| Letter to the Editor: Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection |
|
|
|
|
|
|
|
|
|
| Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles |
|
|
|
|
|
|
|
|
|
| Non-coding cause of congenital heart defects: Abnormal RNA splicing with multiple isoforms as a mechanism for heterotaxy |
|
|
|
|
|
|
|
|
|
| Joint genotype and ancestry analysis identify novel loci associated with atopic dermatitis in African American population |
|
|
|
|
|
|
✓ |
|
African American |
| Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus |
|
|
|
|
|
|
|
|
|
| Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools |
|
|
|
|
|
|
|
|
|
| LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder |
|
|
|
|
|
|
|
|
|
| Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function |
|
|
|
|
|
|
|
|
|
| Extensive co-regulation of neighboring genes complicates the use of eQTLs in target gene prioritization |
|
|
|
|
|
|
|
|
|
| Enhancing personalized gene expression prediction from DNA sequences using genomic foundation models |
|
|
|
|
|
|
|
|
|
| Facilitating return of actionable genetic research results from a biobank repository: Participant uptake and utilization of digital interventions |
|
|
|
|
|
|
|
|
|
| Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients |
|
|
|
|
|
|
|
|
|
| Mid-pass whole-genome sequencing in a Malagasy cohort uncovers body composition associations |
|
|
|
|
|
|
|
|
|
| The performance of AlphaMissense to identify genes influencing disease |
|
|
|
|
|
|
|
|
|
| Estimating prevalence of rare genetic disease diagnoses using electronic health records in a children’s hospital |
|
|
|
|
|
|
|
|
|
| Copy-number variants differ in frequency across genetic ancestry groups |
|
|
|
|
|
|
|
|
|
| A novel framework with automated horizontal pleiotropy adjustment in mendelian randomization |
|
|
|
|
|
|
|
|
|
| Multivariable Mendelian randomization with incomplete measurements on the exposure variables in the Hispanic Community Health Study/Study of Latinos |
|
|
|
|
|
|
|
|
|
| Discovery of new myositis genetic associations through leveraging other immune-mediated diseases |
|
|
|
|
|
|
|
|
|
| The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotype |
|
|
|
|
|
|
|
|
|
| WES-based screening of 7,000 newborns: A pilot study in Russia |
|
|
|
|
|
|
|
|
|
| Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior |
|
|
|
|
|
|
|
|
|
| Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome |
|
|
|
|
|
|
|
|
|
| INDELpred: Improving the prediction and interpretation of indel pathogenicity within the clinical genome |
|
|
|
|
|
|
|
|
|
| Quantitative trait locus mapping in placenta: A comparative study of chorionic villus and birth placenta |
|
|
|
|
|
|
|
|
|
| A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants |
|
|
|
|
|
|
|
|
|
| DeepFace: Deep-learning-based framework to contextualize orofacial-cleft-related variants during human embryonic craniofacial development |
|
|
|
|
|
|
|
|
|
| Stratified analyses refine association between TLR7 rare variants and severe COVID-19 |
|
|
|
|
|
|
|
|
|
| Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population |
|
|
|
|
|
|
|
|
|
| Additional impact of genetic ancestry over race/ethnicity to prevalence of KRAS mutations and allele-specific subtypes in non-small cell lung cancer |
|
|
|
|
|
|
|
|
|
| Identifying dysregulated regions in amyotrophic lateral sclerosis through chromatin accessibility outliers |
|
|
|
|
|
|
|
|
|
| Trait selection strategy in multi-trait GWAS: Boosting SNP discoverability |
|
|
|
|
|
|
|
|
|
| Genetic analyses of inflammatory polyneuropathy and chronic inflammatory demyelinating polyradiculoneuropathy identified candidate genes |
|
|
|
|
|
|
|
|
|
| Transcriptome-wide association analysis identifies candidate susceptibility genes for prostate-specific antigen levels in men without prostate cancer |
|
|
|
|
|
|
|
|
|
| Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders |
|
|
|
|
|
|
|
|
|
| Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients |
|
|
|
|
|
|
|
|
|
| Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts |
|
|
|
|
|
|
|
|
|
| DeepFace: Deep-learning-based framework to contextualize orofacial-cleft-related variants during human embryonic craniofacial development |
|
|
|
|
|
|
|
|
|
| Critical reasoning on the co-expression module QTL in the dorsolateral prefrontal cortex |
|
|
|
|
|
|
|
|
|
| Whole-genome sequences reveal zygotic composition in chimeric twins |
|
|
|
|
|
|
|
|
|
| Disease-specific prioritization of non-coding GWAS variants based on chromatin accessibility |
|
|
|
|
|
|
|
|
|
| DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity |
|
|
|
|
|
|
|
|
|
| Response to Harding and Martinez |
|
|
|
|
|
|
|
|
|
| Letter to the editor |
|
|
|
|
|
|
|
|
|
| Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies |
|
|
|
|
|
|
|
|
|
| Distinct positions of genetic and oral histories: Perspectives from India |
|
|
|
|
|
|
|
|
|
| A parametric bootstrap approach for computing confidence intervals for genetic correlations with application to genetically determined protein-protein networks |
|
|
|
|
|
|
|
|
|
| Generalizability of PGS313 for breast cancer risk in a Los Angeles biobank |
|
|
|
|
|
|
|
|
|
| A functional schizophrenia-associated genetic variant near the TSNARE1 and ADGRB1 genes |
|
|
|
|
|
|
|
|
|
| Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection |
|
|
|
|
|
|
|
|
|
| A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods |
|
|
|
|
|
|
|
|
|
| BRCA1 frameshift variants leading to extended incorrect protein C termini |
|
|
|
|
|
|
|
|
|
| In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk |
|
|
|
|
|
|
|
|
|
| Queering genomics: How cisnormativity undermines genomic science |
|
|
|
|
|
|
|
|
|
| MRBEE: A bias-corrected multivariable Mendelian randomization method |
|
|
|
|
|
|
|
|
|
| DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants |
|
|
|
|
|
|
|
|
|
| The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt |
|
|
|
|
|
|
|
|
|
| Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles |
|
|
|
|
|
|
|
|
|
| Landscape of genomic structural variations in Indian population-based cohorts: Deeper insights into their prevalence and clinical relevance |
|
|
|
|
|
|
|
|
|
| Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease |
|
|
|
|
|
|
|
|
|
| A power-based sliding window approach to evaluate the clinical impact of rare genetic variants in the nucleotide sequence or the spatial position of the folded protein |
|
|
|
|
|
|
|
|
|
| Subset-based method for cross-tissue transcriptome-wide association studies improves power and interpretability |
|
|
|
|
|
|
|
|
|
| Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications |
|
|
|
|
|
|
|
|
|
| Return of polygenic risk scores in research: Stakeholders’ views on the eMERGE-IV study |
|
|
|
|
|
|
|
|
|
| Massively parallel reporter assay confirms regulatory potential of hQTLs and reveals important variants in lupus and other autoimmune diseases |
|
|
|
|
|
|
|
|
|
| Evaluating and improving health equity and fairness of polygenic scores |
|
|
|
|
|
|
|
|
|
| Shared genomic segments analysis identifies MHC class I and class III molecules as genetic risk factors for juvenile idiopathic arthritis |
|
|
|
|
|
|
|
|
|
| Single-cell analysis identified POSTN+ cells associated with the aggressive phenotype and risk of esophageal squamous cell carcinoma |
|
|
|
|
|
|
|
|
|
| Improved estimation of functional enrichment in SNP heritability using feasible generalized least squares |
|
|
|
|
|
|
|
|
|
| Placental expression quantitative trait loci in an East Asian population |
|
|
|
|
|
|
✓ |
|
East Asian population |
| Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications |
|
|
|
|
|
|
|
|
|
| Liver regulatory mechanisms of noncoding variants at lipid and metabolic trait loci |
|
|
|
|
|
|
|
|
|
| Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features |
|
|
|
|
|
|
|
|
|
| Biallelic non-productive enhancer-promoter interactions precede imprinted expression of Kcnk9 during mouse neural commitment |
|
|
|
|
|
|
|
|
|
| Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay |
|
|
|
|
|
|
|
|
|
| PABPN1 loss-of-function causes APA-shift in oculopharyngeal muscular dystrophy |
|
|
|
|
|
|
|
|
|
| Quantifying negative selection on synonymous variants |
|
|
|
|
|
|
|
|
|
| Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators? |
|
|
|
|
|
|
|
|
|
| Evaluating polygenic risk scores for predicting cardiometabolic traits and disease risks in the Taiwan Biobank |
|
|
|
|
|
|
|
|
|
| Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism |
|
|
|
|
|
|
|
|
|
| Rare loss-of-function variants in matrisome genes are enriched in Ebstein’s anomaly |
|
|
|
|
|
|
|
|
|
| CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction |
|
|
|
|
|
|
|
|
|
| Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192 |
|
|
|
|
|
|
|
|
|
| The ethics of using COVID-19 host genomic information for clinical and public health decision-making: A survey of US health professionals |
|
|
|
|
|
|
|
|
|
| Genetic analyses identify evidence for a causal relationship between Ewing sarcoma and hernias |
|
|
|
|
|
|
|
|
|
| A base editing strategy using mRNA-LNPs for in vivo correction of the most frequent phenylketonuria variant |
|
|
|
|
|
|
|
|
|
| Mendelian randomization with incomplete measurements on the exposure in the Hispanic Community Health Study/Study of Latinos |
|
|
|
|
|
|
|
|
|
| A cross-ancestry genome-wide meta-analysis, fine-mapping, and gene prioritization approach to characterize the genetic architecture of adiponectin |
|
|
|
|
|
|
|
|
|
| Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility |
|
|
|
|
|
|
|
|
|
| Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants |
|
|
|
|
|
|
|
|
|
| Conflating race and ancestry: Tracing decision points about population descriptors over the precision medicine research life course |
|
|
|
|
|
|
|
|
|