jmg.bmj

Clinical manifestations of chromosome 19p13.11 duplication

Background Chromosome 19 is the most gene-dense chromosome in the human genome, with a high frequency of segmental duplications that predispose it to genomic rearrangements. While deletions of ...
jmg.bmj

How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC)

Background Parent/patient-reported (PRD) datasets provide ready access to phenotypic data for monogenic neurodevelopmental disorders, yet their concordance with clinical data is unclear. Methods In ...
jmg.bmj

The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2

Background Our study aimed to establish ‘real-world’ performance and cost-effectiveness of ovarian cancer (OC) surveillance in women with pathogenic germline BRCA1/2 variants who defer risk-reducing ...
jmg.bmj

Angelman syndrome: a review of the clinical and genetic aspects

Angelman syndrome ( AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a ...
jmg.bmj

Online First

How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC) ...
jmg.bmj

Rare variants in XRCC2 as breast cancer susceptibility alleles

1 Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands 2 Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands 3 Department of ...
jmg.bmj

Neurofibromatous neuropathy in neurofibromatosis 1 (NF1)

1 Department of Clinical Neurosciences, Guy’s, Kings and St. Thomas’ School of Medicine, London, UK 2 Centre for Neuroscience Research, Guy’s, Kings and St. Thomas’ School of Biomedical Sciences, ...
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Phenotypic variability among patients with hyperornithinaemia–hyperammonaemia–homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15

Division of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, University of Sherbrooke, Sherbrooke, Quebec, Canada Objective: To further delineate the phenotypic spectrum of ...
jmg.bmj

Association for Clinical Genomic Science (ACGS) guidelines for the classification of oncogenicity of somatic variants in cancer: recommendations by the UK somatic variant ...

Comprehensive genomic testing in routine cancer care pathways has created the need to interpret the consequences of somatic (acquired) genomic variants beyond the currently well-characterised driver ...
jmg.bmj

Challenges associated with disclosing results from whole genome sequencing to diagnose paediatric rare diseases: analysis of parent–clinician interactions

Background Whole genome sequencing (WGS) has recently been introduced as a diagnostic test for patients with particular rare diseases in the National Health Service (NHS) in England. Little is known ...
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Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR

Background Familial exudative vitreoretinopathy (FEVR) is an inherited eye disease characterised by the incomplete development of the retinal vasculature. Over 10 genes have been associated with FEVR, ...
jmg.bmj

A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome

Background Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon ...