ArticleClinical and experimental pediatrics2020
Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability.
Article in Clinical and experimental pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 47 citations in OpenAlex.
- Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.Genome medicine · 2025Trial
- Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders.Clinical and experimental pediatrics · 2026Article
- Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.Journal of molecular medicine (Berlin, Germany) · 2026Article
- Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing.BMC pediatrics · 2024Article
- Comprehensive evaluation of the child with global developmental delays or intellectual disability.Clinical and experimental pediatrics · 2024Article
- Article
- Molecular pathways and therapeutic strategies in dermatofibrosarcoma protuberans (DFSP): unravelling the tumor's genetic landscape.EXCLI journal · 2024Review
- Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures.Frontiers in genetics · 2024Article
- Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns.Epigenomics · 2024Article
- A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.Neurogenetics · 2023Article
- Loss of function of ADNP by an intragenic inversion.European journal of human genetics : EJHG · 2023Article
- Genetic diagnostic approach to intellectual disability and multiple congenital anomalies in Indonesia.Intractable & rare diseases research · 2023Article
- High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.Genes · 2023Article
- Article
- Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.The Journal of clinical endocrinology and metabolism · 2022Article
- Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis.American journal of obstetrics and gynecology · 2022Article
- Unearthing novel fusions as therapeutic targets in solid tumors using targeted RNA sequencing.Frontiers in oncology · 2022Article
- Article
- Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment.Diagnostics (Basel, Switzerland) · 2021Article
- Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.BMC medical genomics · 2021Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Developments in next-generation sequencing (NGS) techogies have assisted in clarifying the diagnosis and treatment of developmental delay/intellectual disability (DD/ID) via molecular genetic testing. Advances in DNA sequencing technology have not only allowed the evolution of targeted panels but also, and more currently enabled genome-wide analyses to progress from research era to clinical practice. Broad acceptance of accuracy- guided targeted gene panel, whole-exome sequencing (WES), and whole-genome sequencing (WGS) for DD/ID need prospective analyses of the increasing cost-effectiveness versus conventional genetic testing. Choosing the appropriate sequencing method requires individual planning. Data are required to guide best-practice recommendations for genomic testing, regarding various clinical phenotypes in an etiologic approach. Targeted panel testing may be recommended as a first-tier testing approach for children with DD/ID. Family-based trio testing by WES/WGS can be used as a second test for DD/ ID in undiagnosed children who previously tested negative on a targeted panel. The role of NGS in molecular diagnostics, treatment, prediction of prognosis will continue to increase further in the coming years. Given the rapid pace of changes in the past 10 years, all medical providers should be aware of the changes in the transformative genetics field.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.