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Research

A novel BRD4-NUT fusion in an undifferentiated sinonasal tumor highlights alternative splicing as a contributing oncogenic factor in NUT midline carcinoma

In this study, we report the case of an adolescent NMC patient presenting with severe facial pain, proptosis and visual impairment due to a mass arising from...

Research

The PneuCarriage Project: A Multi-Centre Comparative Study to Identify the Best Serotyping Methods for Examining Pneumococcal Carriage

The PneuCarriage project, a large, international multi-centre study for the identification of the best pneumococcal serotyping methods for carriage studies

Research

GFP-complementation assay to detect functional CPP and protein delivery into living cells.

Efficient cargo uptake is essential for cell-penetrating peptide (CPP) therapeutics, which deliver widely diverse cargoes by exploiting natural cell...

Research

Childhood behavior problems and age at first sexual intercourse: A prospective birth cohort study

Early first sexual intercourse (FSI) is a risk factor for unplanned abstract teenage pregnancy, sexually transmitted infection, and adverse social, emotional...

Research

Novel peptide-based drugs for the treatment of sonic hedgehog-dependent medulloblastoma

Medulloblastoma, the most common pediatric malignant brain tumor, consists of at least four distinct molecular subgroups.

Research

Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort study

Mothers of a child with intellectual disability (ID) have more psychiatric disorders after the birth of their child than other mothers.

Research

Cerebral palsy: Epidemiology

Cerebral palsy (CP) is a lifelong physical disability, resulting from maldevelopment or damage to the developing brain. All children with CP have a disorder of movement and posture, but this is often accompanied by disorders of intellect, sensation, behaviour and epilepsy. Long-standing CP registers and surveillance systems estimate the prevalence of CP as approximately 2 per 1000 live births; however variations are seen over time and in different regions of the world.

Research

Safety and immunogenicity of a primary series and booster dose of the meningococcal serogroup B-factor H binding protein vaccine (MenB-FHbp) in healthy children aged 1–9 years: two phase 2 randomised, controlled, observer-blinded studies

The meningococcal serogroup B-factor H binding protein vaccine (MenB-FHbp) is licensed for use in children aged 10 years or older for protection against invasive serogroup B meningococcal disease. Because young children are at increased risk of invasive meningococcal disease, MenB-FHbp clinical data in this population are needed.

Research

SAMStat 2: quality control for next generation sequencing data

SAMStat is an efficient program to extract quality control metrics from fastq and SAM/BAM files. A distinguishing feature is that it displays sequence composition, base quality composition and mapping error profiles split by mapping quality. This allows users to rapidly identify reasons for poor mapping including the presence of untrimmed adapters or poor sequencing quality at individual read positions.

Research

Quantifying airway remodelling for research or clinical purposes: How should we normalize for airway size?

Citation: Donovan GM, Wang KCW, Elliot JG, James AL, Noble PB. Quantifying airway remodelling for research or clinical purposes: How should we