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| 37868038 | The functional impact of rare variation across the regulatory cascade. | Cell Genom | 2023 |
| 36778386 | Structural variation across 138,134 samples in the TOPMed consortium. | Res Sq | 2023 |
| 36747810 | Structural variation across 138,134 samples in the TOPMed consortium. | bioRxiv | 2023 |
| 37253099 | Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease. | Brain | 2023 |
| 36539618 | Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. | Nat Genet | 2023 |
| 36596565 | Sentinel Surveillance System Implementation and Evaluation for SARS-CoV-2 Genomic Data, Washington, USA, 2020-2021. | Emerg Infect Dis | 2023 |
| 37868038 | The functional impact of rare variation across the regulatory cascade. | Cell Genom | 2023 |
| 37253099 | Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease. | Brain | 2023 |
| 36747810 | Structural variation across 138,134 samples in the TOPMed consortium. | bioRxiv | 2023 |
| 36778386 | Structural variation across 138,134 samples in the TOPMed consortium. | Res Sq | 2023 |
| 36539618 | Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries. | Nat Genet | 2023 |
| 34135477 | ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. | Eur J Hum Genet | 2022 |
| 35385699 | Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program. | Am J Hum Genet | 2022 |
| 35698786 | Functional divergence of the two Elongator subcomplexes during neurodevelopment. | EMBO Mol Med | 2022 |
| 36220816 | Whole genome sequence analysis of blood lipid levels in >66,000 individuals. | Nat Commun | 2022 |
| 36082698 | SARS-CoV-2 Screening Testing in Schools: A Comparison of School- Vs. Home-Based Collection Methods. | J Pediatric Infect Dis Soc | 2022 |
| 35627139 | <i>SCN1A</i> Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families. | Genes (Basel) | 2022 |
| 35430327 | Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations. | Eur J Med Genet | 2022 |
| 36068236 | Genomic surveillance of SARS-CoV-2 Omicron variants on a university campus. | Nat Commun | 2022 |
| 35412591 | Associations Between Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Variants and Risk of Coronavirus Disease 2019 (COVID-19) Hospitalization Among Confirmed Cases in Washington State: A Retrospective Cohort Study. | Clin Infect Dis | 2022 |
| 35790351 | Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. | J Med Genet | 2022 |
| 36192399 | Author Correction: Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology. | Nat Commun | 2022 |
| 35716666 | Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits. | Am J Hum Genet | 2022 |
| 35716026 | Exome sequencing identifies genetic variants in anophthalmia and microphthalmia. | Am J Med Genet A | 2022 |
| 36481753 | Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program. | Nat Commun | 2022 |
| 34135477 | ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. | Eur J Hum Genet | 2022 |
| 35274497 | Exome sequencing identifies variants in infants with sacral agenesis. | Birth Defects Res | 2022 |
| 35191852 | Diagnostic Accuracy of an At-Home, Rapid Self-test for Influenza: Prospective Comparative Accuracy Study. | JMIR Public Health Surveill | 2022 |
| 34553764 | Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative. | Hum Mol Genet | 2022 |
| 35134542 | CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project. | J Mol Diagn | 2022 |
| 34703007 | Integration of DNA sequencing with population pharmacokinetics to improve the prediction of irinotecan exposure in cancer patients. | Br J Cancer | 2022 |
| 34937879 | The Seattle Flu Study: when regulations hinder pandemic surveillance. | Nat Med | 2022 |
| 35347136 | Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology. | Nat Commun | 2022 |
| 35287710 | Correction to: Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares. | Pediatr Rheumatol Online J | 2022 |
| 35346344 | Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program. | Genome Med | 2022 |
| 35412591 | Associations Between Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Variants and Risk of Coronavirus Disease 2019 (COVID-19) Hospitalization Among Confirmed Cases in Washington State: A Retrospective Cohort Study. | Clin Infect Dis | 2022 |
| 35347136 | Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology. | Nat Commun | 2022 |
| 35346344 | Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program. | Genome Med | 2022 |
| 35698786 | Functional divergence of the two Elongator subcomplexes during neurodevelopment. | EMBO Mol Med | 2022 |
| 35430327 | Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations. | Eur J Med Genet | 2022 |
| 35790351 | Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. | J Med Genet | 2022 |
| 35627139 | <i>SCN1A</i> Variants as the Underlying Cause of Genetic Epilepsy with Febrile Seizures Plus in Two Multi-Generational Colombian Families. | Genes (Basel) | 2022 |
| 35716666 | Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits. | Am J Hum Genet | 2022 |
| 35716026 | Exome sequencing identifies genetic variants in anophthalmia and microphthalmia. | Am J Med Genet A | 2022 |
| 35385699 | Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program. | Am J Hum Genet | 2022 |
| 36481753 | Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program. | Nat Commun | 2022 |
| 36068236 | Genomic surveillance of SARS-CoV-2 Omicron variants on a university campus. | Nat Commun | 2022 |
| 36192399 | Author Correction: Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology. | Nat Commun | 2022 |
| 36220816 | Whole genome sequence analysis of blood lipid levels in >66,000 individuals. | Nat Commun | 2022 |