| Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus |
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| Chromosome X-wide common variant association study in autism spectrum disorder |
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| DNA methylation-based predictors of metabolic traits in Scottish and Singaporean cohorts |
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| Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype |
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| TEMR: Trans-ethnic mendelian randomization method using large-scale GWAS summary datasets |
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Trans-ethnic |
| Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0 |
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| Demographic history and genetic variation of the Armenian population |
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| Contribution of autosomal rare and de novo variants to sex differences in autism |
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| Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila |
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| Isogenic hiPSC models of Turner syndrome development reveal shared roles of inactive X and Y in the human cranial neural crest network |
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| Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes |
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| reg-eQTL: Integrating transcription factor effects to unveil regulatory variants |
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| This month in The Journal |
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| Population history and admixture of the Fulani people from the Sahel |
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| Misattributed paternity discovery: A critique of medical organizations’ recommendations |
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| Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7 |
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| Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories |
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| Gene and phenome-based analysis of the shared genetic architecture of eye diseases |
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| Prenatal gene editing for neurodevelopmental diseases: Ethical considerations |
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| Sequence variants in HECTD1 result in a variable neurodevelopmental disorder |
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| Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection |
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| Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants |
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| SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns |
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| A unified framework for cell-type-specific eQTL prioritization by integrating bulk and scRNA-seq data |
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| Characterizing substructure via mixture modeling in large-scale genetic summary statistics |
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| Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome |
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| Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy |
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| No evidence for sex-differential transcriptomes driving genome-wide sex-differential natural selection |
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| Functional characterization of eQTLs and asthma risk loci with scATAC-seq across immune cell types and contexts |
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| HiFi long-read genomes for difficult-to-detect, clinically relevant variants |
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| Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study |
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| Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood |
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| DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders |
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| Multivariate proteome-wide association study to identify causal proteins for Alzheimer disease |
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| Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource |
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| Genetic association studies using disease liabilities from deep neural networks |
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| Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data |
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| Multiple origins and phenotypic implications of an extended human pseudoautosomal region shown by analysis of the UK Biobank |
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| Mendelian genetics and eugenics |
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| This month in The Journal |
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| Systematic functional characterization of non-coding regulatory SNPs associated with central obesity |
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| Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum |
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| Characterizing features affecting local ancestry inference performance in admixed populations |
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| EEFSEC deficiency: A selenopathy with early-onset neurodegeneration |
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| When “loss-of-function” means proteostasis burden: Thinking again about coding DNA variants |
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| Response to Bodmer and Charlesworth: Mendelian genetics and eugenics |
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| CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans |
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| Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability |
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| Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders |
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| Pan-cancer analysis reveals age-associated genetic alterations in protein domains |
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| Single-cell transcriptomics reveals inter-ethnic variation in immune response to Falciparum malaria |
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| An evolving understanding of multiple causal variants underlying genetic association signals |
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| Distinct explanations underlie gene-environment interactions in the UK Biobank |
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