| Founder population-specific weights yield improvements in performance of polygenic risk scores for Alzheimer disease in the Midwestern Amish |
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| BRCA1 frameshift variants leading to extended incorrect protein C termini |
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| Evaluating genomic polygenic risk scores for childhood acute lymphoblastic leukemia in Latinos |
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| Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome |
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| Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability |
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| Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy |
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| Universal genome-wide association studies: Powerful joint ancestry and association testing |
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| The legacy of language: What we say, and what people hear, when we talk about genomics |
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| Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate |
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| Revealing polygenic pleiotropy using genetic risk scores for asthma |
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| Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome |
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| Genetically predicted waist-to-hip circumference ratio and coronary artery disease: A sex-specific Mendelian randomization study |
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| USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids |
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| Project Inclusive Genetics: Protecting reproductive autonomy from bias via prenatal patient-centered counseling |
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| Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein’s anomaly |
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| Phenotypes of undiagnosed adults with actionable OTC and GLA variants |
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| TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma |
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| Complete loss of TP53 and RB1 is associated with complex genome and low immune infiltrate in pleomorphic rhabdomyosarcoma |
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| Building an optimal predictive model for imputing tissue-specific gene expression by combining genotype and whole-blood transcriptome data |
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| Multivariate adaptive shrinkage improves cross-population transcriptome prediction and association studies in underrepresented populations |
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| Eight fingers and eight toes |
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| Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing |
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| Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects |
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| Bridging the diversity gap: Analytical and study design considerations for improving the accuracy of trans-ancestry genetic prediction |
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| Transcriptome-wide association study identifies novel candidate susceptibility genes for migraine |
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| Challenges in screening for de novo noncoding variants contributing to genetically complex phenotypes |
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| Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations |
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| Exome-wide analysis reveals role of LRP1 and additional novel loci in cognition |
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| Multivariate extension of penalized regression on summary statistics to construct polygenic risk scores for correlated traits |
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| Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis |
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| A Polynesian-specific missense CETP variant alters the lipid profile |
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| Beyond borders: A commentary on the benefit of promoting immigrant populations in genome-wide association studies |
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| The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort |
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| Gene, cell type, and drug prioritization analysis suggest genetic basis for the utility of diuretics in treating Alzheimer disease |
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| Genetic and clinical determinants of telomere length |
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| A complex structural variant near SOX3 causes X-linked split-hand/foot malformation |
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| The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome |
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| De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder |
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| Cloud-based biomedical data storage and analysis for genomic research: Landscape analysis of data governance in emerging NIH-supported platforms |
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| Using GWAS summary data to impute traits for genotyped individuals |
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| Artificial intelligence-driven pan-cancer analysis reveals miRNA signatures for cancer stage prediction |
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| Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome |
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| A pathogenic variant in the uncharacterized RNF212B gene results in severe aneuploidy male infertility and repeated IVF failure |
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| Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa |
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| Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 |
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| Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes |
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| Low and differential polygenic score generalizability among African populations due largely to genetic diversity |
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| The influence of NUDT15 variants on 6-mercaptopurine-induced neutropenia in Vietnamese pediatric acute lymphoblastic leukemia |
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| Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy |
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| Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction |
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| Polygenic risk scores and kidney traits in the Hispanic/Latino population: The Hispanic Community Health Study/Study of Latinos |
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| Guidelines for genetic ancestry inference created through roundtable discussions |
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| Community partnerships are fundamental to ethical ancient DNA research |
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| Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology |
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| Unexplained mismatch repair deficiency: Case closed |
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| Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations |
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| Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases |
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| Genetic regulation of circular RNA expression in human aortic smooth muscle cells and vascular traits |
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| IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders |
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| Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants |
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| Awareness and utilization of genetic testing among Hispanic and Latino adults living in the US: The Hispanic Community Health Study/Study of Latinos |
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| Inverted genomic regions between reference genome builds in humans impact imputation accuracy and decrease the power of association testing |
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| CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity |
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| A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder |
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| High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification |
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| A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles |
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| Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium |
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| Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of autism spectrum disorder |
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| A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay |
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| Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome |
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| Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number |
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| Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing |
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