A5044036675- Congenital Heart Disease Studies
- Genomics and Rare Diseases
- Cardiovascular Issues in Pregnancy
- Cardiac Structural Anomalies and Repair
- Autism Spectrum Disorder Research
- Genomics and Chromatin Dynamics
- Folate and B Vitamins Research
- Machine Learning in Healthcare
- Tracheal and airway disorders
- Text Readability and Simplification
- Chromatin Remodeling and Cancer
- Biomedical Text Mining and Ontologies
- Cardiomyopathy and Myosin Studies
- Muscle Physiology and Disorders
- Genetics and Neurodevelopmental Disorders
- Anesthesia and Neurotoxicity Research
- Topic Modeling
- Prenatal Substance Exposure Effects
- Adipose Tissue and Metabolism
- Cystic Fibrosis Research Advances
- Family and Disability Support Research
- Mitochondrial Function and Pathology
- Fetal and Pediatric Neurological Disorders
- Microtubule and mitosis dynamics
- Prenatal Screening and Diagnostics
University of Arizona
2018-2025
Children's Medical Center
2024
Banner - University Medical Center Tucson
2023
National Center on Birth Defects and Developmental Disabilities
2020
Children's Healthcare of Atlanta
2020
Objective Multi-center implementation of rapid whole genome sequencing with assessment the clinical utility (rWGS), including positive, negative and uncertain results, in admitted infants a suspected genetic disease. Study design rWGS tests were ordered at eight hospitals between November 2017 April 2020. Investigators completed survey demographic data, Human Phenotype Ontology (HPO) terms, test results impacts on care. Results A total 188 patients, general hospital floors intensive care...
ABSTRACT Background Almost half of individuals born with Down syndrome (DS) have congenital heart defects (CHDs). Yet, little is known about the health and healthcare needs adults CHDs DS. Therefore, we examined comorbidities utilization this population. Methods Data were from 2016–2019 Congenital Heart Survey to Recognize Outcomes, Needs, well‐beinG (CH STRONG), a survey 19–38‐year‐olds identified through birth registries in Arkansas, Arizona, Atlanta. Outcome estimates standardized CH...
Electronic health records (EHRs) bring many opportunities for information utilization. One such use is the surveillance conducted by Centers Disease Control and Prevention to track cases of autism spectrum disorder (ASD). This process currently comprises manual collection review EHRs 4- 8-year old children in 11 US states presence ASD criteria. The work time-consuming expensive.
Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical molecular data on a large cohort.Clinical symptoms for 41 novel 24 previously published affected individuals were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlations, standardized grouped into non-truncating likely gene-disrupting (LGD) variants....
Quantifying associations between genetic mutations and loss of ambulation (LoA) among males diagnosed with childhood-onset dystrophinopathy is important for understanding variation in disease progression may be useful clinical trial design.
An estimated 1.4 million adults in the United States live with congenital heart defects (CHDs), yet their health outcomes are not well understood (1). Using self-reported, cross-sectional data from 1,482 respondents 2016-2019 Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG (CH STRONG) (2), CDC academic partners prevalence of comorbidities among CHDs aged 20-38 years born Arizona (AZ), Arkansas (AR), metropolitan Atlanta, Georgia (GA) compared general population (aged...
Abstract Objective Machine learning (ML) is increasingly employed to diagnose medical conditions, with algorithms trained assign a single label using black-box approach. We created an ML approach deep that generates outcomes are transparent and in line clinical, diagnostic rules. demonstrate our for autism spectrum disorders (ASD), neurodevelopmental condition increasing prevalence. Methods use unstructured data from the Centers Disease Control Prevention (CDC) surveillance records labeled...
Background Spina bifida accounts for a large proportion of birth defects in the United States. Studies have evaluated decrease prevalence at after folate fortification food grains, but little is known about neurologic functional changes related to fortification. This study assesses level lesions prefortification and postfortification eras. Methods Data were collected through retrospective review medical records from regional multispecialty clinic Arizona. included individuals born between...
Abstract Background and Objectives Glomerulopathies affect kidney glomeruli can lead to end‐stage renal disease if untreated. Clinical experimental evidence have identified numerous (>20) genetic mutations in the mitochondrial coenzyme Q8B protein ( COQ8B ) primarily associated with nephrotic syndrome. Yet, little else is understood about activity pathogenesis its role dysfunction. We additional novel a glomerulopathy patient aimed define potential structural functional defects of...
Background: Women with disabilities are less likely to receive reproductive health counseling than women without disabilities. Yet, little is known about and concerns among congenital heart defects (CHD) Methods: We used population-based survey data from 778 aged 19 38 years CHD examine contraceptive pregnancy experiences by disability status, based on six validated questions vision, hearing, mobility, cognition, self-care, living independently. Multivariable Poisson regression was adjusted...
Key Clinical Message We present a patient with clinical diagnosis of Joubert syndrome COACH phenotype who carries two TMEM 67 variants uncertain significance ( VUS ). One can be reclassified as “likely pathogenic” by adding data. As genetic testing becomes more accessible, will require correlation for accurate classification.
Background The diagnosis of fetal alcohol syndrome (FAS) rests on identification characteristic facial, growth, and central nervous system (CNS) features. Public health surveillance FAS depends documentation these characteristics. We evaluated if reporting characteristics is associated with the type provider examining child. Methods analyzed cases aged 7–9 years from Fetal Alcohol Syndrome Surveillance Network II (FASSNetII). included whose records (qualifying provider: developmental...
Single-cell RNA sequencing (scRNA) is a powerful technique that allows analysis of cell heterogeneity within tissue. Here, we used scRNA to analyze skin punch biopsies from 2 healthy controls compared 3 individuals with Hypermobile Ehlers-Danlos Syndrome (hEDS), heritable connective tissue disorder without clear genetic etiology. Previous culture and studies have identified an increased frequency myofibroblasts, which are characterized by dysregulation the smooth muscle alpha (α)-2 actin...
Abstract Introduction Structural variants (SVs) of the nebulin gene ( NEB ), including intragenic duplications, deletions, and copy number variation triplicate region, are an established cause recessively inherited nemaline myopathies related neuromuscular disorders. Large deletions have been shown to dominantly distal myopathies. Here we provide overview 35 families with muscle disorders caused by such SVs in . Methods Using custom Comparative Genomic Hybridization arrays, exome sequencing,...
<sec> <title>BACKGROUND</title> Machine learning (ML) is increasingly employed to predict risk for a variety of medical conditions. Commonly, large datasets are created using electronic health records (EHR) and algorithms assign single, often binary, label. No rationale provided the label performance usually poor when small. </sec> <title>OBJECTIVE</title> Our approach demonstrates feasibility small with deep ML by training first on intermediate steps where redundant information available....
ABSTRACT PURPOSE Coffin-Siris and Nicolaides-Baraitser syndromes, are recognisable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical molecular data on a large cohort. METHODS Clinical symptoms for 41 novel 24 previously published cases were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlation, standardized grouped into non-truncating likely gene-disrupting...
Introduction: The American Heart Association (AHA) recommends clinicians discuss reproductive health with women congenital heart defects (CHD) beginning in adolescence due to their unique pregnancy and contraceptive needs. Therefore, we assessed counseling experiences among CHD, differences by CHD severity. Methods: Women ages 19 38 years, identified active, population-based birth registries from Arkansas, Arizona, Atlanta, GA, completed the Congenital Survey To Recognize Outcomes, Needs,...
<sec> <title>BACKGROUND</title> Electronic health records (EHRs) bring many opportunities for information utilization. One such use is the surveillance conducted by Centers Disease Control and Prevention to track cases of autism spectrum disorder (ASD). This process currently comprises manual collection review EHRs 4- 8-year old children in 11 US states presence ASD criteria. The work time-consuming expensive. </sec> <title>OBJECTIVE</title> Our objective was automatically extract from...
Most females with congenital heart defects (CHD) will reach reproductive age. Our objective was to examine whether presence of disabilities is associated health counseling, concerns, and experiences among women CHD. Methods: We used 2016-2019 population-based data from the Congenital Heart Survey To Recognize Outcomes, Needs, well-beinG (CH STRONG) ages 19 38 years CHD born in Arkansas, Arizona, Atlanta, Georgia. examined contraceptive pregnancy concerns experiences, marital history by...