Accès ouvert
2025
article
OpenAlex
Andrea M. Gross, Olivia H. Reid, Lauren Ashley Baldwin, Ashley D. Cannon et autres
Importance: Cutaneous neurofibromas (cNFs) can cause itching, disfigurement, pain, and emotional difficulties in people with neurofibromatosis type 1 (NF1). Objective: To determine the impact of the mitogen-activated protein kinase kinase inhibitor selumetinib on cNF including change in tumor volume and patient-reported outcome …
us
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Accès ouvert
2025
article
OpenAlex
Andrea M. Gross, Geraldine O’Sullivan Coyne, Eva Dombi, Cecilia Tibery et autres
us
(code pays fourni par la source)
Accès ouvert
2024
other
OpenAlex
R. Taylor Sundby, Jeffrey J. Szymanski, Alexander C. Pan, Paul A. Jones et autres
AbstractPurpose: Early detection of neurofibromatosis type 1 (NF1)–associated peripheral nerve sheath tumors (PNST) informs clinical decision-making, enabling early definitive treatment and potentially averting deadly outcomes. In this study, we describe a cell-free DNA (cfDNA) fragmentomic approach that distinguishes nonmalignant, premalignant, and malignant …
Accès ouvert
2024
supplementary-materials
OpenAlex
R. Taylor Sundby, Jeffrey J. Szymanski, Alexander C. Pan, Paul A. Jones et autres
Supplemental Figure 3. Number of NMF components versus AUC. Performance (AUC) of NMF models in OVO comparisons is plotted against the number n components (Methods) used. The number of components approaches the AUC’s asymptote in each OVO at or before 20 components. …
Accès ouvert
2024
supplementary-materials
OpenAlex
R. Taylor Sundby, Jeffrey J. Szymanski, Alexander C. Pan, Paul A. Jones et autres
Supplemental Figure 4. 4-mer end motifs across F-profiles. Comprehensive view of the distribution and prevalence of each possible 4-mer end motif within each of the six distinct F-profiles derived from non-negative matrix factorization (NMF) (Methods). The analysis highlights distinct end motif compositions …
Accès ouvert
2024
supplementary-materials
OpenAlex
R. Taylor Sundby, Jeffrey J. Szymanski, Alexander C. Pan, Paul A. Jones et autres
Supplemental Figure 2. Diminishing improvements in accuracy with deeper sequencing. MPNST samples sequenced to ∼25x were downsampled in five iterations per goal coverage (Methods). Size selected, copy number derived tumor fraction variability was noted between iterations less than or equal to 3x …
Accès ouvert
2024
supplementary-materials
OpenAlex
R. Taylor Sundby, Jeffrey J. Szymanski, Alexander C. Pan, Paul A. Jones et autres
Supplemental Figure 1. Attributes of atypical neurofibroma samples. Histologic characteristics and, when available, TSO500 clinical sequencing results for paired tissue corresponding with AN cell-free DNA.
Accès ouvert
2024
supplementary-materials
OpenAlex
R. Taylor Sundby, Jeffrey J. Szymanski, Alexander C. Pan, Paul A. Jones et autres
Supplemental Table 1. Participant characteristics. Supplemental Table 2. MPNST patient characteristics. Supplemental Table 3. Details of all sequencing libraries in this study.
Accès ouvert
2024
article
OpenAlex
R. Taylor Sundby, Jeffrey J. Szymanski, Alexander C. Pan, Paul A. Jones et autres
PURPOSE: Early detection of neurofibromatosis type 1 (NF1)-associated peripheral nerve sheath tumors (PNST) informs clinical decision-making, enabling early definitive treatment and potentially averting deadly outcomes. In this study, we describe a cell-free DNA (cfDNA) fragmentomic approach that distinguishes nonmalignant, premalignant, and malignant …
us
(code pays fourni par la source)
Accès ouvert
2024
preprint
OpenAlex
R. Taylor Sundby, Jeffrey J. Szymanski, Alexander C. Pan, Paul A. Jones et autres
Early detection of neurofibromatosis type 1 (NF1) associated peripheral nerve sheath tumors (PNST) informs clinical decision-making, potentially averting deadly outcomes. Here, we describe a cell-free DNA (cfDNA) fragmentomic approach which distinguishes non-malignant, pre-malignant and malignant forms of NF1 PNST. Using plasma samples …
us
(code pays fourni par la source)
2008
article
OpenAlex
Zeph A. Landau, Olivia H. Reid, I. Yu. Yershov
us
(code pays fourni par la source)
2000
article
OpenAlex
Craig Charles Dobson, Olivia H. Reid, Neil K. Bennett, Stuart W. McDonald
The boundary zone of a seminiferous tubule consists of the basement membrane of the seminiferous epithelium, its myoid cells, and their basal laminae. This study examines the boundary zones of seminiferous tubules in healthy and degenerated testes following long-term, left-sided vasectomy in …
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