A5101817826- Inorganic Fluorides and Related Compounds
- Neuroblastoma Research and Treatments
- Organometallic Complex Synthesis and Catalysis
- Crystal Structures and Properties
- Magnetism in coordination complexes
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Metal complexes synthesis and properties
- Cancer, Hypoxia, and Metabolism
- Cancer Genomics and Diagnostics
- Inorganic Chemistry and Materials
- Fluorine in Organic Chemistry
- Biomedical Text Mining and Ontologies
- Synthetic Organic Chemistry Methods
- X-ray Diffraction in Crystallography
- Asymmetric Hydrogenation and Catalysis
- Vanadium and Halogenation Chemistry
- Inorganic and Organometallic Chemistry
- Ferrocene Chemistry and Applications
- Polyoxometalates: Synthesis and Applications
- Congenital heart defects research
- Virus-based gene therapy research
- Topic Modeling
- Congenital Heart Disease Studies
- Genetics and Neurodevelopmental Disorders
Southern Illinois University School of Medicine
2023-2024
Nationwide Children's Hospital
2019-2023
Imperial College London
2022
Cincinnati Children's Hospital Medical Center
2014-2021
University of Cincinnati
2017-2021
University of Cincinnati Medical Center
2019-2020
Children's Hospital of Philadelphia
2009-2019
Paraza Pharma (Canada)
2019
Cincinnati Health Department
2016
Harvard University
2013-2014
Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable disorder, but specific genetic factors underlying risk remain elusive. To assess the role of structural variation in ADHD, we identified 222 inherited copy number variations (CNVs) within 335 ADHD patients their parents that were not detected 2026 unrelated healthy individuals. Although no excess CNVs, either deletions or duplications, found cohort relative to controls, rare CNV-associated gene set was...
Partial monosomy of the short arm chromosome 1 is most consistent cytogenetic abnormality found in human neuroblastomas, but its overall frequency and significance are unclear. Using a panel chromosome-1-specific DNA probes that identify restriction fragment length polymorphisms, we demonstrate 13 47 neuroblastomas (28%) have somatic loss heterozygosity (LOH) at one or more loci on distal 1. chromosomal region shows LOH consistently between 1p36.1 1p36.3; gene genes this may be critical for...
We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly Caucasians (65.2%) and African-Americans (34.2%), was analyzed for CNVs single study uniform array platform computational process. have catalogued characterized 54,462 individual CNVs, 77.8% which were identified multiple unrelated individuals. These nonunique mapped to 3272 distinct regions genomic...
Rationale : Congenital heart disease (CHD) is among the most common birth defects. Most cases are of unknown pathogenesis. Objective To determine contribution de novo copy number variants (CNVs) in pathogenesis sporadic CHD. Methods and Results We studied 538 CHD trios using genome-wide dense single nucleotide polymorphism arrays whole exome sequencing. were experimentally validated digital droplet polymerase chain reaction. compared CNVs with 1301 healthy control trios. The 2 complementary...
Deletion of the short arm human chromosome 1 is most common cytogenetic abnormality observed in neuroblastoma. To characterize region consistent deletion, we performed loss heterozygosity (LOH) studies on 122 neuroblastoma tumor samples with 30 distal 1p polymorphisms. LOH was detected 32 tumors (26%). A single LOH, marked distally by D1Z2 and proximally D1S228, all demonstrating loss. Also, cells from a patient constitutional deletion 1p36, cell line small 1p36 were analyzed fluorescence...
Neuroblastomas are characterized by hemizygous 1p deletions, suggesting that a tumor suppressor gene resides in this region. We previously mapped the smallest region of consistent deletion to 2-Mb 1p36.31 encodes 23 genes. Based on mutation analysis, expression pattern, and putative function, we identified CHD5 as best candidate.We determined methylation status promoter NLF IMR5 (with deletion) SK-N-SH SK-N-FI neuroblastoma cell lines using methylation-specific sequencing measured mRNA...
Autism spectrum disorders (ASDs) comprise a constellation of highly heritable neuropsychiatric disorders. Genome-wide studies autistic individuals have implicated numerous minor risk alleles but few common variants, suggesting complex genetic model with many contributing loci. To assess commonality biological function among rare alleles, we compared functional knowledge genes overlapping inherited structural variants in idiopathic ASD subjects relative to healthy controls. In this study show...
Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities premature remain problematic. Although genetic factors contribute significantly to CHD, specific lesions unknown for most patients. The National Heart, Lung, Blood Institute-funded Pediatric Cardiac Genomics Consortium established Heart Disease Genetic Network Study investigate relationships between factors, clinical features, outcomes in CHD. comprises 6 main 4 satellite sites...
Copy number variants (CNVs) at chromosome 16p13.11 have been associated with a range of neurodevelopmental disorders including autism, ADHD, intellectual disability and schizophrenia. Significant sex differences in prevalence, course severity described for these conditions but the biological environmental factors underlying such sex-specific features remain unclear. We tested burden possible sex-biased effect CNVs sample 10,397 individuals conditions, clinically referred array comparative...
Abstract Objective The study sought to create an online resource that informs the public of coronavirus disease 2019 (COVID-19) outbreaks in their area. Materials and Methods This R Shiny application aggregates data from multiple resources track COVID-19 visualizes them through interactive, dashboard. Results Web resource, called Watcher, can be accessed (https://covid19watcher.research.cchmc.org/). It displays every county 188 metropolitan areas United States. Features include rankings...
PURPOSE: To determine the independent prognostic significance of 1p36 loss heterozygosity (LOH) in a representative group neuroblastoma patients. PATIENTS AND METHODS: Diagnostic tumor specimens from 238 patients registered onto most recent Children’s Cancer Group phase III clinical trials were assayed for LOH with 13 microsatellite polymorphic markers spanning chromosome band 1p36. Allelic status at was correlated other variables and disease outcome. RESULTS: detected 83 (35%)...
BACKGROUND AND METHODS. Genetic analysis of tumor tissue has provided considerable insight into mechanisms malignant transformation and progression. Neuroblastomas have been studied by cytogenetics, flow cytometry, molecular genetic techniques, these studies identified several specific abnormalities that allow subclassification tumors genetic/clinical subtypes. RESULTS DISCUSSION. Four are characteristic certain neuroblastomas. These include: (1) loss heterozygosity (LOH) for the short arm...
The antifungal antibiotic Rapamycin crystallises in the orthorhombic space group P2 1 2 with a = 34.85(2), b 13.08(1), c 12.25(1) Å. molecular structure has been determined by X-ray crystallography to be completely new type of macrolide formula C 51 H 79 NO 13 .
Multiple genetic syndromes are caused by recurrent chromosomal microdeletions or microduplications. The increasing use of high-resolution microarrays in clinical analysis has allowed the identification previously undetectable submicroscopic copy number variants (CNVs) associated with disorders. We hypothesized that patients congenital heart disease and additional dysmorphic features other anomalies would be likely to harbor undetected CNVs, which might identify new loci disease-related genes...