Diane T. Smelser
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View article: Novel polygenic risk score associates with diverticulitis in a multi-institutional, ancestrally diverse cohort
Novel polygenic risk score associates with diverticulitis in a multi-institutional, ancestrally diverse cohort Open
Diverticulitis is a common and morbid colorectal disease that recurs after an initial attack in up to 30% of patients. Elective surgery to remove the affected portion of the colon is an effective intervention to prevent disease recurrence,…
View article: Genetic Landscape of Myelodysplastic Syndrome and Clonal Hematopoiesis: Insights From Whole Exome Sequencing of 90 000 Individuals
Genetic Landscape of Myelodysplastic Syndrome and Clonal Hematopoiesis: Insights From Whole Exome Sequencing of 90 000 Individuals Open
Analysis of whole-exome sequencing data from 92,434 MyCode EHR-linked biobank participants characterizes the spectrum and co-mutation architecture of clonal hematopoiesis and myelodysplastic syndromes (MDS). Age-related increases in varian…
View article: TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders
TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders Open
View article: Genome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and Dissection
Genome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and Dissection Open
Background Thoracic aortic aneurysm and dissection (TAAD) can have catastrophic health consequences. Eleven genes have strong or definitive evidence for causing heritable TAAD (HTAAD). However, patients are seldom tested for rare pathogeni…
View article: Genetic variants predisposing to an increased risk of kidney stone disease
Genetic variants predisposing to an increased risk of kidney stone disease Open
BACKGROUNDKidney stone disease (KSD) affects approximately 10% of adults, is heritable, and is associated with mineral metabolic abnormalities.METHODSGenetic variants and pathways increasing KSD risk via calcium and phosphate homeostasis w…
View article: Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy
Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy Open
View article: Genomic ascertainment of<i>CHEK2</i>-related cancer predisposition
Genomic ascertainment of<i>CHEK2</i>-related cancer predisposition Open
Purpose There is clear evidence that deleterious germline variants in CHEK2 increases risk for breast and prostate cancers; there is limited or conflicting evidence for other cancers. Genomic ascertainment was used to quantify cancer risk …
View article: A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts
A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts Open
Estimates of pathogenic germline DICER1 prevalence, thyroid disease penetrance and cancer phenotype from genomically ascertained adults are determined in two large cohorts.
View article: Genome-wide association analysis reveals insights into the molecular etiology underlying dilated cardiomyopathy
Genome-wide association analysis reveals insights into the molecular etiology underlying dilated cardiomyopathy Open
Dilated cardiomyopathy (DCM) is a clinical disorder characterised by reduced contractility of the heart muscle that is not explained by coronary artery disease or abnormal haemodynamic loading. Although Mendelian disease is well described,…
View article: Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants Open
View article: Genetic Basis of Thoracic Aortic Aneurysms in a Large Unselected Clinical Population
Genetic Basis of Thoracic Aortic Aneurysms in a Large Unselected Clinical Population Open
View article: Genome-wide association study of neck circumference identifies sex-specific loci independent of generalized adiposity
Genome-wide association study of neck circumference identifies sex-specific loci independent of generalized adiposity Open
Background/objectives Neck circumference, an index of upper airway fat, has been suggested to be an important measure of body-fat distribution with unique associations with health outcomes such as obstructive sleep apnea and metabolic dise…
View article: Do Hernias Contribute to Increased Severity of Aneurysmal Disease among Abdominal Aortic Aneurysm Patients?
Do Hernias Contribute to Increased Severity of Aneurysmal Disease among Abdominal Aortic Aneurysm Patients? Open
Background Connective tissue disorders could contribute to the pathogenesis of both abdominal aortic aneurysms (AAA) and hernias. We tested the hypothesis that hernias in AAA patients contribute to increased severity of the aneurysmal dise…
View article: Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population Open
View article: Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes
Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes Open
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with variants in desmosome genes. Secondary findings of pathogenic/likely pathogenic variants, primarily loss-of-function (LOF) variants, are recommended for …
View article: Rare-variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations of orphan G protein–coupled receptors
Rare-variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations of orphan G protein–coupled receptors Open
The pace of deorphanization of G protein-coupled receptors (GPCRs) has slowed, and new approaches are required. Small molecule targeting of orphan GPCRs can potentially be of clinical benefit even if the endogenous receptor ligand has not …
View article: Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure Open
Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insight…
View article: Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants Open
Background: Truncating variants in the Titin gene (TTNtvs) are common in individuals with idiopathic dilated cardiomyopathy (DCM). However, a comprehensive genomics-first evaluation of the impact of TTNtvs in different clinical contexts, a…
View article: Calcium Sensing Receptor Common Variants Influence the Effects of Serum Calcium on Coronary Artery Disease Risks
Calcium Sensing Receptor Common Variants Influence the Effects of Serum Calcium on Coronary Artery Disease Risks Open
Rationale The calcium-sensing receptor (CaSR) regulates serum calcium concentrations and common single nucleotide polymorphisms (SNPs) in a carboxyl terminal tri-locus haplotype block contribute to serum calcium variance in the general pop…
View article: Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation Open
In a case-control study, there was a statistically significant association between an LOF variant in the TTN gene and early-onset AF, with the variant present in a small percentage of participants with early-onset AF (the case group). Furt…
View article: Rare variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations
Rare variant pathogenicity triage and inclusion of synonymous variants improves analysis of disease associations Open
Many G protein-coupled receptors (GPCRs) lack common variants that lead to reproducible genome-wide disease associations. Here we used rare variant approaches to assess the disease associations of 85 orphan or understudied GPCRs in an unse…
View article: Genetic risk models: Influence of model size on risk estimates and precision
Genetic risk models: Influence of model size on risk estimates and precision Open
Disease risk estimation plays an important role in disease prevention. Many studies have found that the ability to predict risk improves as the number of risk single‐nucleotide polymorphisms (SNPs) in the risk model increases. However, the…
View article: Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci
Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci Open
Rationale: Abdominal aortic aneurysm (AAA) is a complex disease with both genetic and environmental risk factors. Together, 6 previously identified risk loci only explain a small proportion of the heritability of AAA. Objective: To identif…
View article: The Geisinger MyCode community health initiative: an electronic health record–linked biobank for precision medicine research
The Geisinger MyCode community health initiative: an electronic health record–linked biobank for precision medicine research Open
View article: Using HMORN’s Virtual Data Warehouse From Two Health Systems to Identify Risk Factors for Abdominal Aortic Aneurysm
Using HMORN’s Virtual Data Warehouse From Two Health Systems to Identify Risk Factors for Abdominal Aortic Aneurysm Open
Background/Aims: Abdominal aortic aneurysm (AAA) is a leading cause of death in the United States, often undetected until rupture. At least 33% of ruptured AAA hospitalizations are among women, and 22% of AAA-related deaths occur in nonsmo…
View article: ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow
ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow Open
This ePhenotyping algorithm identifies abdominal aortic aneurysm cases and controls from the electronic health record with high case and control PPV necessary for research purposes, can be disseminated easily, and applied to high-throughpu…