ArticleMolecular autism2017
Mutations in
Article in Molecular autism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 61 citations in OpenAlex.
- RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies.Annals of clinical and translational neurology · 2026Article
- shinyseg: a web application for flexible cosegregation and sensitivity analysis.Bioinformatics (Oxford, England) · 2024Article
- Recent Therapeutic Gene Editing Applications to Genetic Disorders.Current issues in molecular biology · 2024Review
- Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region.Brain and behavior · 2024Article
- Article
- De novo variants in DENND5B cause a neurodevelopmental disorder.American journal of human genetics · 2024Article
- Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.Human genetics · 2023Article
- Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.International journal of molecular sciences · 2023Review
- Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis.Molecular psychiatry · 2023Article
- Loss of RAB39B does not alter MPTP-induced Parkinson's disease-like phenotypes in mice.Frontiers in aging neuroscience · 2023Article
- Altered offspring neurodevelopment in an L-NAME-induced preeclampsia rat model.Frontiers in pediatrics · 2023Article
- Exome-wide analysis identify multiple variations in olfactory receptor genes (Frontiers in medicine · 2023Article
- Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.Human molecular genetics · 2022Article
- Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort.Neurogenetics · 2022Article
- Research models of neurodevelopmental disorders: The right model in the right place.Frontiers in neuroscience · 2022Review
- A Practical Approach to Early-Onset Parkinsonism.Journal of Parkinson's disease · 2022Review
- RAB39B-mediated trafficking of the GluA2-AMPAR subunit controls dendritic spine maturation and intellectual disability-related behaviour.Molecular psychiatry · 2021Article
- X-chromosome influences on neuroanatomical variation in humans.Nature neuroscience · 2021Article
- Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7.BMC biology · 2021Article
- TheGenes · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 6 institutions in 4 countries.
Funding
Abstract
Background: Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe a family with ASD in which a predicted pathogenic nonsense mutation in the X-chromosome gene Methods: Clinical phenotyping, microarray, and whole genome sequencing (WGS) were performed on the five members of this family. Maternal and female sibling X inactivation ratio was calculated, and phase was investigated. Mutant-induced pluripotent stem cells engineered for an exon 2 nonsense mutation were generated and differentiated into cortical neurons for expression and pathway analyses. Results: Two males with an inherited Conclusions: Penetrance for ASD is high among males but more variable among females with
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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.