Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families Article Swipe
Ehtisham Ul Haq Makhdoom
,
Haseeb Anwar
,
Shahid Mahmood Baig
,
Ghulam Hussain
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.12669/pjms.38.1.4464
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.12669/pjms.38.1.4464
Background & Objectives: Primary Microcephaly (MCPH) is a rare neurogenetic disease, manifesting congenitally reduced head circumference and non-progressive intellectual disability (ID). To date, twenty-eight genes with biallelic mutations have been reported for this disorder. The study aimed for molecular genetic characterization of Pakistani families segregating MCPH. Methods: We studied two unrelated consanguineous families (family A and B) presenting >2 patients with diagnostic symptoms of MCPH, born to asymptomatic parents. We employed whole-exome sequencing (WES) of probands to find putative causal mutations. The candidate variants were further confirmed and analyzed for co-segregation by Sanger sequencing of all available members of each family. This study was conducted at Government College University, Faisalabad, Pakistan, and Cologne Center for Genomics (CCG), University of Cologne, Germany; during 2017-2020. Results: We identified a novel homozygous variant c.10097_10098delGA, p.(Gly3366Glufs*19) in exon 26 of ASPM gene in family A which presents with moderate intellectual disability, speech impairment, visual abnormalities, seizures, and ptyalism. Family B was found to segregate nonsense, homozygous variant c.448C>T p.(Arg150*) in CDK5RAP2. The patients also exhibited mild to severe seizures without ptyalism that has not been previously reported in patients with mutations in the CDK5RAP2 gene. Conclusion: We report a novel mutation in ASPM and ultra-rare mutation in the CDK5RAP2 gene, both causing primary microcephaly. The study expands the mutational spectrum of the ASPM gene to 212, and also adds to the clinical spectrum of CDK5RAP2 mutations. It also demonstrated the utility of WES in the investigation and genetic diagnosis of genetically heterogeneous disorders like MCPH. These findings would aid in diagnostic and preventive strategies including carrier screening, cascade testing, and genetic counselling. doi: https://doi.org/10.12669/pjms.38.1.4464 How to cite this:Makhdoom EH, Anwar H, Baig SM, Hussain G. Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families. Pak J Med Sci. 2022;38(1):84-89. doi: https://doi.org/10.12669/pjms.38.1.4464 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Related Topics
Concepts
Exome sequencing
Genetics
Sanger sequencing
Microcephaly
Proband
Consanguinity
Medicine
Nonsense mutation
Mutation
Genetic heterogeneity
Intellectual disability
Gene
Biology
Missense mutation
Phenotype
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.12669/pjms.38.1.4464
- http://pjms.org.pk/index.php/pjms/article/download/4464/1180
- OA Status
- gold
- Cited By
- 11
- References
- 23
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3214033346
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W3214033346Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.12669/pjms.38.1.4464Digital Object Identifier
- Title
-
Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani familiesWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-11-19Full publication date if available
- Authors
-
Ehtisham Ul Haq Makhdoom, Haseeb Anwar, Shahid Mahmood Baig, Ghulam HussainList of authors in order
- Landing page
-
https://doi.org/10.12669/pjms.38.1.4464Publisher landing page
- PDF URL
-
https://pjms.org.pk/index.php/pjms/article/download/4464/1180Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://pjms.org.pk/index.php/pjms/article/download/4464/1180Direct OA link when available
- Concepts
-
Exome sequencing, Genetics, Sanger sequencing, Microcephaly, Proband, Consanguinity, Medicine, Nonsense mutation, Mutation, Genetic heterogeneity, Intellectual disability, Gene, Biology, Missense mutation, PhenotypeTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
11Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 4, 2024: 3, 2023: 4Per-year citation counts (last 5 years)
- References (count)
-
23Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
Full payload
| id | https://openalex.org/W3214033346 |
|---|---|
| doi | https://doi.org/10.12669/pjms.38.1.4464 |
| ids.doi | https://doi.org/10.12669/pjms.38.1.4464 |
| ids.mag | 3214033346 |
| ids.pmid | https://pubmed.ncbi.nlm.nih.gov/35035405 |
| ids.openalex | https://openalex.org/W3214033346 |
| fwci | 0.91265789 |
| type | article |
| title | Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families |
| biblio.issue | 1 |
| biblio.volume | 38 |
| biblio.last_page | 89 |
| biblio.first_page | 84 |
| topics[0].id | https://openalex.org/T10492 |
| 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/1307 |
| topics[0].subfield.display_name | Cell Biology |
| topics[0].display_name | Microtubule and mitosis dynamics |
| topics[1].id | https://openalex.org/T11772 |
| topics[1].field.id | https://openalex.org/fields/13 |
| topics[1].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[1].score | 0.9957000017166138 |
| topics[1].domain.id | https://openalex.org/domains/1 |
| topics[1].domain.display_name | Life Sciences |
| topics[1].subfield.id | https://openalex.org/subfields/1311 |
| topics[1].subfield.display_name | Genetics |
| topics[1].display_name | Genetics and Neurodevelopmental Disorders |
| topics[2].id | https://openalex.org/T11642 |
| topics[2].field.id | https://openalex.org/fields/13 |
| topics[2].field.display_name | Biochemistry, Genetics and Molecular Biology |
| topics[2].score | 0.9886999726295471 |
| 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 | Genomics and Rare Diseases |
| is_xpac | False |
| apc_list.value | 400 |
| apc_list.currency | USD |
| apc_list.value_usd | 400 |
| apc_paid.value | 400 |
| apc_paid.currency | USD |
| apc_paid.value_usd | 400 |
| concepts[0].id | https://openalex.org/C16671776 |
| concepts[0].level | 4 |
| concepts[0].score | 0.7874336242675781 |
| concepts[0].wikidata | https://www.wikidata.org/wiki/Q5420592 |
| concepts[0].display_name | Exome sequencing |
| concepts[1].id | https://openalex.org/C54355233 |
| concepts[1].level | 1 |
| concepts[1].score | 0.7551811337471008 |
| concepts[1].wikidata | https://www.wikidata.org/wiki/Q7162 |
| concepts[1].display_name | Genetics |
| concepts[2].id | https://openalex.org/C76818968 |
| concepts[2].level | 4 |
| concepts[2].score | 0.7065203785896301 |
| concepts[2].wikidata | https://www.wikidata.org/wiki/Q181940 |
| concepts[2].display_name | Sanger sequencing |
| concepts[3].id | https://openalex.org/C2776395126 |
| concepts[3].level | 2 |
| concepts[3].score | 0.6448814272880554 |
| concepts[3].wikidata | https://www.wikidata.org/wiki/Q431643 |
| concepts[3].display_name | Microcephaly |
| concepts[4].id | https://openalex.org/C188997412 |
| concepts[4].level | 4 |
| concepts[4].score | 0.6334177851676941 |
| concepts[4].wikidata | https://www.wikidata.org/wiki/Q1640386 |
| concepts[4].display_name | Proband |
| concepts[5].id | https://openalex.org/C2779923321 |
| concepts[5].level | 2 |
| concepts[5].score | 0.5989570021629333 |
| concepts[5].wikidata | https://www.wikidata.org/wiki/Q774347 |
| concepts[5].display_name | Consanguinity |
| concepts[6].id | https://openalex.org/C71924100 |
| concepts[6].level | 0 |
| concepts[6].score | 0.5657474398612976 |
| concepts[6].wikidata | https://www.wikidata.org/wiki/Q11190 |
| concepts[6].display_name | Medicine |
| concepts[7].id | https://openalex.org/C96777560 |
| concepts[7].level | 5 |
| concepts[7].score | 0.5300552248954773 |
| concepts[7].wikidata | https://www.wikidata.org/wiki/Q518638 |
| concepts[7].display_name | Nonsense mutation |
| concepts[8].id | https://openalex.org/C501734568 |
| concepts[8].level | 3 |
| concepts[8].score | 0.519809365272522 |
| concepts[8].wikidata | https://www.wikidata.org/wiki/Q42918 |
| concepts[8].display_name | Mutation |
| concepts[9].id | https://openalex.org/C64618202 |
| concepts[9].level | 4 |
| concepts[9].score | 0.507794201374054 |
| concepts[9].wikidata | https://www.wikidata.org/wiki/Q3733697 |
| concepts[9].display_name | Genetic heterogeneity |
| concepts[10].id | https://openalex.org/C551499885 |
| concepts[10].level | 2 |
| concepts[10].score | 0.4501939117908478 |
| concepts[10].wikidata | https://www.wikidata.org/wiki/Q183560 |
| concepts[10].display_name | Intellectual disability |
| concepts[11].id | https://openalex.org/C104317684 |
| concepts[11].level | 2 |
| concepts[11].score | 0.3021073043346405 |
| concepts[11].wikidata | https://www.wikidata.org/wiki/Q7187 |
| concepts[11].display_name | Gene |
| concepts[12].id | https://openalex.org/C86803240 |
| concepts[12].level | 0 |
| concepts[12].score | 0.299715518951416 |
| concepts[12].wikidata | https://www.wikidata.org/wiki/Q420 |
| concepts[12].display_name | Biology |
| concepts[13].id | https://openalex.org/C75563809 |
| concepts[13].level | 4 |
| concepts[13].score | 0.16316905617713928 |
| concepts[13].wikidata | https://www.wikidata.org/wiki/Q2656896 |
| concepts[13].display_name | Missense mutation |
| concepts[14].id | https://openalex.org/C127716648 |
| concepts[14].level | 3 |
| concepts[14].score | 0.07777959108352661 |
| concepts[14].wikidata | https://www.wikidata.org/wiki/Q104053 |
| concepts[14].display_name | Phenotype |
| keywords[0].id | https://openalex.org/keywords/exome-sequencing |
| keywords[0].score | 0.7874336242675781 |
| keywords[0].display_name | Exome sequencing |
| keywords[1].id | https://openalex.org/keywords/genetics |
| keywords[1].score | 0.7551811337471008 |
| keywords[1].display_name | Genetics |
| keywords[2].id | https://openalex.org/keywords/sanger-sequencing |
| keywords[2].score | 0.7065203785896301 |
| keywords[2].display_name | Sanger sequencing |
| keywords[3].id | https://openalex.org/keywords/microcephaly |
| keywords[3].score | 0.6448814272880554 |
| keywords[3].display_name | Microcephaly |
| keywords[4].id | https://openalex.org/keywords/proband |
| keywords[4].score | 0.6334177851676941 |
| keywords[4].display_name | Proband |
| keywords[5].id | https://openalex.org/keywords/consanguinity |
| keywords[5].score | 0.5989570021629333 |
| keywords[5].display_name | Consanguinity |
| keywords[6].id | https://openalex.org/keywords/medicine |
| keywords[6].score | 0.5657474398612976 |
| keywords[6].display_name | Medicine |
| keywords[7].id | https://openalex.org/keywords/nonsense-mutation |
| keywords[7].score | 0.5300552248954773 |
| keywords[7].display_name | Nonsense mutation |
| keywords[8].id | https://openalex.org/keywords/mutation |
| keywords[8].score | 0.519809365272522 |
| keywords[8].display_name | Mutation |
| keywords[9].id | https://openalex.org/keywords/genetic-heterogeneity |
| keywords[9].score | 0.507794201374054 |
| keywords[9].display_name | Genetic heterogeneity |
| keywords[10].id | https://openalex.org/keywords/intellectual-disability |
| keywords[10].score | 0.4501939117908478 |
| keywords[10].display_name | Intellectual disability |
| keywords[11].id | https://openalex.org/keywords/gene |
| keywords[11].score | 0.3021073043346405 |
| keywords[11].display_name | Gene |
| keywords[12].id | https://openalex.org/keywords/biology |
| keywords[12].score | 0.299715518951416 |
| keywords[12].display_name | Biology |
| keywords[13].id | https://openalex.org/keywords/missense-mutation |
| keywords[13].score | 0.16316905617713928 |
| keywords[13].display_name | Missense mutation |
| keywords[14].id | https://openalex.org/keywords/phenotype |
| keywords[14].score | 0.07777959108352661 |
| keywords[14].display_name | Phenotype |
| language | en |
| locations[0].id | doi:10.12669/pjms.38.1.4464 |
| locations[0].is_oa | True |
| locations[0].source.id | https://openalex.org/S83180243 |
| locations[0].source.issn | 1681-715X, 1682-024X |
| locations[0].source.type | journal |
| locations[0].source.is_oa | True |
| locations[0].source.issn_l | 1681-715X |
| locations[0].source.is_core | True |
| locations[0].source.is_in_doaj | True |
| locations[0].source.display_name | Pakistan Journal of Medical Sciences |
| locations[0].source.host_organization | https://openalex.org/P4310319271 |
| locations[0].source.host_organization_name | Professional Medical Publications |
| locations[0].source.host_organization_lineage | https://openalex.org/P4310319271 |
| locations[0].license | cc-by |
| locations[0].pdf_url | http://pjms.org.pk/index.php/pjms/article/download/4464/1180 |
| locations[0].version | publishedVersion |
| locations[0].raw_type | journal-article |
| locations[0].license_id | https://openalex.org/licenses/cc-by |
| locations[0].is_accepted | True |
| locations[0].is_published | True |
| locations[0].raw_source_name | Pakistan Journal of Medical Sciences |
| locations[0].landing_page_url | https://doi.org/10.12669/pjms.38.1.4464 |
| locations[1].id | pmid:35035405 |
| 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 | Pakistan journal of medical sciences |
| locations[1].landing_page_url | https://pubmed.ncbi.nlm.nih.gov/35035405 |
| locations[2].id | pmh:oai:ecommons.aku.edu:pakistan_fhs_mc_bbs-1959 |
| locations[2].is_oa | True |
| locations[2].source.id | https://openalex.org/S4377196301 |
| 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 | eCommons - AKU (Aga Khan University) |
| locations[2].source.host_organization | https://openalex.org/I118185606 |
| locations[2].source.host_organization_name | Aga Khan University |
| locations[2].source.host_organization_lineage | https://openalex.org/I118185606 |
| locations[2].license | cc-by |
| locations[2].pdf_url | |
| locations[2].version | submittedVersion |
| locations[2].raw_type | article |
| locations[2].license_id | https://openalex.org/licenses/cc-by |
| locations[2].is_accepted | False |
| locations[2].is_published | False |
| locations[2].raw_source_name | Department of Biological & Biomedical Sciences |
| locations[2].landing_page_url | https://ecommons.aku.edu/pakistan_fhs_mc_bbs/960 |
| locations[3].id | pmh:oai:pubmedcentral.nih.gov:8713189 |
| locations[3].is_oa | True |
| locations[3].source.id | https://openalex.org/S2764455111 |
| locations[3].source.issn | |
| locations[3].source.type | repository |
| locations[3].source.is_oa | False |
| locations[3].source.issn_l | |
| locations[3].source.is_core | False |
| locations[3].source.is_in_doaj | False |
| locations[3].source.display_name | PubMed Central |
| locations[3].source.host_organization | https://openalex.org/I1299303238 |
| locations[3].source.host_organization_name | National Institutes of Health |
| locations[3].source.host_organization_lineage | https://openalex.org/I1299303238 |
| locations[3].license | other-oa |
| locations[3].pdf_url | |
| locations[3].version | submittedVersion |
| locations[3].raw_type | Text |
| locations[3].license_id | https://openalex.org/licenses/other-oa |
| locations[3].is_accepted | False |
| locations[3].is_published | False |
| locations[3].raw_source_name | Pak J Med Sci |
| locations[3].landing_page_url | https://www.ncbi.nlm.nih.gov/pmc/articles/8713189 |
| indexed_in | crossref, doaj, pubmed |
| authorships[0].author.id | https://openalex.org/A5002050334 |
| authorships[0].author.orcid | https://orcid.org/0000-0002-4865-6194 |
| authorships[0].author.display_name | Ehtisham Ul Haq Makhdoom |
| authorships[0].countries | PK |
| authorships[0].affiliations[0].institution_ids | https://openalex.org/I194348271 |
| authorships[0].affiliations[0].raw_affiliation_string | Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, 38000, Faisalabad, Pakistan |
| authorships[0].institutions[0].id | https://openalex.org/I194348271 |
| authorships[0].institutions[0].ror | https://ror.org/051zgra59 |
| authorships[0].institutions[0].type | education |
| authorships[0].institutions[0].lineage | https://openalex.org/I194348271 |
| authorships[0].institutions[0].country_code | PK |
| authorships[0].institutions[0].display_name | Government College University, Faisalabad |
| authorships[0].author_position | first |
| authorships[0].raw_author_name | Ehtisham ul Haq Makhdoom |
| authorships[0].is_corresponding | False |
| authorships[0].raw_affiliation_strings | Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, 38000, Faisalabad, Pakistan |
| authorships[1].author.id | https://openalex.org/A5063811019 |
| authorships[1].author.orcid | https://orcid.org/0000-0001-8438-9700 |
| authorships[1].author.display_name | Haseeb Anwar |
| authorships[1].countries | PK |
| authorships[1].affiliations[0].institution_ids | https://openalex.org/I194348271 |
| authorships[1].affiliations[0].raw_affiliation_string | Department of Physiology, Faculty of Life Sciences, Government College University, 38000, Faisalabad, Pakistan |
| authorships[1].institutions[0].id | https://openalex.org/I194348271 |
| authorships[1].institutions[0].ror | https://ror.org/051zgra59 |
| authorships[1].institutions[0].type | education |
| authorships[1].institutions[0].lineage | https://openalex.org/I194348271 |
| authorships[1].institutions[0].country_code | PK |
| authorships[1].institutions[0].display_name | Government College University, Faisalabad |
| authorships[1].author_position | middle |
| authorships[1].raw_author_name | Haseeb Anwar |
| authorships[1].is_corresponding | False |
| authorships[1].raw_affiliation_strings | Department of Physiology, Faculty of Life Sciences, Government College University, 38000, Faisalabad, Pakistan |
| authorships[2].author.id | https://openalex.org/A5072330638 |
| authorships[2].author.orcid | https://orcid.org/0000-0002-0683-5872 |
| authorships[2].author.display_name | Shahid Mahmood Baig |
| authorships[2].countries | PK |
| authorships[2].affiliations[0].institution_ids | https://openalex.org/I2803060773 |
| authorships[2].affiliations[0].raw_affiliation_string | Pakistan Science Foundation, Constitution Avenue, Islamabad, Pakistan |
| authorships[2].institutions[0].id | https://openalex.org/I2803060773 |
| authorships[2].institutions[0].ror | https://ror.org/04srehp09 |
| authorships[2].institutions[0].type | government |
| authorships[2].institutions[0].lineage | https://openalex.org/I2803060773 |
| authorships[2].institutions[0].country_code | PK |
| authorships[2].institutions[0].display_name | Pakistan Science Foundation |
| authorships[2].author_position | middle |
| authorships[2].raw_author_name | Shahid Mahmood Baig |
| authorships[2].is_corresponding | False |
| authorships[2].raw_affiliation_strings | Pakistan Science Foundation, Constitution Avenue, Islamabad, Pakistan |
| authorships[3].author.id | https://openalex.org/A5072337975 |
| authorships[3].author.orcid | https://orcid.org/0000-0001-9090-7789 |
| authorships[3].author.display_name | Ghulam Hussain |
| authorships[3].countries | PK |
| authorships[3].affiliations[0].institution_ids | https://openalex.org/I194348271 |
| authorships[3].affiliations[0].raw_affiliation_string | Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Government College University, Faisalabad |
| authorships[3].institutions[0].id | https://openalex.org/I194348271 |
| authorships[3].institutions[0].ror | https://ror.org/051zgra59 |
| authorships[3].institutions[0].type | education |
| authorships[3].institutions[0].lineage | https://openalex.org/I194348271 |
| authorships[3].institutions[0].country_code | PK |
| authorships[3].institutions[0].display_name | Government College University, Faisalabad |
| authorships[3].author_position | last |
| authorships[3].raw_author_name | Ghulam Hussain |
| authorships[3].is_corresponding | False |
| authorships[3].raw_affiliation_strings | Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Government College University, Faisalabad |
| has_content.pdf | True |
| has_content.grobid_xml | True |
| is_paratext | False |
| open_access.is_oa | True |
| open_access.oa_url | http://pjms.org.pk/index.php/pjms/article/download/4464/1180 |
| open_access.oa_status | gold |
| open_access.any_repository_has_fulltext | False |
| created_date | 2025-10-10T00:00:00 |
| display_name | Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families |
| has_fulltext | True |
| is_retracted | False |
| updated_date | 2025-11-06T03:46:38.306776 |
| primary_topic.id | https://openalex.org/T10492 |
| 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/1307 |
| primary_topic.subfield.display_name | Cell Biology |
| primary_topic.display_name | Microtubule and mitosis dynamics |
| related_works | https://openalex.org/W4231639812, https://openalex.org/W2033073781, https://openalex.org/W2114338315, https://openalex.org/W2016392786, https://openalex.org/W4255159966, https://openalex.org/W1982880131, https://openalex.org/W2084461086, https://openalex.org/W2375934931, https://openalex.org/W2141880264, https://openalex.org/W2808660817 |
| cited_by_count | 11 |
| counts_by_year[0].year | 2025 |
| counts_by_year[0].cited_by_count | 4 |
| counts_by_year[1].year | 2024 |
| counts_by_year[1].cited_by_count | 3 |
| counts_by_year[2].year | 2023 |
| counts_by_year[2].cited_by_count | 4 |
| locations_count | 4 |
| best_oa_location.id | doi:10.12669/pjms.38.1.4464 |
| best_oa_location.is_oa | True |
| best_oa_location.source.id | https://openalex.org/S83180243 |
| best_oa_location.source.issn | 1681-715X, 1682-024X |
| best_oa_location.source.type | journal |
| best_oa_location.source.is_oa | True |
| best_oa_location.source.issn_l | 1681-715X |
| best_oa_location.source.is_core | True |
| best_oa_location.source.is_in_doaj | True |
| best_oa_location.source.display_name | Pakistan Journal of Medical Sciences |
| best_oa_location.source.host_organization | https://openalex.org/P4310319271 |
| best_oa_location.source.host_organization_name | Professional Medical Publications |
| best_oa_location.source.host_organization_lineage | https://openalex.org/P4310319271 |
| best_oa_location.license | cc-by |
| best_oa_location.pdf_url | http://pjms.org.pk/index.php/pjms/article/download/4464/1180 |
| best_oa_location.version | publishedVersion |
| best_oa_location.raw_type | journal-article |
| best_oa_location.license_id | https://openalex.org/licenses/cc-by |
| best_oa_location.is_accepted | True |
| best_oa_location.is_published | True |
| best_oa_location.raw_source_name | Pakistan Journal of Medical Sciences |
| best_oa_location.landing_page_url | https://doi.org/10.12669/pjms.38.1.4464 |
| primary_location.id | doi:10.12669/pjms.38.1.4464 |
| primary_location.is_oa | True |
| primary_location.source.id | https://openalex.org/S83180243 |
| primary_location.source.issn | 1681-715X, 1682-024X |
| primary_location.source.type | journal |
| primary_location.source.is_oa | True |
| primary_location.source.issn_l | 1681-715X |
| primary_location.source.is_core | True |
| primary_location.source.is_in_doaj | True |
| primary_location.source.display_name | Pakistan Journal of Medical Sciences |
| primary_location.source.host_organization | https://openalex.org/P4310319271 |
| primary_location.source.host_organization_name | Professional Medical Publications |
| primary_location.source.host_organization_lineage | https://openalex.org/P4310319271 |
| primary_location.license | cc-by |
| primary_location.pdf_url | http://pjms.org.pk/index.php/pjms/article/download/4464/1180 |
| primary_location.version | publishedVersion |
| primary_location.raw_type | journal-article |
| primary_location.license_id | https://openalex.org/licenses/cc-by |
| primary_location.is_accepted | True |
| primary_location.is_published | True |
| primary_location.raw_source_name | Pakistan Journal of Medical Sciences |
| primary_location.landing_page_url | https://doi.org/10.12669/pjms.38.1.4464 |
| publication_date | 2021-11-19 |
| publication_year | 2021 |
| referenced_works | https://openalex.org/W2891792152, https://openalex.org/W2005889749, https://openalex.org/W3042682951, https://openalex.org/W4288400169, https://openalex.org/W2141972190, https://openalex.org/W1992444794, https://openalex.org/W2061445259, https://openalex.org/W2754499459, https://openalex.org/W2165800754, https://openalex.org/W2049088140, https://openalex.org/W2977963060, https://openalex.org/W2562496875, https://openalex.org/W3127291733, https://openalex.org/W2112608400, https://openalex.org/W2082746701, https://openalex.org/W2055803972, https://openalex.org/W2002429803, https://openalex.org/W2317009739, https://openalex.org/W2605955773, https://openalex.org/W2138170649, https://openalex.org/W2739796107, https://openalex.org/W2888731071, https://openalex.org/W2033184417 |
| referenced_works_count | 23 |
| abstract_inverted_index.A | 54, 140 |
| abstract_inverted_index.B | 155 |
| abstract_inverted_index.J | 303 |
| abstract_inverted_index.a | 7, 126, 194, 285 |
| abstract_inverted_index.26 | 134 |
| abstract_inverted_index.B) | 56 |
| abstract_inverted_index.G. | 280 |
| abstract_inverted_index.H, | 276 |
| abstract_inverted_index.It | 232 |
| abstract_inverted_index.To | 21 |
| abstract_inverted_index.We | 47, 69, 124, 192 |
| abstract_inverted_index.an | 311 |
| abstract_inverted_index.at | 105 |
| abstract_inverted_index.by | 91 |
| abstract_inverted_index.in | 132, 138, 165, 183, 187, 197, 202, 239, 255, 288, 293, 298, 333 |
| abstract_inverted_index.is | 6, 310, 340 |
| abstract_inverted_index.of | 41, 63, 74, 94, 98, 118, 135, 216, 229, 237, 245, 319 |
| abstract_inverted_index.to | 66, 76, 158, 172, 220, 225, 271 |
| abstract_inverted_index.EH, | 274 |
| abstract_inverted_index.How | 270 |
| abstract_inverted_index.Med | 304 |
| abstract_inverted_index.Pak | 302 |
| abstract_inverted_index.SM, | 278 |
| abstract_inverted_index.The | 34, 81, 167, 210 |
| abstract_inverted_index.WES | 238 |
| abstract_inverted_index.aid | 254 |
| abstract_inverted_index.all | 95 |
| abstract_inverted_index.and | 16, 55, 87, 111, 152, 199, 222, 242, 257, 265, 290, 331 |
| abstract_inverted_index.any | 334 |
| abstract_inverted_index.for | 31, 37, 89, 114 |
| abstract_inverted_index.has | 178 |
| abstract_inverted_index.not | 179 |
| abstract_inverted_index.the | 188, 203, 213, 217, 226, 235, 240, 317, 320, 337 |
| abstract_inverted_index.two | 49 |
| abstract_inverted_index.was | 103, 156 |
| abstract_inverted_index.212, | 221 |
| abstract_inverted_index.ASPM | 136, 198, 218, 289 |
| abstract_inverted_index.Baig | 277 |
| abstract_inverted_index.Open | 312 |
| abstract_inverted_index.Sci. | 305 |
| abstract_inverted_index.This | 101, 309 |
| abstract_inverted_index.adds | 224 |
| abstract_inverted_index.also | 169, 223, 233 |
| abstract_inverted_index.been | 29, 180 |
| abstract_inverted_index.born | 65 |
| abstract_inverted_index.both | 206 |
| abstract_inverted_index.cite | 272 |
| abstract_inverted_index.doi: | 268, 307 |
| abstract_inverted_index.each | 99 |
| abstract_inverted_index.exon | 133 |
| abstract_inverted_index.find | 77 |
| abstract_inverted_index.gene | 137, 219 |
| abstract_inverted_index.have | 28 |
| abstract_inverted_index.head | 14 |
| abstract_inverted_index.like | 249 |
| abstract_inverted_index.mild | 171 |
| abstract_inverted_index.rare | 8 |
| abstract_inverted_index.that | 177 |
| abstract_inverted_index.this | 32 |
| abstract_inverted_index.use, | 329 |
| abstract_inverted_index.were | 84 |
| abstract_inverted_index.with | 25, 60, 143, 185 |
| abstract_inverted_index.work | 339 |
| abstract_inverted_index.& | 1 |
| abstract_inverted_index.>2 | 58 |
| abstract_inverted_index.(ID). | 20 |
| abstract_inverted_index.(WES) | 73 |
| abstract_inverted_index.Anwar | 275 |
| abstract_inverted_index.MCPH, | 64 |
| abstract_inverted_index.MCPH. | 45, 250 |
| abstract_inverted_index.These | 251 |
| abstract_inverted_index.Whole | 281 |
| abstract_inverted_index.aimed | 36 |
| abstract_inverted_index.date, | 22 |
| abstract_inverted_index.exome | 282 |
| abstract_inverted_index.found | 157 |
| abstract_inverted_index.gene, | 205 |
| abstract_inverted_index.gene. | 190 |
| abstract_inverted_index.genes | 24 |
| abstract_inverted_index.novel | 127, 195, 286 |
| abstract_inverted_index.study | 35, 102, 211 |
| abstract_inverted_index.terms | 318 |
| abstract_inverted_index.under | 316 |
| abstract_inverted_index.which | 141, 326 |
| abstract_inverted_index.would | 253 |
| abstract_inverted_index.(CCG), | 116 |
| abstract_inverted_index.(MCPH) | 5 |
| abstract_inverted_index.Access | 313 |
| abstract_inverted_index.Center | 113 |
| abstract_inverted_index.Family | 154 |
| abstract_inverted_index.Sanger | 92 |
| abstract_inverted_index.causal | 79 |
| abstract_inverted_index.cited. | 342 |
| abstract_inverted_index.during | 121 |
| abstract_inverted_index.family | 139 |
| abstract_inverted_index.report | 193 |
| abstract_inverted_index.severe | 173 |
| abstract_inverted_index.speech | 147 |
| abstract_inverted_index.visual | 149 |
| abstract_inverted_index.(family | 53 |
| abstract_inverted_index.College | 107 |
| abstract_inverted_index.Cologne | 112 |
| abstract_inverted_index.Commons | 322 |
| abstract_inverted_index.Hussain | 279 |
| abstract_inverted_index.License | 324 |
| abstract_inverted_index.Primary | 3, 296 |
| abstract_inverted_index.article | 314 |
| abstract_inverted_index.carrier | 261 |
| abstract_inverted_index.cascade | 263 |
| abstract_inverted_index.causing | 207, 295 |
| abstract_inverted_index.expands | 212 |
| abstract_inverted_index.family. | 100 |
| abstract_inverted_index.further | 85 |
| abstract_inverted_index.genetic | 39, 243, 266 |
| abstract_inverted_index.medium, | 335 |
| abstract_inverted_index.members | 97 |
| abstract_inverted_index.permits | 327 |
| abstract_inverted_index.primary | 208 |
| abstract_inverted_index.reduced | 13 |
| abstract_inverted_index.studied | 48 |
| abstract_inverted_index.utility | 236 |
| abstract_inverted_index.variant | 129, 162 |
| abstract_inverted_index.without | 175 |
| abstract_inverted_index.CDK5RAP2 | 189, 204, 230, 294 |
| abstract_inverted_index.Cologne, | 119 |
| abstract_inverted_index.Creative | 321 |
| abstract_inverted_index.Genomics | 115 |
| abstract_inverted_index.Germany; | 120 |
| abstract_inverted_index.Methods: | 46 |
| abstract_inverted_index.Results: | 123 |
| abstract_inverted_index.analyzed | 88 |
| abstract_inverted_index.clinical | 227 |
| abstract_inverted_index.disease, | 10 |
| abstract_inverted_index.employed | 70 |
| abstract_inverted_index.families | 43, 52 |
| abstract_inverted_index.findings | 252 |
| abstract_inverted_index.moderate | 144 |
| abstract_inverted_index.mutation | 196, 201, 287, 292 |
| abstract_inverted_index.original | 338 |
| abstract_inverted_index.parents. | 68 |
| abstract_inverted_index.patients | 59, 168, 184 |
| abstract_inverted_index.presents | 142 |
| abstract_inverted_index.probands | 75 |
| abstract_inverted_index.properly | 341 |
| abstract_inverted_index.provided | 336 |
| abstract_inverted_index.ptyalism | 176 |
| abstract_inverted_index.putative | 78 |
| abstract_inverted_index.reported | 30, 182 |
| abstract_inverted_index.seizures | 174 |
| abstract_inverted_index.spectrum | 215, 228 |
| abstract_inverted_index.symptoms | 62 |
| abstract_inverted_index.testing, | 264 |
| abstract_inverted_index.variants | 83 |
| abstract_inverted_index.CDK5RAP2. | 166 |
| abstract_inverted_index.Pakistan, | 110 |
| abstract_inverted_index.Pakistani | 42, 300 |
| abstract_inverted_index.available | 96 |
| abstract_inverted_index.biallelic | 26 |
| abstract_inverted_index.candidate | 82 |
| abstract_inverted_index.conducted | 104 |
| abstract_inverted_index.confirmed | 86 |
| abstract_inverted_index.diagnosis | 244 |
| abstract_inverted_index.disorder. | 33 |
| abstract_inverted_index.disorders | 248 |
| abstract_inverted_index.exhibited | 170 |
| abstract_inverted_index.families. | 301 |
| abstract_inverted_index.including | 260 |
| abstract_inverted_index.molecular | 38 |
| abstract_inverted_index.mutations | 27, 186 |
| abstract_inverted_index.nonsense, | 160 |
| abstract_inverted_index.ptyalism. | 153 |
| abstract_inverted_index.segregate | 159 |
| abstract_inverted_index.seizures, | 151 |
| abstract_inverted_index.unrelated | 50 |
| abstract_inverted_index.2017-2020. | 122 |
| abstract_inverted_index.Background | 0 |
| abstract_inverted_index.Government | 106 |
| abstract_inverted_index.University | 117 |
| abstract_inverted_index.diagnostic | 61, 256 |
| abstract_inverted_index.disability | 19 |
| abstract_inverted_index.homozygous | 128, 161 |
| abstract_inverted_index.identified | 125 |
| abstract_inverted_index.identifies | 284 |
| abstract_inverted_index.mutational | 214 |
| abstract_inverted_index.mutations. | 80, 231 |
| abstract_inverted_index.presenting | 57 |
| abstract_inverted_index.preventive | 258 |
| abstract_inverted_index.previously | 181 |
| abstract_inverted_index.screening, | 262 |
| abstract_inverted_index.sequencing | 72, 93, 283 |
| abstract_inverted_index.strategies | 259 |
| abstract_inverted_index.ultra-rare | 200, 291 |
| abstract_inverted_index.Attribution | 323 |
| abstract_inverted_index.Conclusion: | 191 |
| abstract_inverted_index.Faisalabad, | 109 |
| abstract_inverted_index.Objectives: | 2 |
| abstract_inverted_index.University, | 108 |
| abstract_inverted_index.c.448C>T | 163 |
| abstract_inverted_index.disability, | 146 |
| abstract_inverted_index.distributed | 315 |
| abstract_inverted_index.genetically | 246 |
| abstract_inverted_index.impairment, | 148 |
| abstract_inverted_index.manifesting | 11 |
| abstract_inverted_index.p.(Arg150*) | 164 |
| abstract_inverted_index.segregating | 44 |
| abstract_inverted_index.whole-exome | 71 |
| abstract_inverted_index.Microcephaly | 4 |
| abstract_inverted_index.asymptomatic | 67 |
| abstract_inverted_index.congenitally | 12 |
| abstract_inverted_index.counselling. | 267 |
| abstract_inverted_index.demonstrated | 234 |
| abstract_inverted_index.intellectual | 18, 145 |
| abstract_inverted_index.microcephaly | 297 |
| abstract_inverted_index.neurogenetic | 9 |
| abstract_inverted_index.reproduction | 332 |
| abstract_inverted_index.twenty-eight | 23 |
| abstract_inverted_index.unrestricted | 328 |
| abstract_inverted_index.circumference | 15 |
| abstract_inverted_index.distribution, | 330 |
| abstract_inverted_index.heterogeneous | 247 |
| abstract_inverted_index.investigation | 241 |
| abstract_inverted_index.microcephaly. | 209 |
| abstract_inverted_index.this:Makhdoom | 273 |
| abstract_inverted_index.abnormalities, | 150 |
| abstract_inverted_index.co-segregation | 90 |
| abstract_inverted_index.consanguineous | 51, 299 |
| abstract_inverted_index.non-progressive | 17 |
| abstract_inverted_index.characterization | 40 |
| abstract_inverted_index.2022;38(1):84-89. | 306 |
| abstract_inverted_index.c.10097_10098delGA, | 130 |
| abstract_inverted_index.p.(Gly3366Glufs*19) | 131 |
| abstract_inverted_index.https://doi.org/10.12669/pjms.38.1.4464 | 269, 308 |
| abstract_inverted_index.(http://creativecommons.org/licenses/by/3.0), | 325 |
| cited_by_percentile_year.max | 98 |
| cited_by_percentile_year.min | 96 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 4 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/4 |
| sustainable_development_goals[0].score | 0.49000000953674316 |
| sustainable_development_goals[0].display_name | Quality Education |
| citation_normalized_percentile.value | 0.68767535 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |