Jon Kemppainen
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View article: P804: Verification of a software and amplification-based nanopore sequencing solution to characterize complex variants in 11 challenging, high-frequency carrier genes*
P804: Verification of a software and amplification-based nanopore sequencing solution to characterize complex variants in 11 challenging, high-frequency carrier genes* Open
View article: P620: A PCR/nanopore assay for accurate variant detection in hard-to-decipher carrier screening genes with automated analysis software
P620: A PCR/nanopore assay for accurate variant detection in hard-to-decipher carrier screening genes with automated analysis software Open
Carrier screening identifies couples at risk for having a child with a severe genetic disorder. Although NGS is a widely used method for carrier screening, it fails to resolve many problematic genes recommended in professional practice gui…
View article: Supplementary Tables 1 - 5 from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts
Supplementary Tables 1 - 5 from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts Open
XLS file, 48K, Supplemental Figure 1: (A) Laser microdissection in an IPMN (hematoxylin and eosin; original magnification: 10x); (B) After precise marking and microdissection the neoplastic epithelium is catapulted into a sterile tube for …
View article: Supplementary Tables 1 - 5 from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts
Supplementary Tables 1 - 5 from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts Open
XLS file, 48K, Supplemental Figure 1: (A) Laser microdissection in an IPMN (hematoxylin and eosin; original magnification: 10x); (B) After precise marking and microdissection the neoplastic epithelium is catapulted into a sterile tube for …
View article: Supplementary Methods from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts
Supplementary Methods from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts Open
PDF file, 161K.
View article: Supplementary Figures 1 - 8 from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts
Supplementary Figures 1 - 8 from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts Open
PDF file, 917K, Supplemental Figure 1: (A) Laser microdissection in an IPMN (hematoxylin and eosin; original magnification: 10x); (B) After precise marking and microdissection the neoplastic epithelium is catapulted into a sterile tube for…
View article: Supplementary Methods from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts
Supplementary Methods from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts Open
PDF file, 161K.
View article: Data from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts
Data from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts Open
Purpose: The diagnosis of pancreatic cystic lesions has increased dramatically. Most are benign, whereas some, such as intraductal papillary mucinous neoplasms (IPMN), represent precursors of pancreatic adenocarcinoma. Therapeutic s…
View article: Supplementary Figures 1 - 8 from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts
Supplementary Figures 1 - 8 from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts Open
PDF file, 917K, Supplemental Figure 1: (A) Laser microdissection in an IPMN (hematoxylin and eosin; original magnification: 10x); (B) After precise marking and microdissection the neoplastic epithelium is catapulted into a sterile tube for…
View article: CCR Translation for This Article from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts
CCR Translation for This Article from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts Open
CCR Translation for This Article from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts
View article: Data from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts
Data from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts Open
Purpose: The diagnosis of pancreatic cystic lesions has increased dramatically. Most are benign, whereas some, such as intraductal papillary mucinous neoplasms (IPMN), represent precursors of pancreatic adenocarcinoma. Therapeutic s…
View article: CCR Translation for This Article from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts
CCR Translation for This Article from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts Open
CCR Translation for This Article from miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts
View article: P455: Long-range PCR and nanopore sequencing method resolves F8, GBA, CYP21A2, SMN1, and TNXB variants using a single streamlined workflow
P455: Long-range PCR and nanopore sequencing method resolves F8, GBA, CYP21A2, SMN1, and TNXB variants using a single streamlined workflow Open
There are many "dark" or "camouflaged" regions of the genome that are critically important to assessing risk in population carrier screening (CS). Six of the top ten carrier screening disorders by reproductive risk to couples can be diffic…
View article: A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments
A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments Open
Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene, which encodes a protein with a critical role in synaptic plasticity. The molecular abnormality underlying FMR1 silencing, CGG repeat expansion, is well characterized; howeve…
View article: Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System
Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System Open
View article: Comprehensive genotyping of the <i>C9orf72</i> hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay
Comprehensive genotyping of the <i>C9orf72</i> hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay Open
This study and PCR method may improve and standardize molecular characterization of the C9orf72 locus, and have the potential to inform phenotype-genotype correlations and therapeutic development in ALS/FTD.
View article: Comprehensive genotyping of the <i>C9orf72</i> hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay
Comprehensive genotyping of the <i>C9orf72</i> hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay Open
Objective: Expansion of the G4C2 repeat tract in the C9orf72 gene is linked to frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Here, we provide comprehensive genotyping of the C…
View article: [P1–270]: A STREAMLINED PCR‐BASED FRAGMENT ANALYSIS ASSAY THAT RESOLVES BOTH SINGLE NUCLEOTIDE AND POLY‐T LENGTH POLYMORPHISMS AT APOE AND TOMM40 SUSCEPTIBILITY LOCI IN ALZHEIMER's DISEASE
[P1–270]: A STREAMLINED PCR‐BASED FRAGMENT ANALYSIS ASSAY THAT RESOLVES BOTH SINGLE NUCLEOTIDE AND POLY‐T LENGTH POLYMORPHISMS AT APOE AND TOMM40 SUSCEPTIBILITY LOCI IN ALZHEIMER's DISEASE Open
Alzheimer's disease (AD) is an irreversible neurodegenerative disorder that progresses slowly over time. Previous studies have identified an AD susceptibility locus in a region that includes APOE and TOMM40. Of the three common APOE allele…