Eric W. Klee
A5044058635- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genetic factors in colorectal cancer
- Epigenetics and DNA Methylation
- Prostate Cancer Treatment and Research
- Cancer, Lipids, and Metabolism
- Glioma Diagnosis and Treatment
- Genomics and Phylogenetic Studies
- RNA modifications and cancer
- Gene expression and cancer classification
- Molecular Biology Techniques and Applications
- RNA Research and Splicing
- Genetic Syndromes and Imprinting
- Radiomics and Machine Learning in Medical Imaging
- Metabolism and Genetic Disorders
- RNA and protein synthesis mechanisms
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Chronic Lymphocytic Leukemia Research
- Immunodeficiency and Autoimmune Disorders
- Connective tissue disorders research
- Cancer-related molecular mechanisms research
- Cancer-related gene regulation
Mayo Clinic in Florida
2016-2025
Mayo Clinic
2016-2025
Mayo Clinic in Arizona
2012-2025
WinnMed
2011-2024
University of Minnesota Rochester
2015-2023
Jena University Hospital
2023
Radboud University Medical Center
2021
St. Antonius Ziekenhuis
2021
Radboud University Nijmegen
2021
Erasmus University Rotterdam
2021
Advanced cholangiocarcinoma continues to harbor a difficult prognosis and therapeutic options have been limited. During the course of clinical trial whole genomic sequencing seeking druggable targets, we examined six patients with advanced cholangiocarcinoma. Integrated genome-wide transcriptome sequence analyses were performed on tumors from advanced, sporadic intrahepatic (SIC) identify potential therapeutically actionable events. Among somatic events captured in our analysis, uncovered...
Recent studies have offered ample insight into genome-wide expression patterns to define pancreatic ductal adenocarcinoma (PDAC) subtypes, although there remains a lack of knowledge regarding the underlying epigenomics PDAC. Here we perform multi-parametric integrative analyses chromatin immunoprecipitation-sequencing (ChIP-seq) on multiple histone modifications, RNA-sequencing (RNA-seq), and DNA methylation epigenomic landscapes for PDAC which can predict their relative aggressiveness...
As reliable, efficient genome sequencing becomes ubiquitous, the need for similarly reliable and variant calling increasingly important. The Genome Analysis Toolkit (GATK), maintained by Broad Institute, is currently widely accepted standard software. However, alternative solutions may provide faster without sacrificing accuracy. One such Sentieon DNASeq, a toolkit analogous to GATK but built on highly optimized backend. We conducted an independent evaluation of DNASeq single-sample pipeline...
Abstract AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca 2+ -impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients intellectual disability (ID) neurodevelopmental...
Abstract Purpose: Glioblastoma is the most frequent and lethal primary brain tumor. Development of novel therapies relies on availability relevant preclinical models. We have established a panel 96 glioblastoma patient-derived xenografts (PDX) undertaken its genomic phenotypic characterization. Experimental Design: PDXs were from glioblastoma, IDH-wildtype (n = 93), IDH-mutant 2), diffuse midline glioma, H3 K27M-mutant 1), both 60) recurrent 34) tumors. Tumor growth rates, histopathology,...
Abstract Background Massive parallel sequencing has the potential to replace microarrays as method for transcriptome profiling. Currently there are two protocols: full-length RNA (RNA-SEQ) and 3'-tag digital gene expression (DGE). In this preliminary effort, we evaluated 3' DGE approach using reference samples from MicroArray Quality Control Consortium (MAQC). Results Using Brain sample multiple runs, demonstrated that transcript profiles were highly reproducible between technical biological...
Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or gain-of-function of voltage-gated K+ channel Kv1.2, were described to cause new molecular entity within epileptic encephalopathies. Here, we report cohort 23 patients (eight previously described) with encephalopathy carrying novel known KCNA2 mutations, aim detail clinical phenotype associated each them, characterize functional effects newly identified and assess genotype-phenotype...
Abstract Purpose: The aim of this study was to investigate the promoter hypermethylation as diagnostic markers detect malignant prostate cells and prognostic predict clinical recurrence cancer. Experimental Design: DNA isolated from cancer normal adjacent tissues. After bisulfite conversion, methylation 14,495 genes evaluated using Methylation27 microarrays in 238 We analyzed profiles four different groups: (i) tumor (n = 198) versus matched tissues 40), (ii) 123) nonrecurrence 75), (iii)...
Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting myelin sheath. We have used whole-exome sequencing patients with undetermined leukoencephalopathies to uncover endoplasmic reticulum lipid desaturase DEGS1 as causative gene 19 from 13 unrelated families. Shared features among cases include severe motor arrest, early nystagmus, dystonia, spasticity, and profound failure thrive. MRI showed hypomyelination, thinning corpus callosum, progressive thalamic...