ArticleNature communications2022
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
Article in Nature communications, 2022. 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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Who cites it
28 citing papers in PubMed, 43 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
- Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.Epilepsia open · 2026Article
- ECHOS enables spatial epigenome profiling at subcellular resolution.bioRxiv : the preprint server for biology · 2026Article
- Escape from X inactivation varies across genes and tissues and shapes sex-biased sex chromosome gene expression.BMC genomics · 2026Article
- Sex in Immune Cells and Parasitic Diseases - A Complex Relationship.Immunological reviews · 2026Review
- Before hormones: early sex-specific mechanisms shaping nervous system development, function, and postnatal disease susceptibility.Frontiers in behavioral neuroscience · 2026Review
- Biological Context-Informed and Population-Stratified Strategies Improve Genetic Diagnosis of CCDC22-Related Disorder.Genetics research · 2026Article
- Physiological functions and pharmacological targeting of transient receptor potential channels.Pharmacological reviews · 2025Review
- Maintenance of stem cell self-renewal by sex chromosomal zinc-finger transcription factors.World journal of methodology · 2024Article
- Thermosensing ability of TRPC5: current knowledge and unsettled questions.The journal of physiological sciences : JPS · 2024Review
- Emerging X-linked genes associated with neurodevelopmental disorders in females.Current opinion in neurobiology · 2024Review
- Maternal high-fat or low-protein diets promote autism-related behavior and altered social behavior within groups in offspring male mice.Scientific reports · 2024Article
- Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.Nature communications · 2024Article
- Compensation of gene dosage on the mammalian X.Development (Cambridge, England) · 2024Review
- Implications of Genetic Factors Underlying Mouse Hydronephrosis: Cautionary Considerations on Phenotypic Interpretation in Genetically Engineered Mice.International journal of molecular sciences · 2024Article
- Bayesian estimation of gene constraint from an evolutionary model with gene features.bioRxiv : the preprint server for biology · 2024Article
- Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.Human genetics · 2024Article
- STIGMA: Single-cell tissue-specific gene prioritization using machine learning.American journal of human genetics · 2024Article
- Direct modulation of TRPC ion channels by Gα proteins.Frontiers in physiology · 2024Review
- Exploring sex differences: insights into gene expression, neuroanatomy, neurochemistry, cognition, and pathology.Frontiers in neuroscience · 2024Review
Corrections and comments
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Authors and funding
37 authors at 13 institutions in 6 countries.
Funding
Abstract
Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes. We observe a higher proportion of disorder-associated genes and an enrichment of genes involved in cognition, language, and seizures on chrX compared to autosomes. We analyze gene constraints, exon and promoter conservation, expression, and paralogues, and report 127 genes sharing one or more attributes with known chrX disorder genes. Using machine learning classifiers trained to distinguish disease-associated from dispensable genes, we classify 247 genes, including 115 of the 127, as having high probability of being disease-associated. We provide evidence of an excess of variants in predicted genes in existing databases. Finally, we report damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism spectrum disorders. This study predicts large-scale gene-disease associations that could be used for prioritization of X-linked pathogenic variants.
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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.