Publications
11.29.2021 |
Gene‑level analysis of rare variants in 379,066 whole exome sequences identifes an association of GIGYF1 loss of function with type 2 diabetes
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07.27.2021 |
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms
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07.20.2021 |
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
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06.02.2021 |
Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry
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04.27.2021 |
Rare coding variants in five DNA damage repair genes associate with timing of natural menopause
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02.01.2021 |
Gene-level analysis of rare variants in 363,977 whole exome sequences reveals an association of GIGYF1 loss of function with diabetes
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01.06.2021 |
Rapid Single Cell Evaluation of Human Disease and Disorder Targets Using REVEAL SingleCell™
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10.29.2020 |
Phenome-wide association study of predicted loss of function variants and 34 biomarkers in 255,873 UK Biobank whole exome sequences
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10.29.2020 |
Gene-level analysis of loss of function variants in 246,731 whole exome sequences reveals a novel association with diabetes
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10.29.2020 |
Association of missense variants in the transthyretin gene with hereditary transthyretin mediated amyloidosis in 302,330 UK Biobank whole exome sequences
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10.29.2020 |
Speeding Up and Reducing Costs for Genomic Analysis with an Automated Distributed Task Service: a Comparison of REVEAL™: Biobank with Databricks’ Hail and Glow
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05.19.2020 |
Genome-wide association study of circulating liver enzymes reveals an expanded role for manganese transporter SLC30A10 in liver health
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09.21.2019 |
Transthyretin-stabilizing mutation T119M is not associated with protection against vascular disease or death in the UK Biobank
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08.01.2019 |
The V122I Mutation in Hereditary Transthyretin-Mediated Amyloidosis is Significantly Associated with Polyneuropathy
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06.09.2019 |
Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology
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06.01.2018 |
Second Largest Eigenvalue of the Transition Probability Matrix for the Markov Chain Constructed from the Arterial Blood Pressure Waveform is Not Correlated to Shock Index in Hemorrhagic Human Subjects
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04.24.2018 |
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study
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04.14.2018 |
Bayesian model comparison for rare variant association studies of multiple phenotypes
» FULL ARTICLE
03.02.2017 |
Closing the Data Loop: An Integrated Open Access Analysis Platform for the MIMIC Database
» FULL ARTICLE
01.01.2016 |
Predicting Significance of Unknown Variants in Glial Tumors Through Sub-Class Enrichment
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07.20.2015 |
Analysis of Metabolomics Datasets with High-Performance Computing and Metabolite Atlases
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