Works by Bastarache, Lisa
Results: 74
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
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- Publication type:
- Article
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.
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- 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.
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- 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.
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- 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
The Gain-of-Function Integrin β Pro33 Variant Alters the Serotonin System in the Mouse Brain.
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- Journal of Neuroscience, 2017, v. 37, n. 46, p. 11271, doi. 10.1523/JNEUROSCI.1482-17.2017
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- Article
Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders.
- Published in:
- 2018
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- Publication type:
- journal article
Relationship between very low low-density lipoprotein cholesterol concentrations not due to statin therapy and risk of type 2 diabetes: A US-based cross-sectional observational study using electronic health records.
- Published in:
- 2018
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- Publication type:
- journal 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
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
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- Publication type:
- Article
Reply to Ward and Colleagues' Comment on "Using Human Experiments of Nature to Predict Drug Safety Issues: An Example with PCSK9 Inhibitors".
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- 2018
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- Publication type:
- Letter
Using Human 'Experiments of Nature' to Predict Drug Safety Issues: An Example with PCSK9 Inhibitors.
- Published in:
- 2018
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- Publication type:
- journal article
Relationships Between Hearing-Related and Health-Related Variables in Academic Progress of Children With Unilateral Hearing Loss.
- Published in:
- Journal of Speech, Language & Hearing Research, 2025, v. 68, n. 1, p. 364, doi. 10.1044/2024_JSLHR-24-00133
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- Publication type:
- Article
The Use of Electronic Health Records for Behavioral Phenotyping of School-Age Children With Unilateral Hearing Loss: A Methodological Approach.
- Published in:
- Journal of Speech, Language & Hearing Research, 2024, v. 67, n. 1, p. 254, doi. 10.1044/2023_JSLHR-22-00610
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- Publication type:
- Article
Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics.
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- Assay & Drug Development Technologies, 2017, v. 15, n. 3, p. 113, doi. 10.1089/adt.2016.772
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- Publication type:
- Article
Influence of Human Leukocyte Antigen ( HLA) Alleles and Killer Cell Immunoglobulin-Like Receptors ( KIR) Types on Heparin-Induced Thrombocytopenia ( HIT).
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- Pharmacotherapy, 2017, v. 37, n. 9, p. 1164, doi. 10.1002/phar.1983
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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.
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- Bioinformatics, 2022, v. 38, n. 8, p. 2297, doi. 10.1093/bioinformatics/btac086
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- Article
Genetic variants associated with sepsis-associated acute kidney injury.
- Published in:
- PLoS ONE, 2024, v. 19, n. 12, p. 1, doi. 10.1371/journal.pone.0311318
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- Publication type:
- Article
Frequency of benign neutropenia among Black versus White individuals undergoing a bone marrow assessment.
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- Journal of Cellular & Molecular Medicine, 2022, v. 26, n. 13, p. 3628, doi. 10.1111/jcmm.17346
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- Article
Natural Language Processing Improves Identification of Colorectal Cancer Testing in the Electronic Medical Record.
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- 2012
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- Publication type:
- Journal Article
Identifying genetically driven clinical phenotypes using linear mixed models.
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- Nature Communications, 2016, v. 7, n. 4, p. 11433, doi. 10.1038/ncomms11433
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- Publication type:
- Article
Joint mouse-human phenome-wide association to test gene function and disease risk.
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- Nature Communications, 2016, v. 7, n. 2, p. 10464, doi. 10.1038/ncomms10464
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- Publication type:
- Article
Penetrance of Deleterious Clinical Variants.
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- 2022
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- Publication type:
- Letter to the Editor
Phenome-Wide Association Studies.
- Published in:
- JAMA: Journal of the American Medical Association, 2022, v. 327, n. 1, p. 75, doi. 10.1001/jama.2021.20356
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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.
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- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122271
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- Publication type:
- Article
New Insights into Clinical and Mechanistic Heterogeneity of the Acute Respiratory Distress Syndrome Summary of the Aspen Lung Conference 2021.
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- 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
Aggregating Electronic Health Record Data for COVID-19 Research—Caveat Emptor.
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- 2021
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- Publication type:
- Opinion
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
A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05624-4
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- Publication type:
- Article
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
Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants.
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- Science Translational Medicine, 2017, v. 9, n. 389, p. 1, doi. 10.1126/scitranslmed.aai8708
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- Publication type:
- Article
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.
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- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-020-02252-4
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- Publication type:
- Article
Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record.
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- PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0175508
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- Publication type:
- Article
Defining the complex phenotype of severe systemic loxoscelism using a large electronic health record cohort.
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- PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0174941
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- Article
Comparison of HLA allelic imputation programs.
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- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172444
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- Publication type:
- Article
Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization.
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- 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
Cox regression increases power to detect genotype-phenotype associations in genomic studies using the electronic health record.
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- BMC Genomics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12864-019-6192-1
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- Publication type:
- Article
Prostaglandin I2 signaling licenses Treg suppressive function and prevents pathogenic reprogramming.
- Published in:
- 2021
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- Publication type:
- journal article
Transcription factor ETV1 is essential for rapid conduction in the heart.
- Published in:
- 2016
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- Publication type:
- journal 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
Pulling the covers in electronic health records for an association study with self-reported sleep behaviors.
- Published in:
- Chronobiology International: The Journal of Biological & Medical Rhythm Research, 2018, v. 35, n. 12, p. 1702, doi. 10.1080/07420528.2018.1508152
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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
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- 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
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- Publication type:
- Article
Quantifying the phenome‐wide disease burden of obesity using electronic health records and genomics.
- Published in:
- Obesity (19307381), 2022, v. 30, n. 12, p. 2477, doi. 10.1002/oby.23561
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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
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
Laboratory Predictors of Hemolytic Anemia in Patients With Systemic Loxoscelism.
- Published in:
- 2022
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- Publication type:
- journal article
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
R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment.
- Published in:
- Bioinformatics, 2014, v. 30, n. 16, p. 2375, doi. 10.1093/bioinformatics/btu197
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- Publication type:
- Article