Kevin Stachelek
YOU?
Author Swipe
View article: Trio exome sequencing of an optic nerve hypoplasia cohort reveals evidence for polygenic architecture
Trio exome sequencing of an optic nerve hypoplasia cohort reveals evidence for polygenic architecture Open
Mutationally constrained genes with potentially pathogenic mutations were enriched in gene ontologies related to neuro developmental processes, were expressed in RGCs at significantly higher levels than random exome variant genes, and were…
View article: Author response: Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features
Author response: Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features Open
View article: Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features
Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features Open
Human cone photoreceptors differ from rods and serve as the retinoblastoma cell-of-origin, yet the developmental basis for their distinct behaviors is poorly understood. Here, we used deep full-length single-cell RNA-sequencing (scRNA-seq)…
View article: Chevreul: an R bioconductor package for exploratory analysis of full-length single cell sequencing
Chevreul: an R bioconductor package for exploratory analysis of full-length single cell sequencing Open
Chevreul is an open-source R Bioconductor package and interactive R Shiny app for processing and visualising single-cell RNA sequencing (scRNA-seq) data. Chevreul differs from other scRNA-seq analysis packages in its ease of use, capacity …
View article: Author response: Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features
Author response: Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features Open
View article: Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features
Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features Open
Human cone photoreceptors differ from rods and serve as the retinoblastoma cell-of-origin, yet the developmental basis for their distinct behaviors is poorly understood. Here, we used deep full-length single-cell RNA-sequencing (scRNA-seq)…
View article: Chevreul: An R Bioconductor Package for Exploratory Analysis of Full-Length Single Cell Sequencing
Chevreul: An R Bioconductor Package for Exploratory Analysis of Full-Length Single Cell Sequencing Open
Chevreul is an open-source R Bioconductor package and interactive R Shiny app for processing and visualization of single cell RNA sequencing (scRNA-seq) data. It differs from other scRNA- seq analysis packages in its ease of use, its capac…
View article: Author response: Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features
Author response: Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features Open
View article: Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features
Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features Open
Human cone photoreceptors differ from rods and serve as the retinoblastoma cell-of-origin. Here, we used deep full-length single-cell RNA-sequencing to distinguish post-mitotic cone and rod developmental states and cone-specific features t…
View article: Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features
Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features Open
Human cone photoreceptors differ from rods and serve as the retinoblastoma cell-of-origin, yet the developmental basis for their distinct behaviors is poorly understood. Here, we used deep full-length single-cell RNA-sequencing (scRNA-seq)…
View article: Phenotypic Biomarkers of Aqueous Extracellular Vesicles from Retinoblastoma Eyes
Phenotypic Biomarkers of Aqueous Extracellular Vesicles from Retinoblastoma Eyes Open
Recent advancements in aqueous humor (AH) cell-free DNA (cfDNA) genomics have opened new avenues for ex vivo molecular profiling of retinoblastoma (RB), the most common pediatric intraocular malignancy, where biopsy is typically prohibited…
View article: Supplemental Figure 4 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma
Supplemental Figure 4 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma Open
Supplemental Figure 4, online only: Initial Copy Number Alteration (CNA) profile from eyes that were successfully salvaged with treatment
View article: Supplemental Figure 2 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma
Supplemental Figure 2 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma Open
Supplemental Figure 2, online only: Hierarchical clustering matrix based on the genomic instability of the Copy Number Alteration (CNA) profiles of all the AH samples included in this analysis. Samples are listed by Case number_# based on …
View article: Supplemental Figure 1 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma
Supplemental Figure 1 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma Open
Supplemental Figure 1, online only: a positive correlation was seen between the age at diagnosis and genomic instability which is defined as the overall size of the copy number variation found in the initial AH samples (p=<0.0001, R2=0.658…
View article: Supplemental Figure 4 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma
Supplemental Figure 4 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma Open
Supplemental Figure 4, online only: Initial Copy Number Alteration (CNA) profile from eyes that were successfully salvaged with treatment
View article: Data from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma
Data from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma Open
Tumor-derived cell-free DNA (cfDNA) has biomarker potential; therefore, this study aimed to identify cfDNA in the aqueous humor (AH) of retinoblastoma eyes and correlate somatic chromosomal copy-number alterations (SCNA) with clinical outc…
View article: Data from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma
Data from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma Open
Tumor-derived cell-free DNA (cfDNA) has biomarker potential; therefore, this study aimed to identify cfDNA in the aqueous humor (AH) of retinoblastoma eyes and correlate somatic chromosomal copy-number alterations (SCNA) with clinical outc…
View article: Supplemental Figure 1 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma
Supplemental Figure 1 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma Open
Supplemental Figure 1, online only: a positive correlation was seen between the age at diagnosis and genomic instability which is defined as the overall size of the copy number variation found in the initial AH samples (p=<0.0001, R2=0.658…
View article: Supplemental Figure 5 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma
Supplemental Figure 5 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma Open
Supplemental Figure 5, online only: Copy Number Alteration (CNA) profiles from Case 11, 21, and 25 demonstrating change in amplitude of the alterations in longitudinal AH samples taken over time. Case 11 showed a progressive gain of 6p and…
View article: Supplemental Figure 5 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma
Supplemental Figure 5 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma Open
Supplemental Figure 5, online only: Copy Number Alteration (CNA) profiles from Case 11, 21, and 25 demonstrating change in amplitude of the alterations in longitudinal AH samples taken over time. Case 11 showed a progressive gain of 6p and…
View article: Supplemental Figure 3 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma
Supplemental Figure 3 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma Open
Supplemental Figure 3, online only: Initial Copy Number Alteration (CNA) profile from eyes that required enucleation + indicates that in Case 11 the second AH sample (which had good alignment and demonstrates gain of 6p) is shown instead o…
View article: Supplemental Figure 2 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma
Supplemental Figure 2 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma Open
Supplemental Figure 2, online only: Hierarchical clustering matrix based on the genomic instability of the Copy Number Alteration (CNA) profiles of all the AH samples included in this analysis. Samples are listed by Case number_# based on …
View article: Supplemental Figure 3 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma
Supplemental Figure 3 from Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma Open
Supplemental Figure 3, online only: Initial Copy Number Alteration (CNA) profile from eyes that required enucleation + indicates that in Case 11 the second AH sample (which had good alignment and demonstrates gain of 6p) is shown instead o…
View article: Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features
Identification and characterization of early human photoreceptor states and cell-state-specific retinoblastoma-related features Open
Human cone photoreceptors differ from rods and serve as the retinoblastoma cell-of-origin, yet the developmental basis for their distinct behaviors is poorly understood. Here, we used deep full-length single-cell RNA-sequencing (scRNA-seq)…
View article: <scp>Non‐synonymous</scp> , synonymous, and <scp>non‐coding</scp> nucleotide variants contribute to recurrently altered biological processes during retinoblastoma progression
<span>Non‐synonymous</span> , synonymous, and <span>non‐coding</span> nucleotide variants contribute to recurrently altered biological processes during retinoblastoma progression Open
Retinoblastomas form in response to biallelic RB1 mutations or MYCN amplification and progress to more aggressive and therapy‐resistant phenotypes through accumulation of secondary genomic changes. Progression‐related changes include recur…
View article: Non-Synonymous, Synonymous, and Non-Coding Nucleotide Variants Contribute to Recurrently Altered Biological Processes During Retinoblastoma Progression
Non-Synonymous, Synonymous, and Non-Coding Nucleotide Variants Contribute to Recurrently Altered Biological Processes During Retinoblastoma Progression Open
Retinoblastomas form in response to biallelic RB1 mutations or MYCN amplification and progress to more aggressive and therapy-resistant phenotypes through accumulation of secondary genomic changes. Progression-related changes include recur…
View article: Characterizing DNA methylation signatures of retinoblastoma using aqueous humor liquid biopsy
Characterizing DNA methylation signatures of retinoblastoma using aqueous humor liquid biopsy Open
Retinoblastoma (RB) is a cancer that forms in the developing retina of babies and toddlers. The goal of therapy is to cure the tumor, save the eye and maximize vision. However, it is difficult to predict which eyes are likely to respond to…
View article: Extracellular vesicle-associated repetitive element DNAs as candidate osteosarcoma biomarkers
Extracellular vesicle-associated repetitive element DNAs as candidate osteosarcoma biomarkers Open
View article: Detection of mitochondrial DNA variants at low level heteroplasmy in pediatric CNS and extra-CNS solid tumors with three different enrichment methods
Detection of mitochondrial DNA variants at low level heteroplasmy in pediatric CNS and extra-CNS solid tumors with three different enrichment methods Open
View article: Normal retinal ganglion cell (RGC) production and candidate disease associated genes identified in optic nerve hypoplasia (ONH)
Normal retinal ganglion cell (RGC) production and candidate disease associated genes identified in optic nerve hypoplasia (ONH) Open