Wessex Regional Genetics Laboratory

Recent papers from Wessex Regional Genetics Laboratory

1. Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease2026
2. Large phenotypic variability with severe respiratory involvement in MEGF10 -related myopathies: Description of three casesJournal of Neuromuscular Diseases · 2026
3. From Highlands to Henge: Refining the Provenance and Transport Pathways of Stonehenge's Altar StoneJournal of Quaternary Science · 2026
4. Genomic history and selection in Roman and early medieval Britain2026
5. HLA genotype testing for carbamazepine, oxcarbazepine and eslicarbazepine: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)British Journal of Clinical Pharmacology · 2026
6. ACAN -related disorder, antenatal presentation and phenotypic variability: a case seriesJournal of Medical Genetics · 2026
7. Finding the Genetic Diagnosis for a Mother and Daughter With a Novel Phenotype of Hand and Foot Abnormalities and Severe Pectus Excavatum Previously Reported in Am J Med Genet Part A by Low K et al. (2013)American Journal of Medical Genetics Part A · 2026
8. Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney diseaseKidney International · 2026
9. A Case of Familial CDKN1C ‐Related Beckwith‐Wiedemann SyndromePrenatal Diagnosis · 2026
10. Lipid transport is necessary for neocortical lamination2025
11. Evaluating reverse transcriptase efficiency in CML: Consequences for deep molecular response classification and treatment-free remission decisionsBlood · 2025
12. Structural variants dysregulating FOXC2 cause lymphoedema distichiasis syndrome: a series of case reportsBMJ connections. · 2025
13. So much promise, so little delivery: Underuse of biological evidence collected from sexual assault victims treated in an Italian specialised hospital centreForensic Science International Genetics · 2025
14. Multicentre audit reviewing reporting and management of patients with incidentally identified structural aberrations involving high actionability cancer susceptibility genesJournal of Medical Genetics · 2025
15. Duchenne and Becker Muscular Dystrophies in Romania: a 10-year Retrospective StudyEuropean Journal of Paediatric Neurology · 2025
16. Health, social and economic impacts of the UK Treasury Soft Drinks Industry Levy: a synopsis of a systems-thinking informed multi-method evaluationPublic Health Research · 2025
17. Multiple early onset atypical cutaneous fibrous histiocytomas in multilocus inherited neoplasia allele syndrome involving TP53 and FLCN genesJournal of Medical Genetics · 2025
18. HiFi Long-Read RNA Sequencing Enhances Clinical Diagnostics in Rare Disorders2025
19. Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomesJournal of Medical Genetics · 2025
20. Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meetingFamilial Cancer · 2025