A5002823584- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Childhood Cancer Survivors' Quality of Life
- Congenital Diaphragmatic Hernia Studies
- Cancer Genomics and Diagnostics
- Congenital heart defects research
- Global Cancer Incidence and Screening
- Ubiquitin and proteasome pathways
- Cell Adhesion Molecules Research
- Cancer-related Molecular Pathways
- Gestational Diabetes Research and Management
- Statistical Methods in Clinical Trials
- Cell death mechanisms and regulation
- Reproductive System and Pregnancy
- Ethics and Legal Issues in Pediatric Healthcare
- Epigenetics and DNA Methylation
- Congenital Heart Disease Studies
- Autism Spectrum Disorder Research
- CRISPR and Genetic Engineering
- Genomics and Chromatin Dynamics
- Meta-analysis and systematic reviews
- Ovarian function and disorders
- Cancer Risks and Factors
- Genetic factors in colorectal cancer
- Neonatal Respiratory Health Research
Brown University
2025
Oregon Health & Science University
2024
Boston Children's Hospital
2021-2022
Boston Children's Museum
2021
Franciscan University of Steubenville
2019
SUNY Geneseo
2017
Serum AMH levels in adult women are part of the diagnostic criteria for polycystic ovary syndrome (PCOS), a condition with marked infertility and metabolic risks. Yet, little is known about among from ethnic minority populations, especially its associations age obesity. The objective to describe association serum anti-mullerian hormone (AMH) Samoan women, provide specific reference levels, examine adiposity reproductive factors. A cross-sectional, retrospective study representative...
Objectives: A key output of pharmacometric modeling is an informative, well-formatted table summarizing the estimated parameters. For each parameter, users must define all names and units, calculate confidence intervals (CIs) and/or relative standard errors (RSE), perform any required back-transformations; essential but often tedious time-consuming activity. The aim was to provide a simple, reproducible, traceable method for generating parameter tables in R NONMEMⓇ models. Attained via new...
Abstract Background Early initiation of breast cancer screening is recommended for high-risk women, including survivors childhood treated with chest radiation. Recent studies suggest that female leukemia or sarcoma without radiation are also at elevated early onset risk. However, the potential clinical benefits and cost-effectiveness among these women uncertain. Methods Using data from Childhood Cancer Survivor Study, we adapted 2 Intervention Surveillance Modeling Network simulation models...
Newborn population-based genetic screening may reduce pediatric cancer deaths and could be cost-effective.1 Testing siblings of newborns with variants (ie, cascade testing) further improve population health.2 Economic studies testing have focused on adults, although evidence suggests that cost-effectiveness improves for some syndromes when surveillance is initiated in younger individuals.3 Our objective was to estimate the benefits costs susceptibility gene variants.
Abstract Cre recombinase knock‐in mouse lines have served as invaluable genetic tools for understanding key developmental processes altered in autism. However, insertion of exogenous DNA into the genome can unintended effects on local gene regulation or protein function that must be carefully considered. Here, we analyze a recently generated Tbr1‐2A‐CreER line, where 2A‐CreER cassette was inserted in‐frame before stop codon transcription factor Tbr1 . Heterozygous TBR1 mutations humans and...
ABSTRACT Spatiotemporal control of Cre-mediated recombination has been an invaluable tool for understanding key developmental processes. For example, knock-in Cre into cell type marker gene loci drives expression under endogenous promoter and enhancer sequences, greatly facilitating the study diverse neuronal subtypes in cerebral cortex. However, insertion exogenous DNA genome can have unintended effects on local regulation or protein function that must be carefully considered. Here, we...
Identification of children and infants with Li-Fraumeni syndrome prompts tumor surveillance allows potential early cancer detection. We assessed the clinical benefits cost-effectiveness population-wide newborn screening for TP53 variants (TP53-NBS).We simulated impact TP53-NBS using data regarding TP53-associated pediatric cancers pathogenic or likely (P/LP) from Surveillance, Epidemiology, End Results; ClinVar gnomAD; studies. an annual US birth cohort under usual care estimated benefits,...
Abstract CD95/FasL is a membrane bound molecule that can be cleaved by metalloproteinases to produce soluble form. The purpose of these experiments was determine the influence on intraocular tumor growth and liver metastases. P815 tumors transplanted into anterior chamber eye Balb/C J mice formed metastasized in 33% mice. In contrast, ΔCS mice, engineered with point mutation prevents cleavage form, rejected (ΔCS ocular weight = 20+/− 15 mg; 99+/−34) did not develop Anti-tumor antibody...