ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2015
Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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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
16 citing papers in PubMed.
- CellPHIE: Integrating Pathway Discovery With Pooled Profiling of Perturbations Uncovers Pathways of Huntington's Disease, Including Genetic Modifiers of Neuronal Development and Morphology.bioRxiv : the preprint server for biology · 2025Article
- Autism spectrum disorder and the role of nuclear hormone receptors: insights and therapeutic implications.Frontiers in neuroscience · 2025Review
- Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder.Journal of neurodevelopmental disorders · 2024Article
- Decoding the genetic landscape of autism: A comprehensive review.World journal of clinical pediatrics · 2024Article
- A nonsenseHeliyon · 2024Article
- Multiple Recurrent Copy Number Variations (CNVs) in Chromosome 22 Including 22q11.2 Associated with Autism Spectrum Disorder.Pharmacogenomics and personalized medicine · 2022Article
- Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations.Oman medical journal · 2021Article
- The "Connectivome Theory": A New Model to Understand Autism Spectrum Disorders.Frontiers in psychiatry · 2021Article
- Molecular Mechanisms of Aberrant Neuroplasticity in Autism Spectrum Disorders (Review).Sovremennye tekhnologii v meditsine · 2021Review
- CHD7 regulates cardiovascular development through ATP-dependent and -independent activities.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Prenatal Origins of ASD: The When, What, and How of ASD Development.Trends in neurosciences · 2020Review
- More Than Mortar: Glia as Architects of Nervous System Development and Disease.Frontiers in cell and developmental biology · 2020Review
- Genetics of intellectual disability in consanguineous families.Molecular psychiatry · 2019Article
- A framework for the detection of de novo mutations in family-based sequencing data.European journal of human genetics : EJHG · 2017Article
- ADNP/ADNP2 expression in oligodendrocytes: implication for myelin-related neurodevelopment.Journal of molecular neuroscience : MN · 2015Article
- Therapeutic Advances in Autism and Other Neurodevelopmental Disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2015Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Autism spectrum disorder (ASD) is a group of highly genetic neurodevelopmental disorders characterized by language, social, cognitive, and behavioral abnormalities. ASD is a complex disorder with a heterogeneous etiology. The genetic architecture of autism is such that a variety of different rare mutations have been discovered, including rare monogenic conditions that involve autistic symptoms. Also, de novo copy number variants and single nucleotide variants contribute to disease susceptibility. Finally, autosomal recessive loci are contributing to our understanding of inherited factors. We will review the progress that the field has made in the discovery of these rare genetic variants in autism. We argue that mutation discovery of this sort offers an important opportunity to identify neurodevelopmental mechanisms in disease. The hope is that these mechanisms will show some degree of convergence that may be amenable to treatment intervention.
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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.