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Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing methods remains crucial to provide an accurate diagnosis. In ...
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Article
Open AccessA comprehensive analysis of minimally differentially methylated regions common to pediatric and adult solid tumors
Cancer is the second most common cause of death in children aged 1–14 years in the United States, with 11,000 new cases and 1200 deaths annually. Pediatric cancers typically have lower mutational burden compar...
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Article
Open AccessGenetic landscape of interval and screen detected breast cancer
Interval breast cancers (IBCs) are cancers diagnosed between screening episodes. Understanding the biological differences between IBCs and screen-detected breast-cancers (SDBCs) has the potential to improve ma...
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Article
Open AccessDNA and RNA base editors can correct the majority of pathogenic single nucleotide variants
The majority of human genetic diseases are caused by single nucleotide variants (SNVs) in the genome sequence. Excitingly, new genomic techniques known as base editing have opened efficient pathways to correct...
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Article
Open AccessALK fusions in the pan-cancer setting: another tumor-agnostic target?
Anaplastic lymphoma kinase (ALK) alterations (activating mutations, amplifications, and fusions/rearrangements) occur in ~3.3% of cancers. ALK fusions/rearrangements are discerned in >50% of inflammatory myofibro...
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Article
Open AccessOptimizing cancer immunotherapy response prediction by tumor aneuploidy score and fraction of copy number alterations
Identifying patients that are likely to respond to cancer immunotherapy is an important, yet highly challenging clinical need. Using 3139 patients across 17 different cancer types, we comprehensively studied t...
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Article
Open AccessDownregulation of KEAP1 in melanoma promotes resistance to immune checkpoint blockade
Immune checkpoint blockade (ICB) has demonstrated efficacy in patients with melanoma, but many exhibit poor responses. Using single cell RNA sequencing of melanoma patient-derived circulating tumor cells (CTCs...
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Article
A critical ETV4/Twist1/Vimentin axis in Ha-RAS-induced aggressive breast cancer
RAS oncogenes are major drivers of diverse types of cancer. However, they are largely not druggable, and therefore targeting critical downstream pathways and dependencies is an attractive approach. We have iso...
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Article
Open AccessInduction immune-checkpoint inhibitors for resectable oncogene-mutant NSCLC: A multicenter pooled analysis
Despite limited efficacy of immunotherapy for advanced non-small-cell lung cancer (NSCLC) with driver mutations, whether neoadjuvant immunotherapy could be clinically valuable in those patients warrants furthe...
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Open AccessPublisher Correction: DNA-based copy number analysis confirms genomic evolution of PDX models
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Open AccessNucleosome footprinting in plasma cell-free DNA for the pre-surgical diagnosis of ovarian cancer
Fragmentation patterns of plasma cell-free DNA (cfDNA) are known to reflect nucleosome positions of cell types contributing to cfDNA. Based on cfDNA fragmentation patterns, the deviation in nucleosome footprin...
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Article
Open AccessDNA-based copy number analysis confirms genomic evolution of PDX models
Genomic evolution of patient-derived xenografts (PDXs) may lead to their gradual divergence away of their tumors of origin. We previously reported the genomic evolution of the copy number (CN) landscapes of PD...
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CRISPR-Cas-Based Gene Therapy to Target Viral Infections
In recent years, there is an increasing demand for the development of new antiviral strategies due to the prevalence of viral infections such as those caused by the human immunodeficiency (HIV) or the hepatiti...
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Article
Open AccessWhole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases
Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30–40% of cases remain geneticall...
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Article
Open AccessGene therapy for spinal muscular atrophy: the Qatari experience
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by hypotonia, progressive muscle weakness, and wasting. Onasemnogene abeparvovec (Zolgensma®) is a novel gene therapy m...
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Open AccessBroadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inher...
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Open AccessMultiomics characteristics of neurogenesis-related gene are dysregulated in tumor immune microenvironment
The success of immunotherapy was overshadowed by its low response rate, and the hot or cold tumor microenvironment was reported to be responsible for it. However, due to the lack of an appropriate method, it i...
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Article
Adenovirus vector-mediated YKL-40 shRNA attenuates eosinophil airway inflammation in a murine asthmatic model
Recent studies have revealed that YKL-40 is involved in the pathogenesis of asthma. However, its specific mechanism remains unclear. The present study aims to investigate the effect of adenovirus vector-mediat...
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Correction to: Application of iPSC to Modelling of Respiratory Diseases
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Application of iPSC to Modelling of Respiratory Diseases
Respiratory disease is one of the leading causes of morbidity and mortality world-wide with an increasing incidence as the aged population prevails. Many lung diseases are treated for symptomatic relief, with ...