Melissa Kelly
A5001742369- Genomics and Rare Diseases
- Migration and Labor Dynamics
- Cardiomyopathy and Myosin Studies
- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Genetic Associations and Epidemiology
- Cardiovascular Effects of Exercise
- Diaspora, migration, transnational identity
- Genomic variations and chromosomal abnormalities
- Migration, Ethnicity, and Economy
- Migration, Refugees, and Integration
- Congenital heart defects research
- Clinical Laboratory Practices and Quality Control
- Lipoproteins and Cardiovascular Health
- Health Systems, Economic Evaluations, Quality of Life
- Innovations in Medical Education
- Healthcare professionals’ stress and burnout
- Genetics, Bioinformatics, and Biomedical Research
- Cardiac pacing and defibrillation studies
- Cell Adhesion Molecules Research
- Nutrition, Genetics, and Disease
- Biomedical and Engineering Education
- Connective tissue disorders research
- Advances in Oncology and Radiotherapy
- Microtubule and mitosis dynamics
Geisinger Medical Center
2020-2025
HudsonAlpha Institute for Biotechnology
2021-2024
Genomic Health (United States)
2023-2024
Geisinger Health System
2019-2024
Albion Centre
2024
American Society for Clinical Pathology
2016-2024
Penn State Milton S. Hershey Medical Center
2022-2024
World Bank
2023
Toronto Metropolitan University
2022-2023
Ambry Genetics (United States)
2023
Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order investigate the criteria and processes assigning pathogenicity of specific variants estimate frequency patients European African ancestry, we classified potentially actionable pathogenic single-nucleotide (SNVs) all 4300 European- 2203 African-ancestry participants sequenced by NHLBI Exome Sequencing Project (ESP). We considered 112 gene-disease pairs selected...
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College Medical Genetics and Genomics/Association for Molecular Pathology classification framework specific genes diseases. Cardiomyopathy Expert Panel selected MYH7, a key contributor inherited cardiomyopathies, as pilot gene develop broadly applicable approach.MethodsExpert revisions were tested...
The importance of the left-handed polyproline II (PPII) helical conformation has recently become apparent. This generally is involved in two important functions: protein−protein interactions and structural integrity. PPII helices play vital roles a variety processes including signal transduction, transcription, cell motility. Proline-rich regions sequence are often assumed to adopt this structure. Remarkably, little known about physical determinants secondary structure type. In study, we...
Despite the importance of Mcl-1, an anti-apoptotic Bcl-2 family member, in regulation apoptosis, little is known regarding its role nervous system development and injury-induced neuronal cell death. Because germline deletion Mcl-1 results peri-implantation lethality, we address function using two different conditional mouse mutants developing system. Here, show for first time that required development. Neural precursors within ventricular zone newly committed neurons cortical plate express...
Background: Truncating variants in the Titin gene (TTNtvs) are common individuals with idiopathic dilated cardiomyopathy (DCM). However, a comprehensive genomics-first evaluation of impact TTNtvs different clinical contexts, and modifiers such as genetic ancestry, has not been performed. Methods: We reviewed whole exome sequence data for >71 000 (61 040 from Geisinger MyCode Community Health Initiative (2007 to present) 10 273 PennMedicine BioBank (2013 identify anyone TTNtvs. further...
Abstract Research into the mobility of European Union (EU) citizens has contributed to a better understanding social effects integration. A growing body literature highlights that naturalised third‐country nationals are also making use their ‘freedom movement’. This paper proposes typology ‘new EU citizens’ who onward migrate between member states. It draws on relevant statistics and qualitative empirical research carried out with Dutch‐Somalis, Swedish‐Iranians, German‐Nigerians relocated...
Abstract Rare genetic disorders (RGDs) often exhibit significant clinical variability among affected individuals, a disease characteristic termed variable expressivity. Recently, the aggregate effect of common variation, quantified as polygenic scores (PGSs), has emerged an effective tool for predictions risk and trait variation in general population. Here, we measure PGSs on 11 RGDs including four sex-chromosome aneuploidies (47,XXX; 47,XXY; 47,XYY; 45,X) that affect height; two copy-number...
Three genetic conditions—hereditary breast and ovarian cancer syndrome, Lynch familial hypercholesterolemia—have tier 1 evidence for interventions that reduce morbidity mortality, prompting proposals to screen unselected populations these conditions. We examined the impact of genomic screening on risk management early detection in an population. Observational study electronic health records (EHR) among individuals whom a pathogenic/likely pathogenic variant gene was discovered through...
The study explored job stress, burnout, work-life balance, well-being, and satisfaction among pathology residents fellows. aims were to examine the prevalence sources of stress as well identify resources promote balance well-being prevent burnout.The used a cross-sectional survey deployed online large national sample fellows.Job burnout prevalent, with more than third respondents reporting that they currently experiencing burnout. respondents, particularly residents, struggling academics,...
Understanding mechanisms of hepatocellular damage may lead to new treatments for liver disease, and genome-wide association studies (GWAS) alanine aminotransferase (ALT) aspartate (AST) serum activities have proven useful investigating biology. Here we report 100 loci associating with both enzymes, using GWAS across 411,048 subjects in the UK Biobank. The rare missense variant SLC30A10 Thr95Ile (rs188273166) associates largest elevation this replicates DiscovEHR study. excretes manganese...
Background: Administration of cyproterone acetate (CPA), to reduce the production and effects testosterone, is often part clinical regimens for trans individuals seeking feminization. Due potency CPA, there are dose-related side over-suppression testosterone that can occur.
The authors examined students’ reports of their college choice process to understand the influence a set psychological, personal, and institutional factors. also potential moderating influences generational status, gender, race, SES on our variables interest. A diverse sample freshmen (N 1,339), including 42% who were first in families attend college, responded self-reporting, Web-based survey. Findings indicate that psychosocial factors academic quality most influential for first-generation...
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) are recommended for clinical reporting; however, their prevalence and phenotype a general population not fully characterized. Methods: From whole-exome sequencing 61 019 individuals the DiscovEHR cohort, we screened putative PKP2 , DSC2 DSG2 DSP . We evaluated measures from prior ECG...
Abstract Exome and genome sequencing are increasingly utilized in research studies clinical care can provide clinically relevant information beyond the initial intent for sequencing, including medically actionable secondary findings. Despite ongoing debate about sharing this with patients participants, a growing number of laboratories programs routinely report findings that increase risk selected diseases. Recently, there has been push to maximize potential benefit practice by implementing...