ArticleFrontiers in medicine2024
The genetic cause of neurodevelopmental disorders in 30 consanguineous families.
Article in Frontiers in medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families.BMC neurology · 2026Article
- Epidemiology of progressive intellectual and neurological deterioration in UK children.Developmental medicine and child neurology · 2026Article
- Burden of Neurological Disorders in Resource-Limited Settings: Lessons from Pakistan for Global Neurology.The Yale journal of biology and medicine · 2026Article
- Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.Human mutation · 2026Article
- Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families.European journal of human genetics : EJHG · 2025Article
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Authors and funding
24 authors.
Funding
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Abstract
Objective: This study aims to clinically and genetically assess 30 unrelated consanguineous Pakistani families from various ethnic backgrounds, all exhibiting features of neurodevelopmental disorders (NDDs). Methods: We conducted clinical, genetic, biochemical, and molecular analyses on 30 consanguineous families with NDDs enrolled from various regions of Pakistan. The likely molecular causes of primary microcephaly and NDDs were identified. Detailed clinical investigations and molecular diagnoses were performed using whole exome sequencing (WES) of the proband, followed by Sanger sequencing for validation and segregation in the available family members of the affected families. Results: WES identified likely disease-causing homozygous variants in 30 unrelated consanguineous families. Six families presented newly described variants in known NDD-related genes: Conclusion: In the present study, we observed a high frequency of
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