| X chromosome inactivation in the human placenta is patchy and distinct from adult tissues |
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| A scalable Bayesian functional GWAS method accounting for multivariate quantitative functional annotations with applications for studying Alzheimer disease |
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| Leveraging omics data to boost the power of genome-wide association studies |
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| The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes |
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| Genetics for all: Tri-directional research engagement as an equitable framework for international partnerships |
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| An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome |
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| Identifying and correcting for misspecifications in GWAS summary statistics and polygenic scores |
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| A Mendelian randomization-based exploration of red blood cell distribution width and mean corpuscular volume with risk of hemorrhagic strokes |
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| Assessing Vietnamese American patient perspectives on population genetic testing in primary care: A community-engaged approach |
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| ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10 |
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| Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability |
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| Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations |
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| Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants |
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| Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 |
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| A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry |
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✓ |
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African ancestry |
| Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas |
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| Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone |
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| Polynomial Mendelian randomization reveals non-linear causal effects for obesity-related traits |
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| An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention |
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| Quality control of large genome datasets |
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| Closing the loop: Editors' feedback on the ASHG readership survey |
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| X chromosome inactivation in the human placenta is patchy and distinct from adult tissues |
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| Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience |
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| Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemia |
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| Accounting for population structure in genetic studies of cystic fibrosis |
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| Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development |
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| The genetic architecture of Alzheimer disease risk in the Ohio and Indiana Amish |
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| Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood |
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| Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease |
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| Improving polygenic prediction with genetically inferred ancestry |
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| Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas |
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| Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study |
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| De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway |
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| Letter to editor: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum |
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| Powerful eQTL mapping through low-coverage RNA sequencing |
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| Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology |
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| From pharmacogenetics to pharmaco-omics: Milestones and future directions |
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| Somatic activating BRAF variants cause isolated lymphatic malformations |
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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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| Maternal effect genes as risk factors for congenital heart defects |
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| Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease |
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| AFA: Ancestry-specific allele frequency estimation in admixed populations: The Hispanic Community Health Study/Study of Latinos |
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| Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders |
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| A year of COVID-19 GWAS results from the GRASP portal reveals potential genetic risk factors |
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| First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B |
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| CRISPR/Cas9-induced gene conversion between ATAD3 paralogs |
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| Stability of polygenic scores across discovery genome-wide association studies |
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| Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients |
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| Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells |
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| Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort |
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| HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination |
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| From karyotypes to precision genomics in 9p deletion and duplication syndromes |
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| Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans |
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✓ |
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Bantu Africans |
| Adaptive eQTLs reveal the evolutionary impacts of pleiotropy and tissue-specificity while contributing to health and disease |
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| Rare coding variants in DNA damage repair genes associated with timing of natural menopause |
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| Ethical, anticipatory genomics research on human behavior means celebrating disagreement |
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| Associations of genetic susceptibility to 16 cancers with risk of breast cancer overall and by intrinsic subtypes |
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| A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk |
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| Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability |
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| Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders |
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| Comparison of somatic mutation landscapes in Chinese versus European breast cancer patients |
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✓ |
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European |
| Population-based genetic effects for developmental stuttering |
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| Human genetic diversity regulating the TLR10/TLR1/TLR6 locus confers increased cytokines in response to Chlamydia trachomatis |
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| A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay |
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| Genetic factors associated with prostate cancer conversion from active surveillance to treatment |
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| Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine mapping in the MHC and genome wide |
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✓ |
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Europeans; South Asians; Transethnic |
| TIGAR-V2: Efficient TWAS tool with nonparametric Bayesian eQTL weights of 49 tissue types from GTEx V8 |
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| Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum |
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| Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation |
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| Maternal effect genes: Update and review of evidence for a link with birth defects |
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| From GWAS variant to function: A study of ∼148,000 variants for blood cell traits |
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| Correction of the hypomorphic Gabra2 splice site variant in mouse strain C57BL/6J modifies the severity of Scn8a encephalopathy |
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| Framing the utility and potential pitfalls of relationship and identity DNA testing across United States immigration contexts |
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| Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns |
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| Ending genetic essentialism through genetics education |
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| Identification of a common polymorphism in COQ8B acting as a modifier of thoracic aortic aneurysm severity |
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| RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing |
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| Identification of 90 NAFLD GWAS loci and establishment of NAFLD PRS and causal role of NAFLD in coronary artery disease |
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| Characteristics and experiences of patients from a community-based and consumer-directed hereditary cancer population screening initiative |
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| Neural network classifiers for images of genetic conditions with cutaneous manifestations |
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