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Identification of Lynch syndrome among people newly diagnosed with endometrial cancer: a prospective audit

Background Since 2020, the UK National Institute for Health and Care Excellence (NICE) recommends screening for Lynch syndrome in all people newly diagnosed with endometrial cancer. Screening involves ...
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Long-read genome sequencing increases diagnostic yield in a short-read sequencing unsolved developmental epileptic encephalopathy (DEE) cohort

Developmental epileptic encephalopathy (DEE) comprises neurodevelopmental disorders with early-onset seizures and developmental impairment. Despite >900 implicated genes, many patients remain ...
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Complex I deficiency: clinical features, biochemistry and molecular genetics

Complex I deficiency is the most frequent mitochondrial disorder presenting in childhood, accounting for up to 30% of cases. As with many mitochondrial disorders, complex I deficiency is characterised ...
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O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

Correspondence to Dr Florian Erger, Institute of Human Genetics, University Hospital Cologne, 50931 Cologne, Nordrhein-Westfalen, Germany; florian.erger{at}uk-koeln.de Methods Affected individuals ...
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Comprehensive genomic variation profiling of cervical intraepithelial neoplasia and cervical cancer identifies potential targets for cervical cancer early warning

7 Shenzhen People’s Hospital, Second Clinical Medical College of Jinan University, Shenzhen, China Background To better understand the pathogenesis of cervical cancer (CC), we systematically analysed ...
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Variant reclassification and clinical implications

Genomic technologies have transformed clinical genetic testing, underlining the importance of accurate molecular genetic diagnoses. Variant classification, ranging from benign to pathogenic, is ...
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Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance

1 Department of Medical Genetics, University Hospital Brugmann, Brussels, Belgium 2 Department of Neonatology, Children's University Hospital Queen Fabiola, Brussels, Belgium 3 Department of Neurology ...
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Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips

4 Department of Medical Genetics, Division of Biomedical Genetics, University Medical Centre, Utrecht, The Netherlands Correspondence to: Dr G Mortier, Department of Medical Genetics, Ghent University ...
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Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

Correspondence to Dr Francesca Maltecca, Division of Genetics and Cell Biology IRCCS Ospedale San Raffaele and Università Vita-Salute San Raffaele, Via Olgettina 58, Milan 20132, Italy; ...
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Online First

Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington’s disease ...
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Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective

Correspondence to Dr Yun Yuan, Department of Neurology, Peking University First Hospital, Beijing, China; yuanyun2002{at}126.com; Dr Sushan Luo, Department of Neurology, Huashan Hospital Fudan ...
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Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants

Background This study aimed to analyse the distribution and genotype-phenotype correlations of pathogenic variants among 11 509 newborns carrying at least one common deafness-associated variant.