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Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions
The cIMPACT-NOW Update 7 has replaced the WHO nosology of “ependymoma, RELA fusion positive” by “Supratentorial-ependymoma, C11orf95 -fusion...
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Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism
Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These...
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Emergence of a clinical Salmonella enterica serovar 1,4,[5], 12: i:-isolate, ST3606, in China with susceptibility decrease to ceftazidime-avibactam carrying a novel blaCTX-M-261 variant and a blaNDM-5
PurposeThe detection rate of Salmonella enterica serovar 1,4,[5], 12: i: - (S. 1,4,[5], 12: i: -) has increased as the most common serotype...
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Phenotypic and genotypic characterization of linezolid resistance and the effect of antibiotic combinations on methicillin-resistant Staphylococcus aureus clinical isolates
BackgroundMethicillin-Resistant Staphylococcus aureus (MRSA) causes life-threatening infections, with narrow therapeutic options including:...
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Genomic architecture of FGFR2 fusions in cholangiocarcinoma and its implication for molecular testing
BackgroundCholangiocarcinoma (CCA) is a primary malignancy of the biliary tract with a dismal prognosis. Recently, several actionable genetic...
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Asciminib: first FDA approved allosteric inhibitor of BCR-ABL1 for the treatment of chronic myeloid leukemia
AbstractChronic myelogenous leukemia (CML), a type of cancer of the white blood cells, arises due to the constitutive activity of the BCR-ABL1...
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Developmental origins shape the paediatric cancer genome
In the past two decades, technological advances have brought unprecedented insights into the paediatric cancer genome revealing characteristics...
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A novel SMARCA2-CREM fusion: expanding the molecular spectrum of intracranial mesenchymal tumors beyond the FET genes
A novel histomolecular tumor of the central nervous system, the “intracranial mesenchymal tumor (IMT), FET-CREB fusion-positive” has recently been...
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Molecular map of chronic lymphocytic leukemia and its impact on outcome
Recent advances in cancer characterization have consistently revealed marked heterogeneity, impeding the completion of integrated molecular and...
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Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline
Pathogenic large inversions are rarely reported on DMD gene due to the lack of effective detection methods. Here we report two DMD pedigrees and...
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A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract
Inherited paediatric cataract is a rare Mendelian disease that results in visual impairment or blindness due to a clouding of the eye’s crystalline...
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Single-nucleus genomics in outbred rats with divergent cocaine addiction-like behaviors reveals changes in amygdala GABAergic inhibition
The amygdala processes positive and negative valence and contributes to addiction, but the cell-type-specific gene regulatory programs involved are...
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Genetic Analysis of Human Adenovirus Type 7 Strains Circulating in Different Parts of China
To investigate the molecular epidemiology and genetic variation of human adenovirus type 7 (HAdV-7) in children with acute respiratory infections...
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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
BackgroundStudies have shown that complex structural variants (cxSVs) contribute to human genomic variation and can cause Mendelian disease. We aimed...
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Prader-Willi Syndrome
Since the first report of nine similarly affected individuals by Prader and colleagues in 1956, a wealth of information has accumulated regarding the...
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Prader-Willi Syndrome
Since the first report of nine similarly affected individuals by Prader and colleagues in 1956, a wealth of information has accumulated regarding the...
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Recurrent integration of human papillomavirus genomes at transcriptional regulatory hubs
Oncogenic human papillomavirus (HPV) genomes are often integrated into host chromosomes in HPV-associated cancers. HPV genomes are integrated either...
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Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness
BackgroundFamilial breast cancer is in most cases unexplained due to the lack of identifiable pathogenic variants in the BRCA1 and BRCA2 genes. The...
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Mobile element variation contributes to population-specific genome diversification, gene regulation and disease risk
Mobile genetic elements (MEs) are heritable mutagens that recursively generate structural variants (SVs). ME variants (MEVs) are difficult to...
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Copy Number Variation Analysis from SNP Genoty** Microarrays in Large Cohorts of Neurological Disorders
Copy number variants (CNVs) are a major source of genetic variation in the human genome, and they are highly heterogeneous in type, size, and...