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Voriconazole metabolism is associated with the number of skin cancers per patient.
- Published in:
- Archives of Dermatological Research, 2024, v. 316, n. 6, p. 1, doi. 10.1007/s00403-024-03135-5
- By:
- Publication type:
- Article
Developing real‐world evidence from real‐world data: Transforming raw data into analytical datasets.
- Published in:
- Learning Health Systems, 2022, v. 6, n. 1, p. 1, doi. 10.1002/lrh2.10293
- By:
- Publication type:
- Article
Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients.
- Published in:
- 2021
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- Publication type:
- journal article
Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization.
- Published in:
- World Journal of Surgery, 2020, v. 44, n. 1, p. 84, doi. 10.1007/s00268-019-05202-9
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- Publication type:
- Article
Machine‐learning based classification of Frontotemporal dementia in electronic health records for genetic discovery.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.080074
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- Publication type:
- Article
Machine‐learning based classification of Frontotemporal dementia in electronic health records for genetic discovery.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.080074
- By:
- Publication type:
- Article
Limited clinical utility for GWAS or polygenic risk score for postoperative acute kidney injury in non-cardiac surgery in European-ancestry patients.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Cox regression increases power to detect genotype-phenotype associations in genomic studies using the electronic health record.
- Published in:
- BMC Genomics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12864-019-6192-1
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- Publication type:
- Article
Linking rare and common disease vocabularies by mapping between the human phenotype ontology and phecodes.
- Published in:
- JAMIA Open, 2023, v. 6, n. 1, p. 1, doi. 10.1093/jamiaopen/ooad007
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- Publication type:
- Article
Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection.
- Published in:
- PLoS ONE, 2023, v. 18, n. 8, p. 1, doi. 10.1371/journal.pone.0286469
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- Publication type:
- Article
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63597
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- Publication type:
- Article
Data from electronic healthcare records expand our understanding of X‐linked genetic diseases.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63527
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- Publication type:
- Article
The contribution of mosaicism to genetic diseases and de novo pathogenic variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2482, doi. 10.1002/ajmg.a.63309
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- Publication type:
- Article
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.
- Published in:
- Nature Biotechnology, 2013, v. 31, n. 12, p. 1102, doi. 10.1038/nbt.2749
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- Publication type:
- Article
phers R package: using phenotype risk scores based on electronic health records to study Mendelian disease and rare genetic variants.
- Published in:
- Bioinformatics, 2022, v. 38, n. 21, p. 4972, doi. 10.1093/bioinformatics/btac619
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- Publication type:
- Article
Cox regression is robust to inaccurate EHR-extracted event time: an application to EHR-based GWAS.
- Published in:
- Bioinformatics, 2022, v. 38, n. 8, p. 2297, doi. 10.1093/bioinformatics/btac086
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- Publication type:
- Article
Clinical associations with a polygenic predisposition to benign lower white blood cell counts.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-47804-5
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- Publication type:
- Article
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.
- Published in:
- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-020-02252-4
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- Publication type:
- Article
TYK2 Protein-Coding Variants Protect against Rheumatoid Arthritis and Autoimmunity, with No Evidence of Major Pleiotropic Effects on Non-Autoimmune Complex Traits.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122271
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- Publication type:
- Article
Integrating EMR-Linked and <i>In Vivo</i> Functional Genetic Data to Identify New Genotype-Phenotype Associations.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100322
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- Publication type:
- Article
Mechanistic Phenotypes: An Aggregative Phenotyping Strategy to Identify Disease Mechanisms Using GWAS Data.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0081503
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- Publication type:
- Article
A Phenome-Wide Association Study Identifies a Novel Asthma Risk Locus Near TERC.
- Published in:
- 2016
- By:
- Publication type:
- Letter
LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 11, p. 1, doi. 10.1371/journal.pgen.1009077
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- Publication type:
- Article
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
- Published in:
- Human Genetics, 2014, v. 133, n. 1, p. 95, doi. 10.1007/s00439-013-1355-7
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- Publication type:
- Article
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0078-7
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- Publication type:
- Article
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0078-7
- By:
- Publication type:
- Article
11 Novel Systematic Method for Identifying Congenital Anomaly Cases in Electronic Health Record Databases.
- Published in:
- 2024
- By:
- Publication type:
- Abstract
Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index.
- Published in:
- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00250
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- Publication type:
- Article
Laboratory Predictors of Hemolytic Anemia in Patients With Systemic Loxoscelism.
- Published in:
- 2022
- By:
- Publication type:
- journal article
New Insights into Clinical and Mechanistic Heterogeneity of the Acute Respiratory Distress Syndrome Summary of the Aspen Lung Conference 2021.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2022, v. 67, n. 3, p. 284, doi. 10.1165/rcmb.2022-0089WS
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- Publication type:
- Article
Comparison of phenomic profiles in the All of Us Research Program against the US general population and the UK Biobank.
- Published in:
- Journal of the American Medical Informatics Association, 2024, v. 31, n. 4, p. 846, doi. 10.1093/jamia/ocad260
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- Publication type:
- Article
Systematic replication of smoking disease associations using survey responses and EHR data in the All of Us Research Program.
- Published in:
- Journal of the American Medical Informatics Association, 2024, v. 31, n. 1, p. 139, doi. 10.1093/jamia/ocad205
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- Publication type:
- Article
Knowledgebase strategies to aid interpretation of clinical correlation research.
- Published in:
- Journal of the American Medical Informatics Association, 2023, v. 30, n. 7, p. 1257, doi. 10.1093/jamia/ocad078
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- Publication type:
- Article
A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Use of electronic health records to support a public health response to the COVID-19 pandemic in the United States: a perspective from 15 academic medical centers.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Evaluating electronic health record data sources and algorithmic approaches to identify hypertensive individuals.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Development and evaluation of an ensemble resource linking medications to their indications.
- Published in:
- Journal of the American Medical Informatics Association, 2013, v. 20, n. 5, p. 954, doi. 10.1136/amiajnl-2012-001431
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- Publication type:
- Article
Integrating existing natural language processing tools for medication extraction from discharge summaries.
- Published in:
- Journal of the American Medical Informatics Association, 2010, v. 17, n. 5, p. 528, doi. 10.1136/jamia.2010.003855
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- Publication type:
- Article
Extracting timing and status descriptors for colonoscopy testing from electronic medical records.
- Published in:
- Journal of the American Medical Informatics Association, 2010, v. 17, n. 4, p. 383, doi. 10.1136/jamia.2010.004804
- By:
- Publication type:
- Article
Natural Language Processing Improves Identification of Colorectal Cancer Testing in the Electronic Medical Record.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
Frequency of benign neutropenia among Black versus White individuals undergoing a bone marrow assessment.
- Published in:
- Journal of Cellular & Molecular Medicine, 2022, v. 26, n. 13, p. 3628, doi. 10.1111/jcmm.17346
- By:
- Publication type:
- Article
Prostaglandin I2 signaling licenses Treg suppressive function and prevents pathogenic reprogramming.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Transcription factor ETV1 is essential for rapid conduction in the heart.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Identifying genetically driven clinical phenotypes using linear mixed models.
- Published in:
- Nature Communications, 2016, v. 7, n. 4, p. 11433, doi. 10.1038/ncomms11433
- By:
- Publication type:
- Article
Joint mouse-human phenome-wide association to test gene function and disease risk.
- Published in:
- Nature Communications, 2016, v. 7, n. 2, p. 10464, doi. 10.1038/ncomms10464
- By:
- Publication type:
- Article
Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants.
- Published in:
- Science Translational Medicine, 2017, v. 9, n. 389, p. 1, doi. 10.1126/scitranslmed.aai8708
- By:
- Publication type:
- Article
Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics.
- Published in:
- Assay & Drug Development Technologies, 2017, v. 15, n. 3, p. 113, doi. 10.1089/adt.2016.772
- By:
- Publication type:
- Article
IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.686
- By:
- Publication type:
- Article
Penetrance of Deleterious Clinical Variants.
- Published in:
- 2022
- By:
- Publication type:
- Letter to the Editor