ReviewJournal of neurodevelopmental disorders2021
Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders.
Review in Journal of neurodevelopmental disorders, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Progress and challenges in sporadic late-onset cerebellar ataxias.Nature reviews. Neurology · 2025Review
- Joint analysis ofNAR genomics and bioinformatics · 2025Article
- Psychiatric disorders with antiseizure medications in children: an analysis of the FDA adverse event reporting system database.Acta epileptologica · 2025Article
- Unlocking the Potential of RNA Nanoparticles: A Breakthrough Approach to Overcoming Challenges in Colon Cancer Treatment.Current pharmaceutical biotechnology · 2025Review
- MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.American journal of human genetics · 2024Article
- Exploring information needs among family caregivers of children with intellectual disability in a rural area of South Africa: a qualitative study.BMC public health · 2024Article
- Genetic Alterations in a Large Population of Italian Patients Affected by Neurodevelopmental Disorders.Genes · 2024Article
- Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.Molecular genetics & genomic medicine · 2024Article
- Characterizing the autism spectrum phenotype in DYRK1A-related syndrome.Autism research : official journal of the International Society for Autism Research · 2023Article
- Neurodevelopmental disorder with dystonia due to SOX6 mutations.Molecular genetics & genomic medicine · 2022Article
- Validation of Autism Diagnosis and Clinical Data in the SPARK Cohort.Journal of autism and developmental disorders · 2022Article
- Cerebellar and Striatal Implications in Autism Spectrum Disorders: From Clinical Observations to Animal Models.International journal of molecular sciences · 2022Review
- Novel Perspectives towards RNA-Based Nano-Theranostic Approaches for Cancer Management.Nanomaterials (Basel, Switzerland) · 2021Review
- Sleep Abnormalities in the Synaptopathies-Brain sciences · 2021Article
- The Epigenome in Neurodevelopmental Disorders.Frontiers in neuroscience · 2021Review
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
backgroundNeurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and intellectual disability (ID), are common diagnoses with highly heterogeneous phenotypes and etiology. The genetics-first approach to research on NDDs has led to the identification of hundreds of genes conferring risk for ASD, ID, and related symptoms. MAIN BODY: Although relatively few individuals with NDDs share likely gene-disruptive (LGD) mutations in the same gene, characterization of overlapping functions, protein networks, and temporospatial expression patterns among these genes has led to increased understanding of the neurobiological etiology of NDDs. This shift in focus away from single genes and toward broader gene-brain-behavior pathways has been accelerated by the development of publicly available transcriptomic databases, cell type-specific research methods, and sequencing of non-coding genomic regions.
conclusionsThe genetics-first approach to research on NDDs has advanced the identification of critical protein function pathways and temporospatial expression patterns, expanding the impact of this research beyond individuals with single-gene mutations to the broader population of patients with NDDs.
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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.