| Polyamine Metabolism is Dysregulated in COXFA4 Related Mitochondrial Disease |
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| Evaluation of imputation performance of multiple reference panels in a Pakistani population |
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| A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures |
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| An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome |
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| Large-scale brainstem neuroimaging and genetic analyses provide new insights into the neuronal mechanisms of hypertension |
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| Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali |
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| Genome-wide association study reveals shared and distinct genetic architecture of fatty acids and oxylipins in the Hispanic Community Health Study/Study of Latinos |
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| Phenotypic findings associated with variation in elastin |
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| Polygenic scores and social determinants of health: Their correlations and potential biases |
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| MGA-related syndrome: A proposed novel disorder |
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| A multi-ancestry genome-wide association study identifies novel candidate loci in the RARB gene associated with hypertensive disorders of pregnancy |
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| An ADPRS variant disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure |
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| Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomalies |
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| Proteome-wide association studies for blood lipids and comparison with transcriptome-wide association studies |
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| Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome |
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| CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature |
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| Chronic overlapping pain conditions and nociplastic pain |
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| Epileptic encephalopathy linked to a DALRD3 missense variant that impairs tRNA modification |
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| RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome |
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| Functional genomics implicates natural killer cells in the pathogenesis of ankylosing spondylitis |
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| Advancements in genetic research by the Hispanic Community Health Study/Study of Latinos: A 10-year retrospective review |
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| HCV- and HBV-mediated liver cancer converge on similar transcriptomic landscapes and immune profiles |
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| Variants in the β-globin locus are associated with pneumonia in African American children |
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| LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy |
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| A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery |
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| Togaram1 is expressed in the neural tube and its absence causes neural tube closure defects |
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| Functional characterization of QT interval associated SCN5A enhancer variants identify combined additive effects |
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| Exonic splice variant discovery using in vitro models of inherited retinal disease |
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| Comparison of methods for building polygenic scores for diverse populations |
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| A phenome-wide association study of polygenic scores for selected childhood cancer: Results from the UK Biobank |
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| Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation |
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| Transcriptome-wide analyses delineate the genetic architecture of expression variation in atopic dermatitis |
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| A proposed role for CDO1 in central nervous system development: Three children with rare missense variants and a neurological phenotype |
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| Families’ experiences of receiving adult- and pediatric-onset genetic results |
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| Cardiovascular Disease-Associated Non-Coding Variants Disrupt GATA4-DNA Binding and Regulatory Functions |
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| Multifaceted analysis of noncoding and coding de novo variants implicates NOTCH signaling pathway in tetralogy of Fallot in Chinese population |
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✓ |
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Chinese population |
| Unraveling the genetic landscape of susceptibility to multiple primary cancers |
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| Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effects |
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| Unbiased causal inference with Mendelian randomization and covariate-adjusted GWAS data |
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| Context-specific eQTLs provide deeper insight into causal genes underlying shared genetic architecture of COVID-19 and idiopathic pulmonary fibrosis |
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| De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies |
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| Caution when using network partners for target identification in drug discovery |
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| Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay |
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| Response to Karp-Tatham et al. |
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| Pitfalls in performing genome-wide association studies on ratio traits |
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| Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6 |
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| Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features |
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| Revisiting Variation in the Somatic Mutation Landscape of Non-Small Cell Lung Cancer |
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| Male proband with intractable seizures and a de novo start codon disrupting variant in GLUL |
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| Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett’s esophagus and esophageal adenocarcinoma |
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| Mapping dynamic regulation of gene expression using single-cell transcriptomics and application to complex disease genetics |
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| Genome-wide maps of highly-similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assemblies |
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