ArticleGenome medicine2017
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Article in Genome medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 162 papers, 1 of them a synthesis that pooled it.
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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
162 citing papers in PubMed, 1 synthesis or guideline pooled it, 277 citations in OpenAlex.
- GPBP or CERT: The Roles in Autoimmunity, Cancer or Neurodegenerative Disease-A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Are CNV Risk Scores Linked to Neurodevelopmental and Mental Health Characteristics Within CNV-Associated Intellectual Disability?medRxiv : the preprint server for health sciences · 2026Article
- De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.Genome medicine · 2026Article
- Article
- Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy.Neurology. Genetics · 2026Article
- Determinants of DNA-sequence-based Diagnostic Yield in the CSER Consortium.medRxiv : the preprint server for health sciences · 2026Article
- Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.Neurology · 2026Article
- Genetic analysis and reporting from whole-exome sequencing data in 1052 patients with intellectual disability.Journal of molecular medicine (Berlin, Germany) · 2026Article
- CLinNET: An Interpretable and Uncertainty-Aware Deep Learning Framework for Multi-Modal Clinical Genomics.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.International journal of molecular sciences · 2026Article
- Gene4Denovo2: an updated platform for human de novo mutations discovery and interpretation.Nucleic acids research · 2026Article
- Longitudinal Characterization of GiantResearch (Washington, D.C.) · 2026Article
- Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A-Related Intellectual Disability.Molecular genetics & genomic medicine · 2026Article
- A Multi-Center Study: Developing a Nomogram for Predicting Genetic Results of Trio-Based Whole-Exome Sequencing (Trio-WES) in Diagnosing Children with Syndromic Neurodevelopmental Disorders (s-NDDs).International journal of general medicine · 2026Article
- Further phenotypical delineation of DLG3-related neurodevelopmental disorders.European journal of human genetics : EJHG · 2025Article
- Computational Analysis of GAT1 Mutations: Functional Consequences from Molecular Dynamics and Binding Free Energy Calculations.International journal of molecular sciences · 2025Article
- Artificial Intelligence in the Diagnosis of Pediatric Rare Diseases: From Real-World Data Toward a Personalized Medicine Approach.Journal of personalized medicine · 2025Review
- Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review.Journal of neurodevelopmental disorders · 2025Review
- Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns.Journal of neurodevelopmental disorders · 2025Article
- Identification of intragenic variants in pediatric patients with intellectual disability in Peru.BMC medical genomics · 2025Article
102 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
22 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundDevelopmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios.
methodsWhole-exome sequences (WES) were generated for 365 individuals (127 affected) and whole-genome sequences (WGS) were generated for 612 individuals (244 affected).
resultsPathogenic or likely pathogenic variants were found in 100 individuals (27%), with variants of uncertain significance in an additional 42 (11.3%). We found that a family history of neurological disease, especially the presence of an affected first-degree relative, reduces the pathogenic/likely pathogenic variant identification rate, reflecting both the disease relevance and ease of interpretation of de novo variants. We also found that improvements to genetic knowledge facilitated interpretation changes in many cases. Through systematic reanalyses, we have thus far reclassified 15 variants, with 11.3% of families who initially were found to harbor a VUS and 4.7% of families with a negative result eventually found to harbor a pathogenic or likely pathogenic variant. To further such progress, the data described here are being shared through ClinVar, GeneMatcher, and dbGaP.
conclusionsOur data strongly support the value of large-scale sequencing, especially WGS within proband-parent trios, as both an effective first-choice diagnostic tool and means to advance clinical and research progress related to pediatric neurological disease.
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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.