Jason R. McFadden
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View article: Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features Open
DDX41 (DEAD‑box helicase 41) is a member of the largest family of RNA helicases. The DEAD-box RNA helicases share a highly conserved core structure and regulate all aspects of RNA metabolism. The functional role of DDX41 in innate immunity…
View article: A Droplet Digital Polymerase Chain Reaction–Based Tool to Aid in Melanoma Diagnosis: Development of a 4-Gene Panel Using 164 Melanocytic Neoplasms
A Droplet Digital Polymerase Chain Reaction–Based Tool to Aid in Melanoma Diagnosis: Development of a 4-Gene Panel Using 164 Melanocytic Neoplasms Open
Context.— Detecting copy number variations (CNVs) at certain loci can aid in the diagnosis of histologically ambiguous melanocytic neoplasms. Droplet digital polymerase chain reaction (ddPCR) is a rapid, automated, and inexpensive method f…
View article: Peripheral T‐cell lymphomas expressing <scp>CD30</scp> and <scp>CD15</scp> expand the spectrum of anaplastic large cell lymphoma, <scp>ALK</scp>‐negative
Peripheral T‐cell lymphomas expressing <span>CD30</span> and <span>CD15</span> expand the spectrum of anaplastic large cell lymphoma, <span>ALK</span>‐negative Open
Summary Peripheral T‐cell lymphomas (PTCL) are morphologically and biologically heterogeneous and a subset expresses CD30, including anaplastic large cell lymphomas (ALCL) and a minority of PTCL, not otherwise specified (PTCL, NOS). ALCL w…
View article: A novel method to assess copy number variations in melanocytic neoplasms: Droplet digital PCR for precise quantitation of <i>MYC</i> and <i>MYB</i> genes
A novel method to assess copy number variations in melanocytic neoplasms: Droplet digital PCR for precise quantitation of <i>MYC</i> and <i>MYB</i> genes Open
Introduction While most melanocytic neoplasms can be classified as either benign or malignant by histopathology alone, ancillary molecular diagnostic tests can be necessary to establish the correct diagnosis in challenging cases. Currently…
View article: Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy
Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy Open
Microtubules are cytoskeletal polymers of ⍺/β-tubulin heterodimers essential for a wide range of cellular processes. Pathogenic variations in microtubule-encoding genes (e.g., TUBB4B, which encodes the β-4B tubulin isotype) are resp…
View article: A Novel Method to Detect Copy Number Variation in Melanoma: Droplet Digital PCR for Quantitation of the CDKN2A Gene, a Proof-of-Concept Study
A Novel Method to Detect Copy Number Variation in Melanoma: Droplet Digital PCR for Quantitation of the CDKN2A Gene, a Proof-of-Concept Study Open
A definitive diagnosis of nevus or melanoma is not always possible for histologically ambiguous melanocytic neoplasms. In such cases, ancillary molecular testing can support a diagnosis of melanoma if certain chromosomal aberrations are de…
View article: A systematic review of deep learning models trained and tested using the HAM10000 dataset: an overview of recent advancements and challenges
A systematic review of deep learning models trained and tested using the HAM10000 dataset: an overview of recent advancements and challenges Open
Objective: Recent advances in sophisticated computer vision techniques have accelerated the development of methods for interpreting dermatological images. While a plethora of studies have been published in the last few yea…
View article: Gain of CCND1 May Occur Too Infrequently in Cutaneous Melanoma, and Too Late in Melanomagenesis, to Be Diagnostically Useful: Genomic Analysis of 88 Cases
Gain of CCND1 May Occur Too Infrequently in Cutaneous Melanoma, and Too Late in Melanomagenesis, to Be Diagnostically Useful: Genomic Analysis of 88 Cases Open
Genomic analysis is an important tool in the diagnosis of histologically ambiguous melanocytic neoplasms. Melanomas, in contrast to nevi, are characterized by the presence of multiple copy number alterations. One such alteration is gain of…
View article: An Underrecognized Histologic Clue to the Diagnosis of Mucous Membrane Pemphigoid: A Case Report and Review of Diagnostic Guidelines
An Underrecognized Histologic Clue to the Diagnosis of Mucous Membrane Pemphigoid: A Case Report and Review of Diagnostic Guidelines Open
Mucous membrane pemphigoid (MMP), also known as cicatricial pemphigoid (CP), is a heterogeneous group of subepidermal blistering diseases that affect the mucous membranes, most frequently in the eye and oral cavity. MMP is often unrecogniz…
View article: Predicting symptom response and engagement in a digital intervention among individuals with schizophrenia and related psychoses
Predicting symptom response and engagement in a digital intervention among individuals with schizophrenia and related psychoses Open
Introduction Despite existing work examining the effectiveness of smartphone digital interventions for schizophrenia at the group level, response to digital treatments is highly variable and requires more research to determine which person…