ArticleMolecular genetics & genomic medicine2018
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Article in Molecular genetics & genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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15 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Pooled it
- Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review.Muscle & nerve · 2026Review
- Genetic diagnosis of Jordanian patients with glycogen storage diseases.Orphanet journal of rare diseases · 2025Article
- A Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological Deficits.Journal of neuroscience research · 2025Article
- Genomic medicine and personalized treatment: a narrative review.Annals of medicine and surgery (2012) · 2025Review
- Article
- Framework for Adoption of Next-Generation Sequencing (NGS) Globally in the Oncology Area.Healthcare (Basel, Switzerland) · 2023Article
- Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS · 2023Article
- Structure and mechanism of NALCN-FAM155A-UNC79-UNC80 channel complex.Nature communications · 2022Article
- A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.Journal of neuromuscular diseases · 2022Article
- Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- NGS in Hereditary Ataxia: When Rare Becomes Frequent.International journal of molecular sciences · 2021Article
- Novel mutations inInternational journal of ophthalmology · 2021Article
- The Lebanese Allele in theJournal of pediatric genetics · 2019Article
- Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.Molecular genetics & genomic medicine · 2018Article
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Authors and funding
24 authors at 11 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAccording to the Catalogue of Transmission Genetics in Arabs, less than half of diseases reported in Lebanese patients are mapped. In the recent years, Next Generation Sequencing (NGS) techniques have significantly improved clinical diagnosis, compared to traditional sequencing methods.
methodsA total of 213 analyses by NGS (167 by whole exome sequencing (WES) and 46 by multigene panels tests) were performed on pediatric patients across different regions of Lebanon over a period of two years (December 2015-December 2017).
resultsNeurological disorders were the most frequent referral demand for both WES and gene panels (122/213). Pathogenic, likely pathogenic, or variants of unknown significance were identified in 69.5% of the WES and panel patients combined. Over half of the patients with such variants had an autosomal recessive disorder. A definite molecular diagnosis (pathogenic or likely pathogenic variants) was achieved in 34.1% and 47.8% of the patients studied by WES and the multigene panels, respectively. Thirty-three novel variants were found in the cases that were molecularly solved; 26 of these being identified by WES and seven by the multigene panels. In three consanguineous families, autosomal recessive inheritance of genes previously reported as showing dominant inheritance patterns were found. Biallelism was found in six cases, digenism in four cases, and one case was trigenic.
conclusionOur study thus suggests that NGS tools are valuable for an improved clinical diagnosis, and highlights that the increased adoption of such techniques will significantly further improve our understanding of the genetic basis of inherited diseases in Lebanon.
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