Lista de obras -

A Phenome-Wide Association Study Identifies a Novel Asthma Risk Locus Near TERC.

artículo científico publicado en 2016

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects

artículo científico publicado en 2013

A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough

artículo científico publicado en 2015

A natural language processing algorithm to define a venous thromboembolism phenotype

artículo científico publicado en 2013

A phenome-wide association study to discover pleiotropic effects of , , and

A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers

artículo científico publicado en 2018

Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics

artículo científico publicado en 2017

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

artículo científico publicado en 2018

Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization

artículo científico publicado en 2020

Association of ST2 polymorphisms with atopy, asthma, and leukemia

artículo científico publicado en 2018

Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis

scientific article published on 01 February 2019

Association of estrogen receptor α polymorphism rs1999805 with asthma

artículo científico publicado en 2018

Calcium Channel Blockers as Drug Repurposing Candidates for Gestational Diabetes: Mining large scale genomic and electronic health records data to repurpose medications

artículo científico publicado en 2018

Cardiovascular toxicities associated with immune checkpoint inhibitors: an observational, retrospective, pharmacovigilance study

artículo científico publicado en 2018

Case 40-2018: A Woman with Recurrent Sinusitis, Cough, and Bronchiectasis

artículo científico publicado en 2019

Comparison of HLA allelic imputation programs.

artículo científico publicado en 2017

Cox regression increases power to detect genotype-phenotype associations in genomic studies using the electronic health record

scientific article published on 04 November 2019

Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data

artículo científico publicado en 2016

Defining the complex phenotype of severe systemic loxoscelism using a large electronic health record cohort

artículo científico publicado en 2017

Development and evaluation of an ensemble resource linking medications to their indications

artículo científico publicado en 2013

Development of a natural language processing system to identify timing and status of colonoscopy testing in electronic medical records

artículo científico publicado en 2009

Development of an ensemble resource linking MEDications to their Indications (MEDI).

artículo científico

EHRs could clarify drug safety in pregnant people

scientific article published on 26 May 2020

Effects of G6pc2 deletion on body weight and cholesterol in mice

artículo científico publicado en 2017

Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis

scientific article published on 16 April 2020

Evaluating electronic health record data sources and algorithmic approaches to identify hypertensive individuals.

artículo científico publicado en 2016

Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record

artículo científico publicado en 2017

Exploring the role of low-frequency and rare exonic variants in alcohol and tobacco use

artículo científico publicado en 2018

Extracting timing and status descriptors for colonoscopy testing from electronic medical records.

artículo científico publicado en 2010

GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish

article

Genetics of glucocorticoid-associated osteonecrosis in children with acute lymphoblastic leukemia

artículo científico publicado en 2015

Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk

scientific article published on 05 March 2013

Glucagon-like peptide-1 receptor signaling attenuates RSV-induced type 2 responses and immunopathology

artículo científico publicado en 2018

Identifying genetically driven clinical phenotypes using linear mixed models

artículo científico publicado en 2016

IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.

artículo científico publicado en 2019

Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease

artículo científico publicado en 2019

Inactivating mutations in NPC1L1 and protection from coronary heart disease

artículo científico publicado en 2014

Influence of human leukocyte antigen (HLA) alleles and killer cell immunoglobulin-like receptors (KIR) types on heparin-induced thrombocytopenia (HIT).

artículo científico publicado en 2017

Integrating existing natural language processing tools for medication extraction from discharge summaries.

artículo científico publicado en 2010

Integrative genomics analyses unveil downstream biological effectors of disease-specific polymorphisms buried in intergenic regions

artículo científico publicado en 2016

Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes

artículo científico publicado en 2017

Joint mouse-human phenome-wide association to test gene function and disease risk

artículo científico publicado en 2016

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases

artículo científico publicado en 2016

Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation

artículo científico publicado en 2019

Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data

artículo científico publicado en 2013

Natural language processing improves identification of colorectal cancer testing in the electronic medical record

artículo científico publicado en 2011

New Insights into Clinical and Mechanistic Heterogeneity of the Acute Respiratory Distress Syndrome: Summary of the Aspen Lung Conference 2021

artículo científico publicado en 2022

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

article

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

artículo científico publicado en 2010

Phenome-Wide Association Studies as a Tool to Advance Precision Medicine

artículo científico publicado en 2016

Phenome-wide association analysis suggests the APOL1 linked disease spectrum primarily drives kidney-specific pathways

scientific article published on 17 February 2020

Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index

artículo científico publicado en 2014

Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants.

artículo científico publicado en 2017

PhenomeXcan: Mapping the genome to the phenome through the transcriptome

artículo científico publicado en 2020

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

scientific article published in Science

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2017

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

article

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

artículo científico publicado en 2019

Pulling the covers in electronic health records for an association study with self-reported sleep behaviors

scientific article published on 05 September 2018

R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment

artículo científico publicado en 2014

Rare variants in the gene ALPL that cause hypophosphatasia are strongly associated with ovarian and uterine disorders.

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Reply to Ward and Colleagues' Comment on "Using Human Experiments of Nature to Predict Drug Safety Issues: An Example with PCSK9 Inhibitors"

artículo científico publicado en 2018

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

artículo científico publicado en 2013

TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits

artículo científico publicado en 2015

The Gain-of-Function Integrin β3 Pro33 Variant Alters the Serotonin System in the Mouse Brain.

artículo científico publicado en 2017

The current state of omics technologies in the clinical management of asthma and allergic diseases

artículo científico publicado en 2019

The effect of genetic variation in PCSK9 on the LDL-cholesterol response to statin therapy

artículo científico publicado en 2016

The phenotypic legacy of admixture between modern humans and Neandertals

artículo científico publicado en 2016

Tracking medical students' clinical experiences using natural language processing

artículo científico publicado en 2009

Transcription factor ETV1 is essential for rapid conduction in the heart

artículo científico publicado en 2016

Using Human 'Experiments of Nature' to Predict Drug Safety Issues: An Example with PCSK9 Inhibitors

artículo científico publicado en 2017

Validation and enhancement of a computable medication indication resource (MEDI) using a large practice-based dataset

artículo científico publicado en 2013

Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies

artículo científico publicado en 2011

Lista de obras de

A Phenome-Wide Association Study Identifies a Novel Asthma Risk Locus Near TERC.

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects

A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough

A natural language processing algorithm to define a venous thromboembolism phenotype

A phenome-wide association study to discover pleiotropic effects of , , and

A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers

Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization

Association of ST2 polymorphisms with atopy, asthma, and leukemia

Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis

Association of estrogen receptor α polymorphism rs1999805 with asthma

Calcium Channel Blockers as Drug Repurposing Candidates for Gestational Diabetes: Mining large scale genomic and electronic health records data to repurpose medications

Cardiovascular toxicities associated with immune checkpoint inhibitors: an observational, retrospective, pharmacovigilance study

Case 40-2018: A Woman with Recurrent Sinusitis, Cough, and Bronchiectasis

Comparison of HLA allelic imputation programs.

Cox regression increases power to detect genotype-phenotype associations in genomic studies using the electronic health record

Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data

Defining the complex phenotype of severe systemic loxoscelism using a large electronic health record cohort

Development and evaluation of an ensemble resource linking medications to their indications

Development of a natural language processing system to identify timing and status of colonoscopy testing in electronic medical records

Development of an ensemble resource linking MEDications to their Indications (MEDI).

EHRs could clarify drug safety in pregnant people

Effects of G6pc2 deletion on body weight and cholesterol in mice

Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis

Evaluating electronic health record data sources and algorithmic approaches to identify hypertensive individuals.

Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record

Exploring the role of low-frequency and rare exonic variants in alcohol and tobacco use

Extracting timing and status descriptors for colonoscopy testing from electronic medical records.

GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish

Genetics of glucocorticoid-associated osteonecrosis in children with acute lymphoblastic leukemia

Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk

Glucagon-like peptide-1 receptor signaling attenuates RSV-induced type 2 responses and immunopathology

Identifying genetically driven clinical phenotypes using linear mixed models

IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells.

Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease

Inactivating mutations in NPC1L1 and protection from coronary heart disease

Influence of human leukocyte antigen (HLA) alleles and killer cell immunoglobulin-like receptors (KIR) types on heparin-induced thrombocytopenia (HIT).

Integrating existing natural language processing tools for medication extraction from discharge summaries.

Integrative genomics analyses unveil downstream biological effectors of disease-specific polymorphisms buried in intergenic regions

Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes

Joint mouse-human phenome-wide association to test gene function and disease risk

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases

Mapping ICD-10 and ICD-10-CM Codes to Phecodes: Workflow Development and Initial Evaluation

Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data

Natural language processing improves identification of colorectal cancer testing in the electronic medical record

New Insights into Clinical and Mechanistic Heterogeneity of the Acute Respiratory Distress Syndrome: Summary of the Aspen Lung Conference 2021

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

Phenome-Wide Association Studies as a Tool to Advance Precision Medicine

Phenome-wide association analysis suggests the APOL1 linked disease spectrum primarily drives kidney-specific pathways

Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index

Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants.

PhenomeXcan: Mapping the genome to the phenome through the transcriptome

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Pulling the covers in electronic health records for an association study with self-reported sleep behaviors

R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment

Rare variants in the gene ALPL that cause hypophosphatasia are strongly associated with ovarian and uterine disorders.

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

Reply to Ward and Colleagues' Comment on "Using Human Experiments of Nature to Predict Drug Safety Issues: An Example with PCSK9 Inhibitors"

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits

The Gain-of-Function Integrin β3 Pro33 Variant Alters the Serotonin System in the Mouse Brain.

The current state of omics technologies in the clinical management of asthma and allergic diseases

The effect of genetic variation in PCSK9 on the LDL-cholesterol response to statin therapy

The phenotypic legacy of admixture between modern humans and Neandertals

Tracking medical students' clinical experiences using natural language processing

Transcription factor ETV1 is essential for rapid conduction in the heart

Using Human 'Experiments of Nature' to Predict Drug Safety Issues: An Example with PCSK9 Inhibitors

Validation and enhancement of a computable medication indication resource (MEDI) using a large practice-based dataset

Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies