← Stacey Gabriel

Papers by Stacey Gabriel

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51. Addendum: The mutational constraint spectrum quantified from variation in 141,456 humansNature · 2021
52. Outbreak of SARS-CoV-2 Infections, Including COVID-19 Vaccine Breakthrough Infections, Associated with Large Public Gatherings — Barnstable County, Massachusetts, July 2021MMWR Morbidity and Mortality Weekly Report · 2021
53. Cross-Sectional Assessment of SARS-CoV-2 Viral Load by Symptom Status in Massachusetts Congregate Living FacilitiesThe Journal of Infectious Diseases · 2021
54. Combined tumor and immune signals from genomes or transcriptomes predict outcomes of checkpoint inhibition in melanoma2021
55. Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility2021
56. Evaluation of the Access Bio CareStart™ rapid SARS-CoV-2 antigen test in asymptomatic individuals tested at a community mass-testing program in Western Massachusetts2021
57. Estimating epidemiologic dynamics from cross-sectional viral load distributionsScience · 2021
58. Performance and Operational Evaluation of the Access Bio CareStart Rapid Antigen Test in a High-Throughput Drive-Through Community Testing Site in MassachusettsOpen Forum Infectious Diseases · 2021
59. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indicesNature Communications · 2021
60. Performance and Implementation Evaluation of the Abbott BinaxNOW Rapid Antigen Test in a High-Throughput Drive-Through Community Testing Site in MassachusettsJournal of Clinical Microbiology · 2021
61. Using viral load and epidemic dynamics to optimize pooled testing in resource-constrained settingsScience Translational Medicine · 2021
62. Performance and Implementation Evaluation of the Abbott BinaxNOW Rapid Antigen Test in a High-throughput Drive-through Community Testing Site in Massachusetts2021
63. Pooling for SARS-CoV2 Surveillance: Validation and Strategy for Implementation in K-12 Schools2020
64. Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program2020
65. Genotyping common, large structural variations in 5,202 genomes using pangenomes, the Giraffe mapper, and the vg toolkit2020
66. Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal WomenCirculation · 2020
67. Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participantsNature Communications · 2020
68. Cell type–specific genetic regulation of gene expression across human tissuesScience · 2020
69. The impact of sex on gene expression across human tissuesScience · 2020
70. Transcriptomic signatures across human tissues identify functional rare genetic variationScience · 2020
71. Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery DiseaseCirculation Genomic and Precision Medicine · 2020
72. Comparison of viral levels in individuals with or without symptoms at time of COVID-19 testing among 32,480 residents and staff of nursing homes and assisted living facilities in Massachusetts2020
73. A structural variation reference for medical and population geneticsTyöväentutkimus Vuosikirja · 2020
74. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesNature Communications · 2020
75. Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individualsNature Communications · 2020
76. Transcript expression-aware annotation improves rare variant interpretationTyöväentutkimus Vuosikirja · 2020
77. The effect of LRRK2 loss-of-function variants in humansNature Medicine · 2020
78. Using viral load and epidemic dynamics to optimize pooled testing in resource constrained settings2020
79. Infantile Myelofibrosis and Myeloproliferation with CDC42 DysfunctionJournal of Clinical Immunology · 2020
80. A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver diseaseTyöväentutkimus Vuosikirja · 2020
81. Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populationsPLoS Genetics · 2019
82. Genetic Interleukin 6 Signaling Deficiency Attenuates Cardiovascular Risk in Clonal HematopoiesisCirculation · 2019
83. Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery Disease2019
84. The gastrointestinal development ‘parts list’: transcript profiling of embryonic gut development in wildtype and Ret -deficient mice2019
85. Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations2019
86. Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controlsTyöväentutkimus Vuosikirja · 2019
87. A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease2019
88. Characterising the loss-of-function impact of 5’ untranslated region variants in whole genome sequence data from 15,708 individuals2019
89. The mutational constraint spectrum quantified from variation in 141,456 humans2019
90. Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial InfarctionCirculation · 2019
91. Rare genetic variation implicated in non-Hispanic white families with Alzheimer diseaseNeurology Genetics · 2018
92. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic featuresAmerican Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2018
93. DNA Sequence Variation in ACVR1C Encoding the Activin Receptor-Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 DiabetesDiabetes · 2018
94. Loss of Protocadherin‐12Leads to Diencephalic‐Mesencephalic Junction Dysplasia SyndromeAnnals of Neurology · 2018
95. Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulationMolecular Psychiatry · 2018
96. Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries2018
97. The Genetic Landscape of Diamond-Blackfan Anemia2018
98. Integrated Molecular Characterization of Testicular Germ Cell TumorsCell Reports · 2018
99. Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for diseaseNature Communications · 2018
100. The Integrated Genomic Landscape of Thymic Epithelial TumorsCancer Cell · 2018