid.org/0000-0003-1312-1007 |
| authorships[5].author.display_name | Fatima Rahman |
| authorships[5].affiliations[0].raw_affiliation_string | Department of Developmental-Behavioral Pediatrics, The Children's Hospital, (UC HS-CH), University of Child Health Sciences, Lahore 4600, Pakistan. |
| authorships[5].author_position | middle |
| authorships[5].raw_author_name | Fatima Rahman |
| authorships[5].is_corresponding | False |
| authorships[5].raw_affiliation_strings | Department of Developmental-Behavioral Pediatrics, The Children's Hospital, (UC HS-CH), University of Child Health Sciences, Lahore 4600, Pakistan. |
| authorships[6].author.id | https://openalex.org/A5023147804 |
| authorships[6].author.orcid | https://orcid.org/0000-0003-3710-501X |
| authorships[6].author.display_name | Lara Menzies |
| authorships[6].countries | GB |
| authorships[6].affiliations[0].institution_ids | https://openalex.org/I2800349819 |
| authorships[6].affiliations[0].raw_affiliation_string | Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK. |
| authorships[6].institutions[0].id | https://openalex.org/I2800349819 |
| authorships[6].institutions[0].ror | https://ror.org/03zydm450 |
| authorships[6].institutions[0].type | healthcare |
| authorships[6].institutions[0].lineage | https://openalex.org/I2800349819 |
| authorships[6].institutions[0].country_code | GB |
| authorships[6].institutions[0].display_name | Great Ormond Street Hospital for Children NHS Foundation Trust |
| authorships[6].author_position | middle |
| authorships[6].raw_author_name | Lara Menzies |
| authorships[6].is_corresponding | False |
| authorships[6].raw_affiliation_strings | Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK. |
| authorships[7].author.id | https://openalex.org/A5038228779 |
| authorships[7].author.orcid | https://orcid.org/0000-0002-9510-1407 |
| authorships[7].author.display_name | Anum Shafique |
| authorships[7].countries | PK |
| authorships[7].affiliations[0].institution_ids | https://openalex.org/I172780181 |
| authorships[7].affiliations[0].raw_affiliation_string | School of Biological Sciences, University of the Punjab, Lahore, Pakistan |
| authorships[7].institutions[0].id | https://openalex.org/I172780181 |
| authorships[7].institutions[0].ror | https://ror.org/011maz450 |
| authorships[7].institutions[0].type | education |
| authorships[7].institutions[0].lineage | https://openalex.org/I172780181 |
| authorships[7].institutions[0].country_code | PK |
| authorships[7].institutions[0].display_name | University of the Punjab |
| authorships[7].author_position | middle |
| authorships[7].raw_author_name | Anum Shafique |
| authorships[7].is_corresponding | False |
| authorships[7].raw_affiliation_strings | School of Biological Sciences, University of the Punjab, Lahore, Pakistan |
| authorships[8].author.id | https://openalex.org/A5024253291 |
| authorships[8].author.orcid | https://orcid.org/0000-0001-9037-701X |
| authorships[8].author.display_name | Mohnish Suri |
| authorships[8].countries | GB |
| authorships[8].affiliations[0].institution_ids | https://openalex.org/I1334287468 |
| authorships[8].affiliations[0].raw_affiliation_string | UK National Paediatric Ataxia Telangiectasia Clinic, Nottingham University Hospitals NHS Trust, Nottingham, UK.Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK. |
| authorships[8].institutions[0].id | https://openalex.org/I1334287468 |
| authorships[8].institutions[0].ror | https://ror.org/05y3qh794 |
| authorships[8].institutions[0].type | healthcare |
| authorships[8].institutions[0].lineage | https://openalex.org/I1334287468 |
| authorships[8].institutions[0].country_code | GB |
| authorships[8].institutions[0].display_name | Nottingham University Hospitals NHS Trust |
| authorships[8].author_position | middle |
| authorships[8].raw_author_name | Mohnish Suri |
| authorships[8].is_corresponding | False |
| authorships[8].raw_affiliation_strings | UK National Paediatric Ataxia Telangiectasia Clinic, Nottingham University Hospitals NHS Trust, Nottingham, UK.Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK. |
| authorships[9].author.id | https://openalex.org/A5032654601 |
| authorships[9].author.orcid | https://orcid.org/0000-0001-9727-3459 |
| authorships[9].author.display_name | Emmanuel Roze |
| authorships[9].countries | FR |
| authorships[9].affiliations[0].institution_ids | https://openalex.org/I154526488, https://openalex.org/I4210152724 |
| authorships[9].affiliations[0].raw_affiliation_string | Department of Neurology, INSERM, Institut du Cerveau et de la Moelle Epiniere (ICM), Centre d'Investigation Clinique (CIC) 1422, Paris, France |
| authorships[9].institutions[0].id | https://openalex.org/I154526488 |
| authorships[9].institutions[0].ror | https://ror.org/02vjkv261 |
| authorships[9].institutions[0].type | government |
| authorships[9].institutions[0].lineage | https://openalex.org/I154526488 |
| authorships[9].institutions[0].country_code | FR |
| authorships[9].institutions[0].display_name | Inserm |
| authorships[9].institutions[1].id | https://openalex.org/I4210152724 |
| authorships[9].institutions[1].ror | https://ror.org/050gn5214 |
| authorships[9].institutions[1].type | facility |
| authorships[9].institutions[1].lineage | https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I39804081, https://openalex.org/I4210096427, https://openalex.org/I4210152724 |
| authorships[9].institutions[1].country_code | FR |
| authorships[9].institutions[1].display_name | Institut du Cerveau |
| authorships[9].author_position | middle |
| authorships[9].raw_author_name | Emmanuel Roze |
| authorships[9].is_corresponding | False |
| authorships[9].raw_affiliation_strings | Department of Neurology, INSERM, Institut du Cerveau et de la Moelle Epiniere (ICM), Centre d'Investigation Clinique (CIC) 1422, Paris, France |
| authorships[10].author.id | https://openalex.org/A5021939226 |
| authorships[10].author.orcid | https://orcid.org/0000-0003-0440-0354 |
| authorships[10].author.display_name | M. Aguennouz |
| authorships[10].countries | IT |
| authorships[10].affiliations[0].institution_ids | https://openalex.org/I112862951 |
| authorships[10].affiliations[0].raw_affiliation_string | Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. |
| authorships[10].institutions[0].id | https://openalex.org/I112862951 |
| authorships[10].institutions[0].ror | https://ror.org/05ctdxz19 |
| authorships[10].institutions[0].type | education |
| authorships[10].institutions[0].lineage | https://openalex.org/I112862951 |
| authorships[10].institutions[0].country_code | IT |
| authorships[10].institutions[0].display_name | University of Messina |
| authorships[10].author_position | middle |
| authorships[10].raw_author_name | Mohammed Aguennouz |
| authorships[10].is_corresponding | False |
| authorships[10].raw_affiliation_strings | Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. |
| authorships[11].author.id | https://openalex.org/A5015865579 |
| authorships[11].author.orcid | |
| authorships[11].author.display_name | Zouiri Ghizlane |
| authorships[11].affiliations[0].raw_affiliation_string | Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children's Hospital, BP 6527 Rabat, Morocco. |
| authorships[11].author_position | middle |
| authorships[11].raw_author_name | Zouiri Ghizlane |
| authorships[11].is_corresponding | False |
| authorships[11].raw_affiliation_strings | Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children's Hospital, BP 6527 Rabat, Morocco. |
| authorships[12].author.id | https://openalex.org/A5084350639 |
| authorships[12].author.orcid | https://orcid.org/0000-0001-5962-2101 |
| authorships[12].author.display_name | Saadia Maryam Saadi |
| authorships[12].countries | PK |
| authorships[12].affiliations[0].institution_ids | https://openalex.org/I1308171952, https://openalex.org/I134276161 |
| authorships[12].affiliations[0].raw_affiliation_string | Human Molecular Genetics Laboratory, NIBGE-PIEAS, Faisalabad Pakistan |
| authorships[12].institutions[0].id | https://openalex.org/I1308171952 |
| authorships[12].institutions[0].ror | https://ror.org/01bh91531 |
| authorships[12].institutions[0].type | education |
| authorships[12].institutions[0].lineage | https://openalex.org/I1308171952 |
| authorships[12].institutions[0].country_code | PK |
| authorships[12].institutions[0].display_name | National Institute for Biotechnology and Genetic Engineering |
| authorships[12].institutions[1].id | https://openalex.org/I134276161 |
| authorships[12].institutions[1].ror | https://ror.org/04d4mbk19 |
| authorships[12].institutions[1].type | education |
| authorships[12].institutions[1].lineage | https://openalex.org/I134276161 |
| authorships[12].institutions[1].country_code | PK |
| authorships[12].institutions[1].display_name | Pakistan Institute of Engineering and Applied Sciences |
| authorships[12].author_position | middle |
| authorships[12].raw_author_name | Saadia Maryam Saadi |
| authorships[12].is_corresponding | False |
| authorships[12].raw_affiliation_strings | Human Molecular Genetics Laboratory, NIBGE-PIEAS, Faisalabad Pakistan |
| authorships[13].author.id | https://openalex.org/A5074708059 |
| authorships[13].author.orcid | https://orcid.org/0000-0002-2389-3337 |
| authorships[13].author.display_name | Zafar Ali |
| authorships[13].countries | PK |
| authorships[13].affiliations[0].institution_ids | https://openalex.org/I335365548 |
| authorships[13].affiliations[0].raw_affiliation_string | Centre for Biotechnology and Microbiology, University of Swat, Charbagh, Swat, Khyber Pakhtunkhwa, 19120, Pakistan. |
| authorships[13].institutions[0].id | https://openalex.org/I335365548 |
| authorships[13].institutions[0].ror | https://ror.org/01q9mqz67 |
| authorships[13].institutions[0].type | education |
| authorships[13].institutions[0].lineage | https://openalex.org/I335365548 |
| authorships[13].institutions[0].country_code | PK |
| authorships[13].institutions[0].display_name | University of Swat |
| authorships[13].author_position | middle |
| authorships[13].raw_author_name | Zafar Ali |
| authorships[13].is_corresponding | False |
| authorships[13].raw_affiliation_strings | Centre for Biotechnology and Microbiology, University of Swat, Charbagh, Swat, Khyber Pakhtunkhwa, 19120, Pakistan. |
| authorships[14].author.id | https://openalex.org/A5114348901 |
| authorships[14].author.orcid | |
| authorships[14].author.display_name | Uzma Abdulllah |
| authorships[14].countries | PK |
| authorships[14].affiliations[0].institution_ids | https://openalex.org/I200749728 |
| authorships[14].affiliations[0].raw_affiliation_string | University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi, Rawalpindi 46300, Pakistan |
| authorships[14].institutions[0].id | https://openalex.org/I200749728 |
| authorships[14].institutions[0].ror | https://ror.org/035zn2q74 |
| authorships[14].institutions[0].type | education |
| authorships[14].institutions[0].lineage | https://openalex.org/I200749728 |
| authorships[14].institutions[0].country_code | PK |
| authorships[14].institutions[0].display_name | Pir Mehr Ali Shah Arid Agriculture University |
| authorships[14].author_position | middle |
| authorships[14].raw_author_name | Uzma Abdulllah |
| authorships[14].is_corresponding | False |
| authorships[14].raw_affiliation_strings | University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi, Rawalpindi 46300, Pakistan |
| authorships[15].author.id | https://openalex.org/A5041149168 |
| authorships[15].author.orcid | https://orcid.org/0000-0002-0463-687X |
| authorships[15].author.display_name | Huma Arshad Cheema |
| authorships[15].countries | PK |
| authorships[15].affiliations[0].institution_ids | https://openalex.org/I2803096283 |
| authorships[15].affiliations[0].raw_affiliation_string | Department of Paediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore Pakistan |
| authorships[15].institutions[0].id | https://openalex.org/I2803096283 |
| authorships[15].institutions[0].ror | https://ror.org/00gt6pp04 |
| authorships[15].institutions[0].type | education |
| authorships[15].institutions[0].lineage | https://openalex.org/I2803096283 |
| authorships[15].institutions[0].country_code | PK |
| authorships[15].institutions[0].display_name | University of Health Sciences Lahore |
| authorships[15].author_position | middle |
| authorships[15].raw_author_name | Huma Arshad Cheema |
| authorships[15].is_corresponding | False |
| authorships[15].raw_affiliation_strings | Department of Paediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore Pakistan |
| authorships[16].author.id | https://openalex.org/A5108248780 |
| authorships[16].author.orcid | |
| authorships[16].author.display_name | Muhammad Nadeem Anjum |
| authorships[16].countries | PK |
| authorships[16].affiliations[0].institution_ids | https://openalex.org/I2803096283 |
| authorships[16].affiliations[0].raw_affiliation_string | Department of Pediatric Medicine, The Children's Hospital, University of Child Health Sciences, Lahore, Pakistan |
| authorships[16].institutions[0].id | https://openalex.org/I2803096283 |
| authorships[16].institutions[0].ror | https://ror.org/00gt6pp04 |
| authorships[16].institutions[0].type | education |
| authorships[16].institutions[0].lineage | https://openalex.org/I2803096283 |
| authorships[16].institutions[0].country_code | PK |
| authorships[16].institutions[0].display_name | University of Health Sciences Lahore |
| authorships[16].author_position | middle |
| authorships[16].raw_author_name | Muhammad Nadeem Anjum |
| authorships[16].is_corresponding | False |
| authorships[16].raw_affiliation_strings | Department of Pediatric Medicine, The Children's Hospital, University of Child Health Sciences, Lahore, Pakistan |
| authorships[17].author.id | https://openalex.org/A5036266031 |
| authorships[17].author.orcid | https://orcid.org/0000-0002-4132-6264 |
| authorships[17].author.display_name | Godeliève Morel |
| authorships[17].affiliations[0].raw_affiliation_string | Service de Genetique Medicale, CHU Felix Guyon, France |
| authorships[17].author_position | middle |
| authorships[17].raw_author_name | Godelieve Morel |
| authorships[17].is_corresponding | False |
| authorships[17].raw_affiliation_strings | Service de Genetique Medicale, CHU Felix Guyon, France |
| authorships[18].author.id | https://openalex.org/A5053767923 |
| authorships[18].author.orcid | https://orcid.org/0000-0002-8833-2688 |
| authorships[18].author.display_name | Robert McFarland |
| authorships[18].countries | GB |
| authorships[18].affiliations[0].institution_ids | https://openalex.org/I4210138563, https://openalex.org/I84884186 |
| authorships[18].affiliations[0].raw_affiliation_string | Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon |
| authorships[18].institutions[0].id | https://openalex.org/I84884186 |
| authorships[18].institutions[0].ror | https://ror.org/01kj2bm70 |
| authorships[18].institutions[0].type | education |
| authorships[18].institutions[0].lineage | https://openalex.org/I84884186 |
| authorships[18].institutions[0].country_code | GB |
| authorships[18].institutions[0].display_name | Newcastle University |
| authorships[18].institutions[1].id | https://openalex.org/I4210138563 |
| authorships[18].institutions[1].ror | https://ror.org/03myjph80 |
| authorships[18].institutions[1].type | facility |
| authorships[18].institutions[1].lineage | https://openalex.org/I4210138563, https://openalex.org/I84884186, https://openalex.org/I87048295 |
| authorships[18].institutions[1].country_code | GB |
| authorships[18].institutions[1].display_name | Wellcome Centre for Mitochondrial Research |
| authorships[18].author_position | middle |
| authorships[18].raw_author_name | Robert McFarland |
| authorships[18].is_corresponding | False |
| authorships[18].raw_affiliation_strings | Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon |
| authorships[19].author.id | https://openalex.org/A5041156800 |
| authorships[19].author.orcid | https://orcid.org/0000-0002-3172-5368 |
| authorships[19].author.display_name | Umut Altunoğlu |
| authorships[19].countries | TR |
| authorships[19].affiliations[0].institution_ids | https://openalex.org/I1351752 |
| authorships[19].affiliations[0].raw_affiliation_string | Medical Genetics Department, School of Medicine (KUSoM), Koc University, Istanbul, Turkey |
| authorships[19].institutions[0].id | https://openalex.org/I1351752 |
| authorships[19].institutions[0].ror | https://ror.org/00jzwgz36 |
| authorships[19].institutions[0].type | education |
| authorships[19].institutions[0].lineage | https://openalex.org/I1351752 |
| authorships[19].institutions[0].country_code | TR |
| authorships[19].institutions[0].display_name | Koç University |
| authorships[19].author_position | middle |
| authorships[19].raw_author_name | Umut Altunoglu |
| authorships[19].is_corresponding | False |
| authorships[19].raw_affiliation_strings | Medical Genetics Department, School of Medicine (KUSoM), Koc University, Istanbul, Turkey |
| authorships[20].author.id | https://openalex.org/A5037389893 |
| authorships[20].author.orcid | |
| authorships[20].author.display_name | Verena Kraus |
| authorships[20].affiliations[0].raw_affiliation_string | Department of Pediatrics and Social Pediatrics, TUM School of Medicine, Munich, Germany |
| authorships[20].author_position | middle |
| authorships[20].raw_author_name | Verena Kraus |
| authorships[20].is_corresponding | False |
| authorships[20].raw_affiliation_strings | Department of Pediatrics and Social Pediatrics, TUM School of Medicine, Munich, Germany |
| authorships[21].author.id | https://openalex.org/A5040346511 |
| authorships[21].author.orcid | https://orcid.org/0000-0002-9237-4696 |
| authorships[21].author.display_name | Moneef Shoukier |
| authorships[21].affiliations[0].raw_affiliation_string | Department of Molecular Genetics, Prenatal Medicine Munich, Munich, Germany. |
| authorships[21].author_position | middle |
| authorships[21].raw_author_name | Moneef Shoukier |
| authorships[21].is_corresponding | False |
| authorships[21].raw_affiliation_strings | Department of Molecular Genetics, Prenatal Medicine Munich, Munich, Germany. |
| authorships[22].author.id | https://openalex.org/A5043633854 |
| authorships[22].author.orcid | https://orcid.org/0000-0002-3771-3800 |
| authorships[22].author.display_name | David Murphy |
| authorships[22].countries | GB |
| authorships[22].affiliations[0].institution_ids | https://openalex.org/I4210151618, https://openalex.org/I45129253 |
| authorships[22].affiliations[0].raw_affiliation_string | Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, United Kingdom |
| authorships[22].institutions[0].id | https://openalex.org/I4210151618 |
| authorships[22].institutions[0].ror | https://ror.org/048b34d51 |
| authorships[22].institutions[0].type | healthcare |
| authorships[22].institutions[0].lineage | https://openalex.org/I1340918713, https://openalex.org/I4210151618 |
| authorships[22].institutions[0].country_code | GB |
| authorships[22].institutions[0].display_name | National Hospital for Neurology and Neurosurgery |
| authorships[22].institutions[1].id | https://openalex.org/I45129253 |
| authorships[22].institutions[1].ror | https://ror.org/02jx3x895 |
| authorships[22].institutions[1].type | education |
| authorships[22].institutions[1].lineage | https://openalex.org/I124357947, https://openalex.org/I45129253 |
| authorships[22].institutions[1].country_code | GB |
| authorships[22].institutions[1].display_name | University College London |
| authorships[22].author_position | middle |
| authorships[22].raw_author_name | David Murphy |
| authorships[22].is_corresponding | False |
| authorships[22].raw_affiliation_strings | Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, United Kingdom |
| authorships[23].author.id | https://openalex.org/A5018008633 |
| authorships[23].author.orcid | |
| authorships[23].author.display_name | Kristina Flemming |
| authorships[23].countries | NO |
| authorships[23].affiliations[0].institution_ids | https://openalex.org/I1298853749 |
| authorships[23].affiliations[0].raw_affiliation_string | Department of Pediatric Rehabilitation, University Hospital Northern Norway |
| authorships[23].institutions[0].id | https://openalex.org/I1298853749 |
| authorships[23].institutions[0].ror | https://ror.org/030v5kp38 |
| authorships[23].institutions[0].type | healthcare |
| authorships[23].institutions[0].lineage | https://openalex.org/I1298853749, https://openalex.org/I63903255 |
| authorships[23].institutions[0].country_code | NO |
| authorships[23].institutions[0].display_name | University Hospital of North Norway |
| authorships[23].author_position | middle |
| authorships[23].raw_author_name | Kristina Flemming |
| authorships[23].is_corresponding | False |
| authorships[23].raw_affiliation_strings | Department of Pediatric Rehabilitation, University Hospital Northern Norway |
| authorships[24].author.id | https://openalex.org/A5031567647 |
| authorships[24].author.orcid | |
| authorships[24].author.display_name | Hilde Yttervik |
| authorships[24].countries | NO |
| authorships[24].affiliations[0].institution_ids | https://openalex.org/I1298853749 |
| authorships[24].affiliations[0].raw_affiliation_string | Department of Medical Genetics, University Hospital of North Norway, Tromso, Norway |
| authorships[24].institutions[0].id | https://openalex.org/I1298853749 |
| authorships[24].institutions[0].ror | https://ror.org/030v5kp38 |
| authorships[24].institutions[0].type | healthcare |
| authorships[24].institutions[0].lineage | https://openalex.org/I1298853749, https://openalex.org/I63903255 |
| authorships[24].institutions[0].country_code | NO |
| authorships[24].institutions[0].display_name | University Hospital of North Norway |
| authorships[24].author_position | middle |
| authorships[24].raw_author_name | Hilde Yttervik |
| authorships[24].is_corresponding | False |
| authorships[24].raw_affiliation_strings | Department of Medical Genetics, University Hospital of North Norway, Tromso, Norway |
| authorships[25].author.id | https://openalex.org/A5012230570 |
| authorships[25].author.orcid | https://orcid.org/0000-0001-9325-7072 |
| authorships[25].author.display_name | Hajar Rhouda |
| authorships[25].affiliations[0].raw_affiliation_string | Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children's Hospital, BP 6527 Rabat, Morocco. |
| authorships[25].author_position | middle |
| authorships[25].raw_author_name | Hajar Rhouda |
| authorships[25].is_corresponding | False |
| authorships[25].raw_affiliation_strings | Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children's Hospital, BP 6527 Rabat, Morocco. |
| authorships[26].author.id | https://openalex.org/A5049933907 |
| authorships[26].author.orcid | https://orcid.org/0000-0001-7691-9492 |
| authorships[26].author.display_name | Gaëtan Lesca |
| authorships[26].countries | FR |
| authorships[26].affiliations[0].institution_ids | https://openalex.org/I100532134, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210095118 |
| authorships[26].affiliations[0].raw_affiliation_string | GENDEV Team, CRNL, INSERM U1028, CNRS UMR 5292, UCBL1, Lyon, France |
| authorships[26].affiliations[1].institution_ids | https://openalex.org/I4210100596 |
| authorships[26].affiliations[1].raw_affiliation_string | Genetics Department, Hospices Civils de Lyon, Lyon, France |
| authorships[26].institutions[0].id | https://openalex.org/I1294671590 |
| authorships[26].institutions[0].ror | https://ror.org/02feahw73 |
| authorships[26].institutions[0].type | government |
| authorships[26].institutions[0].lineage | https://openalex.org/I1294671590 |
| authorships[26].institutions[0].country_code | FR |
| authorships[26].institutions[0].display_name | Centre National de la Recherche Scientifique |
| authorships[26].institutions[1].id | https://openalex.org/I4210095118 |
| authorships[26].institutions[1].ror | https://ror.org/00pdd0432 |
| authorships[26].institutions[1].type | facility |
| authorships[26].institutions[1].lineage | https://openalex.org/I100532134, https://openalex.org/I1294671590, https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I203339264, https://openalex.org/I4210095118, https://openalex.org/I4210096427, https://openalex.org/I4412460541 |
| authorships[26].institutions[1].country_code | FR |
| authorships[26].institutions[1].display_name | Centre de Recherche en Neurosciences de Lyon |
| authorships[26].institutions[2].id | https://openalex.org/I4210100596 |
| authorships[26].institutions[2].ror | https://ror.org/01502ca60 |
| authorships[26].institutions[2].type | healthcare |
| authorships[26].institutions[2].lineage | https://openalex.org/I4210100596 |
| authorships[26].institutions[2].country_code | FR |
| authorships[26].institutions[2].display_name | Hospices Civils de Lyon |
| authorships[26].institutions[3].id | https://openalex.org/I154526488 |
| authorships[26].institutions[3].ror | https://ror.org/02vjkv261 |
| authorships[26].institutions[3].type | government |
| authorships[26].institutions[3].lineage | https://openalex.org/I154526488 |
| authorships[26].institutions[3].country_code | FR |
| authorships[26].institutions[3].display_name | Inserm |
| authorships[26].institutions[4].id | https://openalex.org/I100532134 |
| authorships[26].institutions[4].ror | https://ror.org/029brtt94 |
| authorships[26].institutions[4].type | education |
| authorships[26].institutions[4].lineage | https://openalex.org/I100532134, https://openalex.org/I203339264 |
| authorships[26].institutions[4].country_code | FR |
| authorships[26].institutions[4].display_name | Université Claude Bernard Lyon 1 |
| authorships[26].author_position | middle |
| authorships[26].raw_author_name | Gaetan Lesca |
| authorships[26].is_corresponding | False |
| authorships[26].raw_affiliation_strings | GENDEV Team, CRNL, INSERM U1028, CNRS UMR 5292, UCBL1, Lyon, France, Genetics Department, Hospices Civils de Lyon, Lyon, France |
| authorships[27].author.id | https://openalex.org/A5003351985 |
| authorships[27].author.orcid | https://orcid.org/0000-0002-7442-627X |
| authorships[27].author.display_name | Bibi Nazia Murtaza |
| authorships[27].countries | PK |
| authorships[27].affiliations[0].institution_ids | https://openalex.org/I3131573596, https://openalex.org/I43879129 |
| authorships[27].affiliations[0].raw_affiliation_string | Abbottabad University of Science and Technology KP, Pakistan Government College University (GCU), Lahore, Pakistan |
| authorships[27].institutions[0].id | https://openalex.org/I3131573596 |
| authorships[27].institutions[0].ror | https://ror.org/0549hdw45 |
| authorships[27].institutions[0].type | education |
| authorships[27].institutions[0].lineage | https://openalex.org/I3131573596 |
| authorships[27].institutions[0].country_code | PK |
| authorships[27].institutions[0].display_name | Abbottabad University of Science and Technology |
| authorships[27].institutions[1].id | https://openalex.org/I43879129 |
| authorships[27].institutions[1].ror | https://ror.org/040gec961 |
| authorships[27].institutions[1].type | education |
| authorships[27].institutions[1].lineage | https://openalex.org/I43879129 |
| authorships[27].institutions[1].country_code | PK |
| authorships[27].institutions[1].display_name | Government College University, Lahore |
| authorships[27].author_position | middle |
| authorships[27].raw_author_name | Bibi Nazia Murtaza |
| authorships[27].is_corresponding | False |
| authorships[27].raw_affiliation_strings | Abbottabad University of Science and Technology KP, Pakistan Government College University (GCU), Lahore, Pakistan |
| authorships[28].author.id | https://openalex.org/A5113126947 |
| authorships[28].author.orcid | |
| authorships[28].author.display_name | Mujaddad Ur Rehman |
| authorships[28].countries | PK |
| authorships[28].affiliations[0].institution_ids | https://openalex.org/I3131573596, https://openalex.org/I43879129 |
| authorships[28].affiliations[0].raw_affiliation_string | Abbottabad University of Science and Technology KP, Pakistan Government College University (GCU), Lahore, Pakistan |
| authorships[28].institutions[0].id | https://openalex.org/I3131573596 |
| authorships[28].institutions[0].ror | https://ror.org/0549hdw45 |
| authorships[28].institutions[0].type | education |
| authorships[28].institutions[0].lineage | https://openalex.org/I3131573596 |
| authorships[28].institutions[0].country_code | PK |
| authorships[28].institutions[0].display_name | Abbottabad University of Science and Technology |
| authorships[28].institutions[1].id | https://openalex.org/I43879129 |
| authorships[28].institutions[1].ror | https://ror.org/040gec961 |
| authorships[28].institutions[1].type | education |
| authorships[28].institutions[1].lineage | https://openalex.org/I43879129 |
| authorships[28].institutions[1].country_code | PK |
| authorships[28].institutions[1].display_name | Government College University, Lahore |
| authorships[28].author_position | middle |
| authorships[28].raw_author_name | Mujaddad Ur Rehman |
| authorships[28].is_corresponding | False |
| authorships[28].raw_affiliation_strings | Abbottabad University of Science and Technology KP, Pakistan Government College University (GCU), Lahore, Pakistan |
| authorships[29].author.id | https://openalex.org/A5111152033 |
| authorships[29].author.orcid | |
| authorships[29].author.display_name | Genomics England Research Consortium |
| authorships[29].author_position | middle |
| authorships[29].raw_author_name | Genomics England Consortium |
| authorships[29].is_corresponding | False |
| authorships[30].author.id | https://openalex.org/A5052612029 |
| authorships[30].author.orcid | https://orcid.org/0000-0003-1518-1791 |
| authorships[30].author.display_name | Go Hun Seo |
| authorships[30].affiliations[0].raw_affiliation_string | 3billion inc, Seoul, South Korea |
| authorships[30].author_position | middle |
| authorships[30].raw_author_name | Go Hun Seo |
| authorships[30].is_corresponding | False |
| authorships[30].raw_affiliation_strings | 3billion inc, Seoul, South Korea |
| authorships[31].author.id | https://openalex.org/A5087304778 |
| authorships[31].author.orcid | https://orcid.org/0000-0001-7061-2895 |
| authorships[31].author.display_name | Christian Beetz |
| authorships[31].countries | DE |
| authorships[31].affiliations[0].institution_ids | https://openalex.org/I4210138188 |
| authorships[31].affiliations[0].raw_affiliation_string | Centogene GmbH, Rostock, Germany. |
| authorships[31].institutions[0].id | https://openalex.org/I4210138188 |
| authorships[31].institutions[0].ror | https://ror.org/03ccx3r49 |
| authorships[31].institutions[0].type | company |
| authorships[31].institutions[0].lineage | https://openalex.org/I4210138188 |
| authorships[31].institutions[0].country_code | DE |
| authorships[31].institutions[0].display_name | Centogene (Germany) |
| authorships[31].author_position | middle |
| authorships[31].raw_author_name | Christian Beetz |
| authorships[31].is_corresponding | False |
| authorships[31].raw_affiliation_strings | Centogene GmbH, Rostock, Germany. |
| authorships[32].author.id | https://openalex.org/A5026370929 |
| authorships[32].author.orcid | https://orcid.org/0000-0003-0376-499X |
| authorships[32].author.display_name | Hülya Kayserili |
| authorships[32].countries | TR |
| authorships[32].affiliations[0].institution_ids | https://openalex.org/I1351752 |
| authorships[32].affiliations[0].raw_affiliation_string | Medical Genetics Department, School of Medicine (KUSoM), Koc University, Istanbul, Turkey |
| authorships[32].institutions[0].id | https://openalex.org/I1351752 |
| authorships[32].institutions[0].ror | https://ror.org/00jzwgz36 |
| authorships[32].institutions[0].type | education |
| authorships[32].institutions[0].lineage | https://openalex.org/I1351752 |
| authorships[32].institutions[0].country_code | TR |
| authorships[32].institutions[0].display_name | Koç University |
| authorships[32].author_position | middle |
| authorships[32].raw_author_name | Hülya Kayserili |
| authorships[32].is_corresponding | False |
| authorships[32].raw_affiliation_strings | Medical Genetics Department, School of Medicine (KUSoM), Koc University, Istanbul, Turkey |
| authorships[33].author.id | https://openalex.org/A5114348902 |
| authorships[33].author.orcid | |
| authorships[33].author.display_name | Yamna Krioulie |
| authorships[33].affiliations[0].raw_affiliation_string | Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children's Hospital, BP 6527 Rabat, Morocco. |
| authorships[33].author_position | middle |
| authorships[33].raw_author_name | Yamna Krioulie |
| authorships[33].is_corresponding | False |
| authorships[33].raw_affiliation_strings | Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children's Hospital, BP 6527 Rabat, Morocco. |
| authorships[34].author.id | https://openalex.org/A5104689677 |
| authorships[34].author.orcid | |
| authorships[34].author.display_name | Wendy K. Chung |
| authorships[34].countries | US |
| authorships[34].affiliations[0].institution_ids | https://openalex.org/I1288882113, https://openalex.org/I136199984 |
| authorships[34].affiliations[0].raw_affiliation_string | Department of Pediatrics, Boston Children Hospital and Harvard Medical School, Boston, USA |
| authorships[34].institutions[0].id | https://openalex.org/I1288882113 |
| authorships[34].institutions[0].ror | https://ror.org/00dvg7y05 |
| authorships[34].institutions[0].type | healthcare |
| authorships[34].institutions[0].lineage | https://openalex.org/I1288882113 |
| authorships[34].institutions[0].country_code | US |
| authorships[34].institutions[0].display_name | Boston Children's Hospital |
| authorships[34].institutions[1].id | https://openalex.org/I136199984 |
| authorships[34].institutions[1].ror | https://ror.org/03vek6s52 |
| authorships[34].institutions[1].type | education |
| authorships[34].institutions[1].lineage | https://openalex.org/I136199984 |
| authorships[34].institutions[1].country_code | US |
| authorships[34].institutions[1].display_name | Harvard University |
| authorships[34].author_position | middle |
| authorships[34].raw_author_name | Wendy K Chung |
| authorships[34].is_corresponding | False |
| authorships[34].raw_affiliation_strings | Department of Pediatrics, Boston Children Hospital and Harvard Medical School, Boston, USA |
| authorships[35].author.id | https://openalex.org/A5036515861 |
| authorships[35].author.orcid | https://orcid.org/0000-0002-1912-0235 |
| authorships[35].author.display_name | Sadaf Naz |
| authorships[35].countries | PK |
| authorships[35].affiliations[0].institution_ids | https://openalex.org/I172780181 |
| authorships[35].affiliations[0].raw_affiliation_string | School of Biological Sciences, University of the Punjab, Lahore, Pakistan |
| authorships[35].institutions[0].id | https://openalex.org/I172780181 |
| authorships[35].institutions[0].ror | https://ror.org/011maz450 |
| authorships[35].institutions[0].type | education |
| authorships[35].institutions[0].lineage | https://openalex.org/I172780181 |
| authorships[35].institutions[0].country_code | PK |
| authorships[35].institutions[0].display_name | University of the Punjab |
| authorships[35].author_position | middle |
| authorships[35].raw_author_name | Sadaf Naz |
| authorships[35].is_corresponding | False |
| authorships[35].raw_affiliation_strings | School of Biological Sciences, University of the Punjab, Lahore, Pakistan |
| authorships[36].author.id | https://openalex.org/A5015848389 |
| authorships[36].author.orcid | https://orcid.org/0000-0003-1454-3623 |
| authorships[36].author.display_name | Shazia Maqbool |
| authorships[36].affiliations[0].raw_affiliation_string | Department of Developmental-Behavioral Pediatrics, The Children's Hospital, (UC HS-CH), University of Child Health Sciences, Lahore 4600, Pakistan. |
| authorships[36].author_position | middle |
| authorships[36].raw_author_name | Shazia Maqbool |
| authorships[36].is_corresponding | False |
| authorships[36].raw_affiliation_strings | Department of Developmental-Behavioral Pediatrics, The Children's Hospital, (UC HS-CH), University of Child Health Sciences, Lahore 4600, Pakistan. |
| authorships[37].author.id | https://openalex.org/A5016278872 |
| authorships[37].author.orcid | https://orcid.org/0000-0002-0889-9220 |
| authorships[37].author.display_name | Joseph G. Gleeson |
| authorships[37].countries | US |
| authorships[37].affiliations[0].institution_ids | https://openalex.org/I1317897188, https://openalex.org/I36258959 |
| authorships[37].affiliations[0].raw_affiliation_string | Department of Neurosciences, University of California, San Diego, La Jolla 92093, USA.Rady Children's Institute for Genomic Medicine, San Diego 92123, USA. |
| authorships[37].institutions[0].id | https://openalex.org/I1317897188 |
| authorships[37].institutions[0].ror | https://ror.org/01kmtg526 |
| authorships[37].institutions[0].type | nonprofit |
| authorships[37].institutions[0].lineage | https://openalex.org/I1317897188 |
| authorships[37].institutions[0].country_code | US |
| authorships[37].institutions[0].display_name | Children’s Institute |
| authorships[37].institutions[1].id | https://openalex.org/I36258959 |
| authorships[37].institutions[1].ror | https://ror.org/0168r3w48 |
| authorships[37].institutions[1].type | education |
| authorships[37].institutions[1].lineage | https://openalex.org/I36258959 |
| authorships[37].institutions[1].country_code | US |
| authorships[37].institutions[1].display_name | University of California, San Diego |
| authorships[37].author_position | middle |
| authorships[37].raw_author_name | Joseph Gleeson |
| authorships[37].is_corresponding | False |
| authorships[37].raw_affiliation_strings | Department of Neurosciences, University of California, San Diego, La Jolla 92093, USA.Rady Children's Institute for Genomic Medicine, San Diego 92123, USA. |
| authorships[38].author.id | https://openalex.org/A5072330638 |
| authorships[38].author.orcid | https://orcid.org/0000-0002-0683-5872 |
| authorships[38].author.display_name | Shahid Mahmood Baig |
| authorships[38].countries | PK |
| authorships[38].affiliations[0].institution_ids | https://openalex.org/I118185606, https://openalex.org/I43763821 |
| authorships[38].affiliations[0].raw_affiliation_string | Faculty of Life Sciences, Health Services Academy, Park Road Islamabad, Pakistan/Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan |
| authorships[38].institutions[0].id | https://openalex.org/I118185606 |
| authorships[38].institutions[0].ror | https://ror.org/03gd0dm95 |
| authorships[38].institutions[0].type | education |
| authorships[38].institutions[0].lineage | https://openalex.org/I118185606, https://openalex.org/I4210114929 |
| authorships[38].institutions[0].country_code | PK |
| authorships[38].institutions[0].display_name | Aga Khan University |
| authorships[38].institutions[1].id | https://openalex.org/I43763821 |
| authorships[38].institutions[1].ror | https://ror.org/02a37xs76 |
| authorships[38].institutions[1].type | healthcare |
| authorships[38].institutions[1].lineage | https://openalex.org/I43763821 |
| authorships[38].institutions[1].country_code | PK |
| authorships[38].institutions[1].display_name | Health Services Academy |
| authorships[38].author_position | middle |
| authorships[38].raw_author_name | Shahid Mahmood Baig |
| authorships[38].is_corresponding | False |
| authorships[38].raw_affiliation_strings | Faculty of Life Sciences, Health Services Academy, Park Road Islamabad, Pakistan/Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan |
| authorships[39].author.id | https://openalex.org/A5027430673 |
| authorships[39].author.orcid | https://orcid.org/0000-0003-4900-9877 |
| authorships[39].author.display_name | Stéphanie Efthymiou |
| authorships[39].countries | GB |
| authorships[39].affiliations[0].institution_ids | https://openalex.org/I4210151618, https://openalex.org/I45129253 |
| authorships[39].affiliations[0].raw_affiliation_string | Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. |
| authorships[39].institutions[0].id | https://openalex.org/I4210151618 |
| authorships[39].institutions[0].ror | https://ror.org/048b34d51 |
| authorships[39].institutions[0].type | healthcare |
| authorships[39].institutions[0].lineage | https://openalex.org/I1340918713, https://openalex.org/I4210151618 |
| authorships[39].institutions[0].country_code | GB |
| authorships[39].institutions[0].display_name | National Hospital for Neurology and Neurosurgery |
| authorships[39].institutions[1].id | https://openalex.org/I45129253 |
| authorships[39].institutions[1].ror | https://ror.org/02jx3x895 |
| authorships[39].institutions[1].type | education |
| authorships[39].institutions[1].lineage | https://openalex.org/I124357947, https://openalex.org/I45129253 |
| authorships[39].institutions[1].country_code | GB |
| authorships[39].institutions[1].display_name | University College London |
| authorships[39].author_position | middle |
| authorships[39].raw_author_name | Stephanie Efthymiou |
| authorships[39].is_corresponding | False |
| authorships[39].raw_affiliation_strings | Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. |
| authorships[40].author.id | https://openalex.org/A5102993016 |
| authorships[40].author.orcid | https://orcid.org/0000-0003-1724-4282 |
| authorships[40].author.display_name | Jenny C Taylor |
| authorships[40].countries | GB |
| authorships[40].affiliations[0].institution_ids | https://openalex.org/I40120149 |
| authorships[40].affiliations[0].raw_affiliation_string | NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, OX3 9DU, UK. |
| authorships[40].institutions[0].id | https://openalex.org/I40120149 |
| authorships[40].institutions[0].ror | https://ror.org/052gg0110 |
| authorships[40].institutions[0].type | education |
| authorships[40].institutions[0].lineage | https://openalex.org/I40120149 |
| authorships[40].institutions[0].country_code | GB |
| authorships[40].institutions[0].display_name | University of Oxford |
| authorships[40].author_position | middle |
| authorships[40].raw_author_name | Jenny C Taylor |
| authorships[40].is_corresponding | False |
| authorships[40].raw_affiliation_strings | NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford, OX3 9DU, UK. |
| authorships[41].author.id | https://openalex.org/A5058520879 |
| authorships[41].author.orcid | https://orcid.org/0000-0003-4730-5322 |
| authorships[41].author.display_name | Mariasavina Severino |
| authorships[41].countries | IT |
| authorships[41].affiliations[0].institution_ids | https://openalex.org/I2801463291, https://openalex.org/I4210153126 |
| authorships[41].affiliations[0].raw_affiliation_string | UO Neuroradiologia, IRCCS Istituto Giannina Gaslini, Genoa, Italy. |
| authorships[41].institutions[0].id | https://openalex.org/I4210153126 |
| authorships[41].institutions[0].ror | https://ror.org/04tfzc498 |
| authorships[41].institutions[0].type | healthcare |
| authorships[41].institutions[0].lineage | https://openalex.org/I4210153126 |
| authorships[41].institutions[0].country_code | IT |
| authorships[41].institutions[0].display_name | Istituti di Ricovero e Cura a Carattere Scientifico |
| authorships[41].institutions[1].id | https://openalex.org/I2801463291 |
| authorships[41].institutions[1].ror | https://ror.org/0424g0k78 |
| authorships[41].institutions[1].type | healthcare |
| authorships[41].institutions[1].lineage | https://openalex.org/I2801463291, https://openalex.org/I4210153126 |
| authorships[41].institutions[1].country_code | IT |
| authorships[41].institutions[1].display_name | Istituto Giannina Gaslini |
| authorships[41].author_position | middle |
| authorships[41].raw_author_name | Mariasavina Severino |
| authorships[41].is_corresponding | False |
| authorships[41].raw_affiliation_strings | UO Neuroradiologia, IRCCS Istituto Giannina Gaslini, Genoa, Italy. |
| authorships[42].author.id | https://openalex.org/A5079479806 |
| authorships[42].author.orcid | https://orcid.org/0000-0002-3357-2801 |
| authorships[42].author.display_name | James E.C. Jepson |
| authorships[42].countries | GB |
| authorships[42].affiliations[0].institution_ids | https://openalex.org/I4210151618, https://openalex.org/I45129253 |
| authorships[42].affiliations[0].raw_affiliation_string | Department of Clinical and Experimental Epilepsy, University College London, Queen Square, Institute of Neurology, WCN 3BG London, UK. |
| authorships[42].institutions[0].id | https://openalex.org/I4210151618 |
| authorships[42].institutions[0].ror | https://ror.org/048b34d51 |
| authorships[42].institutions[0].type | healthcare |
| authorships[42].institutions[0].lineage | https://openalex.org/I1340918713, https://openalex.org/I4210151618 |
| authorships[42].institutions[0].country_code | GB |
| authorships[42].institutions[0].display_name | National Hospital for Neurology and Neurosurgery |
| authorships[42].institutions[1].id | https://openalex.org/I45129253 |
| authorships[42].institutions[1].ror | https://ror.org/02jx3x895 |
| authorships[42].institutions[1].type | education |
| authorships[42].institutions[1].lineage | https://openalex.org/I124357947, https://openalex.org/I45129253 |
| authorships[42].institutions[1].country_code | GB |
| authorships[42].institutions[1].display_name | University College London |
| authorships[42].author_position | middle |
| authorships[42].raw_author_name | James EC Jepson |
| authorships[42].is_corresponding | False |
| authorships[42].raw_affiliation_strings | Department of Clinical and Experimental Epilepsy, University College London, Queen Square, Institute of Neurology, WCN 3BG London, UK. |
| authorships[43].author.id | https://openalex.org/A5082436384 |
| authorships[43].author.orcid | https://orcid.org/0000-0002-2866-7777 |
| authorships[43].author.display_name | Henry Houlden |
| authorships[43].countries | GB |
| authorships[43].affiliations[0].institution_ids | https://openalex.org/I4210151618, https://openalex.org/I45129253 |
| authorships[43].affiliations[0].raw_affiliation_string | Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. |
| authorships[43].institutions[0].id | https://openalex.org/I4210151618 |
| authorships[43].institutions[0].ror | https://ror.org/048b34d51 |
| authorships[43].institutions[0].type | healthcare |
| authorships[43].institutions[0].lineage | https://openalex.org/I1340918713, https://openalex.org/I4210151618 |
| authorships[43].institutions[0].country_code | GB |
| authorships[43].institutions[0].display_name | National Hospital for Neurology and Neurosurgery |
| authorships[43].institutions[1].id | https://openalex.org/I45129253 |
| authorships[43].institutions[1].ror | https://ror.org/02jx3x895 |
| authorships[43].institutions[1].type | education |
| authorships[43].institutions[1].lineage | https://openalex.org/I124357947, https://openalex.org/I45129253 |
| authorships[43].institutions[1].country_code | GB |
| authorships[43].institutions[1].display_name | University College London |
| authorships[43].author_position | last |
| authorships[43].raw_author_name | Henry Houlden |
| authorships[43].is_corresponding | True |
| authorships[43].raw_affiliation_strings | Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. |
| has_content.pdf | True |
| has_content.grobid_xml | False |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | https://www.medrxiv.org/content/medrxiv/early/2024/05/05/2024.05.03.24306631.full.pdf |
| open_access.oa_status | green |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder |
| has_fulltext | False |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T10301 |
| primary_topic.field.id | https://openalex.org/fields/13 |
| primary_topic.field.display_name | Biochemistry, Genetics and Molecular Biology |
| primary_topic.score | 0.9986000061035156 |
| 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 | Mitochondrial Function and Pathology |
| 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 | 3 |
| best_oa_location.id | doi:10.1101/2024.05.03.24306631 |
| 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 |
| best_oa_location.pdf_url | https://www.medrxiv.org/content/medrxiv/early/2024/05/05/2024.05.03.24306631.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 |
| 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/10.1101/2024.05.03.24306631 |
| primary_location.id | doi:10.1101/2024.05.03.24306631 |
| 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 |
| primary_location.pdf_url | https://www.medrxiv.org/content/medrxiv/early/2024/05/05/2024.05.03.24306631.full.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/10.1101/2024.05.03.24306631 |
| publication_date | 2024-05-05 |
| publication_year | 2024 |
| referenced_works | https://openalex.org/W1481014355, https://openalex.org/W4290998656, https://openalex.org/W3124749043, https://openalex.org/W1573010771, https://openalex.org/W2150618856, https://openalex.org/W1993624611, https://openalex.org/W1987283660, https://openalex.org/W2152306422, https://openalex.org/W2050126783, https://openalex.org/W2030132370, https://openalex.org/W2161424290, https://openalex.org/W3008810455, https://openalex.org/W3161734430, https://openalex.org/W4224541029, https://openalex.org/W2170455029, https://openalex.org/W1808711893, https://openalex.org/W2125614047, https://openalex.org/W2048495389, https://openalex.org/W2131413501, https://openalex.org/W4386946136, https://openalex.org/W2063206483, https://openalex.org/W2077479555, https://openalex.org/W2035808397, https://openalex.org/W3118906565, https://openalex.org/W2950770917, https://openalex.org/W2792703463, https://openalex.org/W1973129665, https://openalex.org/W2147921995, https://openalex.org/W2112555770, https://openalex.org/W2765268771, https://openalex.org/W2807884764, https://openalex.org/W1977711551, https://openalex.org/W2007916020, https://openalex.org/W2292452666, https://openalex.org/W2795220243, https://openalex.org/W2051683278, https://openalex.org/W1982166284, https://openalex.org/W2790947724, https://openalex.org/W4280628525, https://openalex.org/W2081092282, https://openalex.org/W4221093737, https://openalex.org/W2908172072, https://openalex.org/W4385953449, https://openalex.org/W4308501680, https://openalex.org/W3000368710, https://openalex.org/W1666203926, https://openalex.org/W2469886129, https://openalex.org/W2911144414, https://openalex.org/W2791873134 |
| referenced_works_count | 49 |
| abstract_inverted_index., | 79, 174, 253 |
| abstract_inverted_index.a | 26, 66, 99, 274 |
| abstract_inverted_index.18 | 72 |
| abstract_inverted_index.28 | 69 |
| abstract_inverted_index.In | 165 |
| abstract_inverted_index.To | 51 |
| abstract_inverted_index.We | 191 |
| abstract_inverted_index.an | 284 |
| abstract_inverted_index.by | 15, 98 |
| abstract_inverted_index.in | 39, 59, 77, 131, 208, 222, 228, 243, 251, 283 |
| abstract_inverted_index.is | 96, 240, 261 |
| abstract_inverted_index.of | 47, 56, 68, 93, 101, 123, 125, 179, 201, 215, 259, 302 |
| abstract_inverted_index.to | 25, 31, 118, 175, 224, 263, 279 |
| abstract_inverted_index.we | 61, 167, 234 |
| abstract_inverted_index.LOF | 75, 196, 304 |
| abstract_inverted_index.Rbf | 184, 195, 238, 260, 265 |
| abstract_inverted_index.The | 90 |
| abstract_inverted_index.and | 63, 103, 109, 120, 128, 145, 162, 189, 211, 217, 254, 276, 289 |
| abstract_inverted_index.are | 4 |
| abstract_inverted_index.for | 248 |
| abstract_inverted_index.has | 22 |
| abstract_inverted_index.how | 177 |
| abstract_inverted_index.its | 225 |
| abstract_inverted_index.key | 126 |
| abstract_inverted_index.may | 299 |
| abstract_inverted_index.new | 82 |
| abstract_inverted_index.six | 40 |
| abstract_inverted_index.the | 53, 87, 169, 180, 209 |
| abstract_inverted_index.(RB) | 2 |
| abstract_inverted_index.RBL2 | 20, 57, 78, 182, 204, 285, 293, 303 |
| abstract_inverted_index.also | 241 |
| abstract_inverted_index.been | 23, 37 |
| abstract_inverted_index.find | 235 |
| abstract_inverted_index.five | 43 |
| abstract_inverted_index.fly, | 171 |
| abstract_inverted_index.from | 71, 116 |
| abstract_inverted_index.gene | 18, 296 |
| abstract_inverted_index.have | 35 |
| abstract_inverted_index.head | 210 |
| abstract_inverted_index.lack | 122 |
| abstract_inverted_index.loss | 46 |
| abstract_inverted_index.most | 132 |
| abstract_inverted_index.only | 36 |
| abstract_inverted_index.play | 10 |
| abstract_inverted_index.role | 227 |
| abstract_inverted_index.that | 9, 84, 193, 236, 255, 291 |
| abstract_inverted_index.this | 271 |
| abstract_inverted_index.used | 168 |
| abstract_inverted_index.were | 112, 152 |
| abstract_inverted_index.Taken | 269 |
| abstract_inverted_index.basis | 278 |
| abstract_inverted_index.brain | 212 |
| abstract_inverted_index.date, | 32 |
| abstract_inverted_index.delay | 108 |
| abstract_inverted_index.found | 192 |
| abstract_inverted_index.fruit | 170 |
| abstract_inverted_index.fully | 244 |
| abstract_inverted_index.known | 226 |
| abstract_inverted_index.loss, | 158 |
| abstract_inverted_index.motor | 127 |
| abstract_inverted_index.range | 100 |
| abstract_inverted_index.roles | 12 |
| abstract_inverted_index.study | 272 |
| abstract_inverted_index.white | 155 |
| abstract_inverted_index.(pLOF) | 49 |
| abstract_inverted_index.Common | 149 |
| abstract_inverted_index.Global | 106 |
| abstract_inverted_index.cohort | 67 |
| abstract_inverted_index.corpus | 159 |
| abstract_inverted_index.define | 52 |
| abstract_inverted_index.during | 13, 232 |
| abstract_inverted_index.growth | 231 |
| abstract_inverted_index.highly | 5 |
| abstract_inverted_index.linked | 24 |
| abstract_inverted_index.matter | 156 |
| abstract_inverted_index.mutant | 266 |
| abstract_inverted_index.normal | 249 |
| abstract_inverted_index.rescue | 264 |
| abstract_inverted_index.severe | 27 |
| abstract_inverted_index.speech | 129 |
| abstract_inverted_index.system | 187 |
| abstract_inverted_index.tissue | 230 |
| abstract_inverted_index.volume | 157 |
| abstract_inverted_index.-linked | 286 |
| abstract_inverted_index.aspects | 301 |
| abstract_inverted_index.broaden | 86 |
| abstract_inverted_index.detail, | 60 |
| abstract_inverted_index.effects | 55 |
| abstract_inverted_index.impacts | 185 |
| abstract_inverted_index.mutants | 197 |
| abstract_inverted_index.nervous | 186 |
| abstract_inverted_index.neurons | 247 |
| abstract_inverted_index.patient | 305 |
| abstract_inverted_index.ranging | 115 |
| abstract_inverted_index.several | 199 |
| abstract_inverted_index.therapy | 297 |
| abstract_inverted_index.through | 295 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.Frequent | 134 |
| abstract_inverted_index.However, | 30 |
| abstract_inverted_index.addition | 223 |
| abstract_inverted_index.affected | 94 |
| abstract_inverted_index.atrophy, | 154 |
| abstract_inverted_index.atrophy. | 164 |
| abstract_inverted_index.callosum | 160 |
| abstract_inverted_index.carrying | 42, 74 |
| abstract_inverted_index.cerebral | 153 |
| abstract_inverted_index.clinical | 33, 91, 275 |
| abstract_inverted_index.defects. | 268 |
| abstract_inverted_index.disorder | 288 |
| abstract_inverted_index.families | 73 |
| abstract_inverted_index.features | 34, 135, 151, 200 |
| abstract_inverted_index.fourteen | 81 |
| abstract_inverted_index.function | 48, 188 |
| abstract_inverted_index.included | 136 |
| abstract_inverted_index.moderate | 117 |
| abstract_inverted_index.neuronal | 257 |
| abstract_inverted_index.patients | 70, 202 |
| abstract_inverted_index.profound | 119 |
| abstract_inverted_index.proteins | 3 |
| abstract_inverted_index.provides | 273 |
| abstract_inverted_index.required | 242 |
| abstract_inverted_index.suggests | 290 |
| abstract_inverted_index.variants | 76, 83 |
| abstract_inverted_index.biallelic | 44 |
| abstract_inverted_index.conserved | 6, 181 |
| abstract_inverted_index.continued | 237 |
| abstract_inverted_index.described | 38 |
| abstract_inverted_index.disorder. | 29 |
| abstract_inverted_index.features. | 148 |
| abstract_inverted_index.harboring | 203 |
| abstract_inverted_index.important | 11 |
| abstract_inverted_index.including | 80, 206 |
| abstract_inverted_index.infantile | 139 |
| abstract_inverted_index.involving | 121 |
| abstract_inverted_index.locomotor | 219, 267 |
| abstract_inverted_index.molecular | 88 |
| abstract_inverted_index.movements | 144 |
| abstract_inverted_index.mutations | 58 |
| abstract_inverted_index.observed, | 114 |
| abstract_inverted_index.parallel, | 166 |
| abstract_inverted_index.patients. | 133 |
| abstract_inverted_index.perturbed | 218 |
| abstract_inverted_index.postnatal | 137 |
| abstract_inverted_index.predicted | 45 |
| abstract_inverted_index.restoring | 292 |
| abstract_inverted_index.spectrum. | 89 |
| abstract_inverted_index.symptoms. | 306 |
| abstract_inverted_index.together, | 270 |
| abstract_inverted_index.uniformly | 113 |
| abstract_inverted_index.variants, | 205 |
| abstract_inverted_index.variants. | 50 |
| abstract_inverted_index.Drosophila | 172, 194, 252 |
| abstract_inverted_index.aggressive | 141 |
| abstract_inverted_index.ameliorate | 300 |
| abstract_inverted_index.approaches | 298 |
| abstract_inverted_index.behaviour, | 142 |
| abstract_inverted_index.behaviour. | 220 |
| abstract_inverted_index.cell-cycle | 17 |
| abstract_inverted_index.cerebellar | 163 |
| abstract_inverted_index.clinically | 64 |
| abstract_inverted_index.disability | 111 |
| abstract_inverted_index.disruption | 178 |
| abstract_inverted_index.dysmorphic | 147 |
| abstract_inverted_index.expression | 239, 294 |
| abstract_inverted_index.hypoplasia | 161 |
| abstract_inverted_index.hypotonia, | 140 |
| abstract_inverted_index.identified | 62 |
| abstract_inverted_index.locomotion | 250 |
| abstract_inverted_index.milestones | 130 |
| abstract_inverted_index.morphology | 213 |
| abstract_inverted_index.phenotypic | 54 |
| abstract_inverted_index.regulating | 16 |
| abstract_inverted_index.regulators | 8 |
| abstract_inverted_index.sufficient | 262 |
| abstract_inverted_index.understand | 280 |
| abstract_inverted_index.acquisition | 124 |
| abstract_inverted_index.adult-stage | 256 |
| abstract_inverted_index.alterations | 207 |
| abstract_inverted_index.controlling | 229 |
| abstract_inverted_index.development | 14 |
| abstract_inverted_index.dysfunction | 21 |
| abstract_inverted_index.expression. | 19 |
| abstract_inverted_index.individuals | 41, 95 |
| abstract_inverted_index.investigate | 176 |
| abstract_inverted_index.reminiscent | 214 |
| abstract_inverted_index.stereotypic | 143 |
| abstract_inverted_index.correlations | 282 |
| abstract_inverted_index.development, | 233 |
| abstract_inverted_index.development. | 190 |
| abstract_inverted_index.experimental | 277 |
| abstract_inverted_index.intellectual | 110 |
| abstract_inverted_index.melanogaster | 173 |
| abstract_inverted_index.neuroimaging | 150 |
| abstract_inverted_index.neurological | 102 |
| abstract_inverted_index.non-specific | 146 |
| abstract_inverted_index.orthologueue | 183 |
| abstract_inverted_index.post-mitotic | 246 |
| abstract_inverted_index.presentation | 92 |
| abstract_inverted_index.recapitulate | 198 |
| abstract_inverted_index.Surprisingly, | 221 |
| abstract_inverted_index.characterized | 65, 97 |
| abstract_inverted_index.developmental | 104, 107 |
| abstract_inverted_index.microcephaly, | 138, 216 |
| abstract_inverted_index.re-expression | 258 |
| abstract_inverted_index.substantially | 85 |
| abstract_inverted_index.Retinoblastoma | 1 |
| abstract_inverted_index.abnormalities. | 105 |
| abstract_inverted_index.differentiated | 245 |
| abstract_inverted_index.transcriptional | 7 |
| abstract_inverted_index.genotype-phenotype | 281 |
| abstract_inverted_index.neurodevelopmental | 28, 287 |
| cited_by_percentile_year | |
| corresponding_author_ids | https://openalex.org/A5082436384 |
| countries_distinct_count | 9 |
| institutions_distinct_count | 44 |
| corresponding_institution_ids | https://openalex.org/I4210151618, https://openalex.org/I45129253 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.4099999964237213 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.08073078 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |