Kala F. Schilter
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View article: INNV-56. The use of liquid biopsy in cerebrospinal fluid for early diagnosis of leptomeningeal disease and primary central nervous system malignancy: a single academic institution experience
INNV-56. The use of liquid biopsy in cerebrospinal fluid for early diagnosis of leptomeningeal disease and primary central nervous system malignancy: a single academic institution experience Open
The recent development of a cerebrospinal fluid (CSF) based assay for use in clinical practice has led to improvements in diagnosis of central nervous system (CNS) malignancy, both primary and secondary. This assay has emerged as a new and…
View article: Molecular Analysis of Cerebrospinal Fluid Tumor-Derived DNA to Aid in the Diagnosis and Targeted Treatment of Breast Cancer Brain Metastasis
Molecular Analysis of Cerebrospinal Fluid Tumor-Derived DNA to Aid in the Diagnosis and Targeted Treatment of Breast Cancer Brain Metastasis Open
A woman in her 40s with a history of ER/PR+, HER2-negative breast cancer presented with a seizure three years after mastectomy. Magnetic resonance imaging (MRI) revealed a right caudate head mass, which was concerning for either high-grade…
View article: Demonstrating the clinical utility of genomic profiling using cerebrospinal fluid to inform management of central nervous system tumors – a meta analysis of the literature
Demonstrating the clinical utility of genomic profiling using cerebrospinal fluid to inform management of central nervous system tumors – a meta analysis of the literature Open
View article: Analysis of cerebrospinal fluid tumor-derived DNA to obviate biopsy of IDH-mutant brainstem glioma in an adult
Analysis of cerebrospinal fluid tumor-derived DNA to obviate biopsy of IDH-mutant brainstem glioma in an adult Open
View article: Analytical Validation and Clinical Sensitivity of the Belay Summit Assay for the Detection of DNA Variants in Cerebrospinal Fluid of Primary and Metastatic Central Nervous System Cancer
Analytical Validation and Clinical Sensitivity of the Belay Summit Assay for the Detection of DNA Variants in Cerebrospinal Fluid of Primary and Metastatic Central Nervous System Cancer Open
View article: Analytical validation of the Belay Vantage™ assay for evaluation of MGMT promoter methylation using enzymatically converted tumorDNA from cerebrospinal fluid
Analytical validation of the Belay Vantage™ assay for evaluation of MGMT promoter methylation using enzymatically converted tumorDNA from cerebrospinal fluid Open
MGMT promoter methylation status (hypermethylation) is one of the strongest prognostic and predictive biomarkers in glioblastoma (GBM) and is associated with a more favorable response to alkylating chemotherapies such as Temozolomide (TMZ)…
View article: Evaluating the clinical utility of genomic profiling using cerebrospinal fluid to inform treatment and management of central nervous system tumors – a Meta Analysis of the literature
Evaluating the clinical utility of genomic profiling using cerebrospinal fluid to inform treatment and management of central nervous system tumors – a Meta Analysis of the literature Open
Purpose: Meta-analysis of literature was performed to gain an understanding of the performance of genomic profiling assays in cerebrospinal fluid (CSF) for the diagnosis and management of CNS cancers. Methods: Using PRISMA methodology, Pub…
View article: Choroid plexus metastasis of a renal cell carcinoma—A case report and review of the literature
Choroid plexus metastasis of a renal cell carcinoma—A case report and review of the literature Open
View article: Cerebrospinal Fluid based liquid biopsy to inform diagnosis and management of Leptomeningeal Metastases in EGFR-Mutant Lung Cancer – A Case Report
Cerebrospinal Fluid based liquid biopsy to inform diagnosis and management of Leptomeningeal Metastases in EGFR-Mutant Lung Cancer – A Case Report Open
Leptomeningeal disease (LMD) in advanced non-small cell lung cancer (NSCLC) carries a poor prognosis and is challenging to diagnose without invasive biopsy. Traditional cerebrospinal fluid (CSF) cytology considered the gold standard in dia…
View article: Evaluation of the ASPYRE-Lung targeted variant panel: a rapid, low-input solution for non-small cell lung cancer biomarker testing and experience from three independent sites
Evaluation of the ASPYRE-Lung targeted variant panel: a rapid, low-input solution for non-small cell lung cancer biomarker testing and experience from three independent sites Open
ASPYRE-Lung assay is a cost-effective, easy to adopt testing method requiring no specialized expertise or complicated bioinformatics, with the potential to inform genomic data on small tissue samples, thus enabling all patients with NSCLC …
View article: Reduction in ACE2 expression in peripheral blood mononuclear cells during COVID-19 – implications for post COVID-19 conditions
Reduction in ACE2 expression in peripheral blood mononuclear cells during COVID-19 – implications for post COVID-19 conditions Open
Background Severe COVID-19 is uncommon, restricted to 19% of the total population. In response to the first virus wave (alpha variant of SARS-CoV-2), we investigated whether a biomarker indicated severity of disease and, in particular, if …
View article: ACE2 expression in PBMC and plasma markers of vasculopathy and fibrosis during early COVID – implications for post-COVID conditions
ACE2 expression in PBMC and plasma markers of vasculopathy and fibrosis during early COVID – implications for post-COVID conditions Open
Background : Severe COVID is uncommon, restricted to 19% of the population. In response to the first virus wave (alpha variant of SARS-CoV-2), we investigated whether variable expression of angiotensin converting enzyme 2 (ACE2) in blood m…
View article: Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeqTMKids for molecular profiling of childhood malignancies
Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeqTMKids for molecular profiling of childhood malignancies Open
Next-Generation Sequencing (NGS) allows rapid analysis of multiple genes for the detection of clinically actionable variants. This study reports the analytical validation of a targeted pan cancer NGS panel CANSeq TM Kids for molecular prof…
View article: P411: Customization and implementation of a tertiary analysis platform for interpretation and reporting of germline variants
P411: Customization and implementation of a tertiary analysis platform for interpretation and reporting of germline variants Open
View article: Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants
Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants Open
Precision medicine for oncology requires the evaluation of variants identified in molecular profiling of solid tumors and hematologic malignancies. This includes evaluation of pre-analytical and postanalytical quality metrics, variant inte…
View article: Diffuse Leptomeningeal Histiocytic Sarcoma: Histologic and Molecular Findings in an Autopsy Case
Diffuse Leptomeningeal Histiocytic Sarcoma: Histologic and Molecular Findings in an Autopsy Case Open
View article: Long-term retinal imaging of a case of suspected congenital rubella infection
Long-term retinal imaging of a case of suspected congenital rubella infection Open
This patient appears to have a stable pigmentary retinopathy. This case is likely due to a congenital insult, rather than progressive retinal disease. This finding of stability agrees with other reports of rubella pigmentary retinopathy. I…
View article: Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics
Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics Open
View article: <i>RNF213</i> variants in a child with PHACE syndrome and moyamoya vasculopathy
<i>RNF213</i> variants in a child with PHACE syndrome and moyamoya vasculopathy Open
Segmental infantile hemangiomas (IH) can be associated with congenital anomalies in a regional distribution. PHACE refers to large cervicofacial segmental IH in association with congenital anomalies of the aortic arch and medium‐sized arte…
View article: 8q21.11 microdeletion in two patients with syndromic peters anomaly
8q21.11 microdeletion in two patients with syndromic peters anomaly Open
Peters anomaly is a form of anterior segment dysgenesis characterized by central ocular opacity and corneo‐lenticular adhesions. Isolated and syndromic Peters anomaly can be observed and demonstrate significant genetic heterogeneity. We re…
View article: Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies Open
The genetic basis of congenital glaucoma with systemic anomalies is largely unknown. Whole exome sequencing ( WES ) in 10 probands with congenital glaucoma and variable systemic anomalies identified pathogenic or likely pathogenic variants…
View article: Identification of an Alu‐repeat‐mediated deletion of <i><scp>OPTN</scp></i> upstream region in a patient with a complex ocular phenotype
Identification of an Alu‐repeat‐mediated deletion of <i><span>OPTN</span></i> upstream region in a patient with a complex ocular phenotype Open
Genetic causes of ocular conditions remain largely unknown. To reveal the molecular basis for a congenital ocular phenotype associated with glaucoma we performed whole‐exome sequencing ( WES ) and whole‐genome copy number analyses of patie…