J. A. Barnard
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View article: Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database Open
Incomplete penetrance, or absence of disease phenotype in an individual with a disease-associated variant, is a major challenge in variant interpretation. Studying individuals with apparent incomplete penetrance can shed light on underlyin…
View article: Genetic Architecture and Analysis Practices of Circulating Metabolites in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program
Genetic Architecture and Analysis Practices of Circulating Metabolites in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program Open
Circulating metabolite levels partly reflect the state of human health and diseases and can be impacted by genetic determinants. Hundreds of loci associated with circulating metabolites have been identified; however, most findings focus on…
View article: Traumatic testicular injuries in appalachia: A ten-year review from a level 1 trauma center and comparison to the national trauma data bank®
Traumatic testicular injuries in appalachia: A ten-year review from a level 1 trauma center and comparison to the national trauma data bank® Open
While only 20% of the nation’s population lives in rural areas, 40% of the Appalachian population resides in rural areas. Due to the rural nature of this region we hypothesized this may have implications regarding the outcomes of traumatic…
View article: Characterization of Electronic Health Record Use Outside Scheduled Clinic Hours Among Primary Care Pediatricians: Retrospective Descriptive Task Analysis of Electronic Health Record Access Log Data
Characterization of Electronic Health Record Use Outside Scheduled Clinic Hours Among Primary Care Pediatricians: Retrospective Descriptive Task Analysis of Electronic Health Record Access Log Data Open
Background Many of the benefits of electronic health records (EHRs) have not been achieved at expected levels because of a variety of unintended negative consequences such as documentation burden. Previous studies have characterized EHR us…
View article: Characterization of Electronic Health Record Use Outside Scheduled Clinic Hours Among Primary Care Pediatricians: Retrospective Descriptive Task Analysis of Electronic Health Record Access Log Data (Preprint)
Characterization of Electronic Health Record Use Outside Scheduled Clinic Hours Among Primary Care Pediatricians: Retrospective Descriptive Task Analysis of Electronic Health Record Access Log Data (Preprint) Open
BACKGROUND Many of the benefits of electronic health records (EHRs) have not been achieved at expected levels because of a variety of unintended negative consequences such as documentation burden. Previous studies have characterized EHR u…
View article: Identifying functional genes and pathways towards a unifying model for atrial fibrillation
Identifying functional genes and pathways towards a unifying model for atrial fibrillation Open
Rationale Genome wide association studies (GWAS) have associated >100 genetic loci with atrial fibrillation (AF), yet the biological pathways of AF remain elusive. Objective To determine candidate causal genes associated with AF risk loci …
View article: Type 2 Diabetes Subtype Responsive to ACCORD Intensive Glycemia Treatment
Type 2 Diabetes Subtype Responsive to ACCORD Intensive Glycemia Treatment Open
Objective Current type 2 diabetes (T2D) management contraindicates intensive glycemia treatment in patients with high cardiovascular disease (CVD) risk, and is partially motivated by evidence of harms in the Action to Control Cardiovascula…
View article: Type 2 Diabetes Subtype Responsive to ACCORD Intensive Glycemia Treatment
Type 2 Diabetes Subtype Responsive to ACCORD Intensive Glycemia Treatment Open
Objective Current type 2 diabetes (T2D) management contraindicates intensive glycemia treatment in patients with high cardiovascular disease (CVD) risk, and is partially motivated by evidence of harms in the Action to Control Cardiovascula…
View article: Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height Open
Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 SNPs across approxi…
View article: Evaluating drug targets through human loss-of-function genetic variation
Evaluating drug targets through human loss-of-function genetic variation Open
Naturally occurring human genetic variants that are predicted to inactivate protein-coding genes provide an in vivo model of human gene inactivation that complements knockout studies in cells and model organisms. Here we report three key f…
View article: Quality Improvement Leadership in Academic Children’s Hospitals
Quality Improvement Leadership in Academic Children’s Hospitals Open
Children’s hospitals operate in a health care environment that is dramatically different from a decade ago. The public nature of the Institute of Medicine’s “Crossing the Quality Chasm”1 brought health care quality to hospital boards’ atte…