Presymptomatic testing in myotonic dystrophy: genetic counselling approaches

Scaling robotic surgery: the role, responsibilities and challenges of robotic proctorship in colorectal surgery.

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Scoping reviews and their role in identifying research priorities.

Journal of clinical epidemiology·2025

Development and evaluation of a high-fidelity, multi-disciplinary simulation training course for high-consequence infectious diseases using fluorescence visualization.

The Journal of hospital infection·2024

Outcomes of primary total hip arthroplasty in patients with Ehlers Danlos Syndromes.

Acta orthopaedica Belgica·2024

Gender challenges within the UK Defence Medical Services: recruiting and retaining a diverse workforce.

BMJ military health·2024

Assessing knowledge gaps and empowering Extension workers in Illinois with information on ticks and tickborne diseases through KAP surveys.

Heliyon·2024

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Journal of medical genetics·2026

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Journal of medical genetics·2026

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Journal of medical genetics·2026

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.

Scientific reports·2026

Genetic architecture and inheritance patterns of Leber hereditary optic neuropathy among 419 Chinese pedigrees carrying the ND4 11778G>A mutation.

Journal of genetics and genomics = Yi chuan xue bao·2026

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Clinica chimica acta; international journal of clinical chemistry·2026

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

Brain & development·2026

High-Resolution Physical Mapping and Chromosomal Transmission in Sugarcane Progeny.

The Journal of heredity·2026

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Pediatrics international : official journal of the Japan Pediatric Society·2026

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Presymptomatic testing in myotonic dystrophy: genetic counselling approaches

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Scaling robotic surgery: the role, responsibilities and challenges of robotic proctorship in colorectal surgery.

Scoping reviews and their role in identifying research priorities.

Development and evaluation of a high-fidelity, multi-disciplinary simulation training course for high-consequence infectious diseases using fluorescence visualization.

Outcomes of primary total hip arthroplasty in patients with Ehlers Danlos Syndromes.

Gender challenges within the UK Defence Medical Services: recruiting and retaining a diverse workforce.

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Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

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Genetic architecture and inheritance patterns of Leber hereditary optic neuropathy among 419 Chinese pedigrees carrying the ND4 11778G>A mutation.

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

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Presymptomatic testing in myotonic dystrophy: genetic counselling approaches

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