- Dual impact of uniparental disomy in imprinting and recessive disorders: a case of UPD(15) with unexpected inheritance and literature review. [Journal Article]J Med Genet. 2026 Oct 14. [Online ahead of print]JM
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- Deletion size and background genetic variation shape congenital heart disease phenotypes in 3016 individuals with 22q11.2 deletion syndrome. [Journal Article]J Med Genet. 2026 Oct 14. [Online ahead of print]JM
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- UK consensus recommendations for onward testing for Lynch syndrome in patients with deficient mismatch repair (dMMR) non-colorectal/non-endometrial cancers. [Journal Article]J Med Genet. 2026 Oct 14. [Online ahead of print]JM
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- Refinement of the UKCGG/CanVIG framework for triage of putative germline variants identified via tumour and ctDNA sequencing: maximising clinical utility and harmonising gene and variant-restricted reporting across UK clinical practice. [Journal Article]J Med Genet. 2026 Oct 14. [Online ahead of print]JM
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- Clinicopathological, imaging and genetic spectrum of inherited rimmed vacuolar myopathies in a Chinese cohort. [Journal Article]J Med Genet. 2026 Oct 12. [Online ahead of print]JM
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- Integrating deep-exome sequencing and droplet digital PCR for genetic diagnosis of 142 patients with somatic overgrowth and vascular malformation. [Journal Article]J Med Genet. 2026 Oct 12. [Online ahead of print]JM
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- Recurrent helical COL1A1 E678K variant in three families with an EDS-predominant phenotype expanding the clinical and molecular spectrum of COL1-related overlap disorder. [Journal Article]J Med Genet. 2026 Oct 12. [Online ahead of print]JM
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- Somatic panel testing reveals no common alternative oncogenic driver in BRCA1/2-mutant high-grade serous ovarian cancer with discordant low genomic instability score. [Journal Article]J Med Genet. 2026 Oct 08. [Online ahead of print]JM
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- Alternative causative variants explain phenotypic severity in historical reports of NF2 missense variant carriers. [Journal Article]J Med Genet. 2026 Sep 30. [Online ahead of print]JM
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- Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing. [Journal Article]J Med Genet. 2026 Sep 21. [Online ahead of print]JM
- CONCLUSIONS: Across Ontario, centres were generally consistent in mainstreaming the most common indications. Opportunities to improve quality and equity include reducing variability in routine turnaround time, standardising management pathways for negative results and streamlining ordering to align with eligibility criteria. Some centres cited limited genetics knowledge as an implementation barrier, though engagement improved over time. Ongoing evaluation of mainstreaming can support consistent access to care.
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- Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis. [Journal Article]J Med Genet. 2026 Sep 21. [Online ahead of print]JM
- CONCLUSIONS: About 60% of PTGs were reported from North America. The majority of the lesions were classified as pT1a. PTG indication has been progressively and constantly decreasing during the last years considered. This can be related to the recent genetic analyses reporting a lower DGC risk in CDH1 carriers and with the improvement in detection of early lesions during endoscopy.
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- Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials. [Journal Article]J Med Genet. 2026 Sep 16. [Online ahead of print]JM
- CONCLUSIONS: AAV-based gene therapies provide modest functional benefits in ambulatory boys with DMD, particularly at younger ages, but carry important safety risks. Larger trials with longer follow-up are needed to clarify long-term efficacy and optimise risk-benefit profiles.
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- Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study. [Journal Article]J Med Genet. 2026 Sep 09. [Online ahead of print]JM
- CONCLUSIONS: We identified 87 different PTEN variants, and application of PTEN gene-specific ACMG guidelines led to reclassification of 32 variants (36.8%), underscoring the importance of regular variant reassessment using the most recent gene-specific guidelines, ensuring optimal patient management and surveillance.
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- Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature. [Journal Article]J Med Genet. 2026 Sep 28. [Online ahead of print]JM
- CONCLUSIONS: Solid tumour risk in RASopathies is syndrome-dependent and genotype-dependent, with CS showing a high burden of bladder tumours and NS mainly associated with CNS tumours. These findings may support tailored surveillance strategies.
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- Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score. [Journal Article]J Med Genet. 2026 Sep 04. [Online ahead of print]JM
- CONCLUSIONS: We report novel HCM loci. A new PRS predicted the risk of HCM development and associated imaging characteristics in the UKBB and outcomes in an HCM cohort.
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