Journal of Medical Genetics

UK consensus recommendations for onward testing for Lynch syndrome in patients with deficient mismatch repair (dMMR) non-colorectal/non-endometrial cancers

Background Tumour testing for microsatellite instability (MSI) or mismatch repair deficiency (dMMR) is used to screen for ...
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Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department

Background The utility of diagnostic genetic testing in cardiomyopathy has grown significantly, due to the discovery of novel genes and greater awareness among healthcare professionals. However, a ...
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Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED ...
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A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

10 School of Molecular and Biomedical Science, The University of Adelaide, Adelaide, Australia 11 Robinson Research Institute, The University of Adelaide, Adelaide, Australia Correspondence to Dr ...
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The Smith-Lemli-Opitz syndrome

The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and ...
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Online First

Dual impact of uniparental disomy in imprinting and recessive disorders: a case of UPD(15) with unexpected inheritance and literature review ...
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Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy

1 Molecular and Cytogenetics Unit, Department of Haematology and Genetics, South Eastern Area Laboratory Services, Prince of Wales Hospital, Randwick, Sydney, Australia Background: Recent ...
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Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease genetics. We aimed to evaluate a scalable framework for genome-based analyses ‘beyond the exome’ in regular care ...
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Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome

Purpose Whereas most human genes encode multiple mRNA isoforms with distinct function, clinical workflows for assessing this heterogeneity are not readily available. This is a substantial shortcoming, ...
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Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases

Correspondence to Dr Koji M Nishiguchi, Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, 466-8560, Japan; kmn{at}med.nagoya-u.ac.jp; Professor Koh-Hei Sonoda, ...
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A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 ...

Department of Internal Medicine I, St Josef-Hospital, Ruhr-University, Bochum, Germany Background: The understanding of genetic risk factors for chronic pancreatitis increased in the last decade with ...
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Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

Background The Canadian Open Genetics Repository is a collaborative effort for the collection, storage, sharing and robust analysis of variants reported by medical diagnostics laboratories across ...