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Article
Open AccessStudy protocol for a pragmatic randomised controlled trial of comparing enhanced acceptance and commitment therapy plus (+) added to usual aftercare versus usual aftercare only, in patients living with or beyond cancer: SUrvivors’ Rehabilitation Evaluation after CANcer (SURECAN) trial
Two million people in the UK are living with or beyond cancer and a third of them report poor quality of life (QoL) due to problems such as fatigue, fear of cancer recurrence, and concerns about returning to w...
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Article
Open AccessSNVstory: inferring genetic ancestry from genome sequencing data
Genetic ancestry, inferred from genomic data, is a quantifiable biological parameter. While much of the human genome is identical across populations, it is estimated that as much as 0.4% of the genome can diff...
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Article
Open AccessFull-length isoform concatenation sequencing to resolve cancer transcriptome complexity
Cancers exhibit complex transcriptomes with aberrant splicing that induces isoform-level differential expression compared to non-diseased tissues. Transcriptomic profiling using short-read sequencing has utili...
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Article
Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis
Pathogenic GATA6 variants have been associated with congenital heart disease (CHD) and a spectrum of extracardiac abnormalities, including pancreatic agenesis, congenital diaphragmatic hernia, and developmental d...
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Article
The post-diagnostics world: charting a path for pediatric genomic medicine in the twenty-first century
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Applying Zero Trust Architecture and Probability-Based Authentication to Preserve Security and Privacy of Data in the Cloud
With the convenience of Cloud computing (CC) comes changes and challenges to cybersecurity. Organisational networks have changed, and the traditional perimeter-style defence is ineffective in CC architecture. ...
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Article
Open AccessClinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas
Primary spinal cord tumors contribute to ≤ 10% of central nervous system tumors in individuals of pediatric or adolescent age. Among intramedullary tumors, spinal ependymomas make up ~ 30% of this rare tumor p...
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Article
Open AccessDiscovery of clinically relevant fusions in pediatric cancer
Pediatric cancers typically have a distinct genomic landscape when compared to adult cancers and frequently carry somatic gene fusion events that alter gene expression and drive tumorigenesis. Sensitive and sp...
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Article
Open AccessMeasuring quality of life in people living with and beyond cancer in the UK
The aim of this study was to identify the most appropriate measure of quality of life (QoL) for patients living with and beyond cancer.
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Article
Open AccessMolecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma
Retinoblastoma is a childhood cancer of the retina involving germline or somatic alterations of the RB Transcriptional Corepressor 1 gene, RB1. Rare cases of sellar-suprasellar region retinoblastoma without evide...
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Article
Open AccessEmpirical studies of factors associated with child malnutrition: highlighting the evidence about climate and conflict shocks
Children who experience poor nutrition during the first 1000 days of life are more vulnerable to illness and death in the near term, as well as to lower work capacity and productivity as adults. These problems...
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Article
Prediction of short-term neonatal complications in preterm infants using exome-wide genetic variation and gestational age: a pilot study
Preterm birth is the leading cause of mortality and morbidity in young children, with over a million deaths per year worldwide arising from neonatal complications (NCs). NCs are moderately heritable although t...
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Article
Open AccessAuthor Correction: Baseline and Disease-Induced Transcriptional Profiles in Children with Sickle Cell Disease
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessBaseline and Disease-Induced Transcriptional Profiles in Children with Sickle Cell Disease
Acute chest syndrome (ACS) is a significant cause of morbidity and mortality in sickle cell disease (SCD), but preventive, diagnostic, and therapeutic options are limited. Further, ACS and acute vasoccclusive ...
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Article
Open AccessPublisher Correction: Whole Transcriptome Analysis of Renal Intercalated Cells Predicts Lipopolysaccharide Mediated Inhibition of Retinoid X Receptor alpha Function
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessReprioritization of biofilm metabolism is associated with nutrient adaptation and long-term survival of Haemophilus influenzae
Nontypeable Haemophilus influenzae (NTHI) is a human-restricted pathogen with an essential requirement for heme–iron acquisition. We previously demonstrated that microevolution of NTHI promotes stationary phase s...
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Article
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We repor...
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Open AccessWhole Transcriptome Analysis of Renal Intercalated Cells Predicts Lipopolysaccharide Mediated Inhibition of Retinoid X Receptor alpha Function
The renal collecting duct consists of intercalated cells (ICs) and principal cells (PCs). We have previously demonstrated that collecting ducts have a role in the innate immune defense of the kidney. Transcrip...
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Article
Open AccessHuman CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism
Autism spectrum disorders (ASD) are more common among boys than girls. The mechanisms responsible for ASD symptoms and their sex differences remain mostly unclear. We previously identified collapsin response m...
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Article
Open AccessA patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia
We report a female patient with endocrine abnormalities, hypogonadotropic hypogonadism and amazia (breasts aplasia/hypoplasia but normal nipples and areolas) in a rare syndrome: Van Maldergem syndrome (VMS).
