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Mutation in cytochrome b gene of mitochondrial DNA in a family with fibromyalgia is associated with NLRP3-inflammasome activation
9 Unidad de Reproducción Humana y Cirugía Endoscópica, Instituto para el Estudio de la Biología de la Reproducción Humana (INEBIR), Sevilla, Spain Correspondence to Dr Mario D Cordero, IBiS Institute ...
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Mutation in TDRD9 causes non-obstructive azoospermia in infertile men
Background Azoospermia is diagnosed when sperm cells are completely absent in the ejaculate even after centrifugation. It is identified in approximately 1% of all men and in 10%–20% of infertile males ...
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Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre
Background The findings of variants of uncertain significance (VUS) on a clinical genetic testing report pose a challenge for attending healthcare professionals (HCPs) in patient care. Here, we ...
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Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors
Correspondence to Dr Philip A J Crosbie, Manchester Thoracic Oncology Centre, North West Lung Centre, Manchester University NHS Foundation Trust, Wythenshawe M23 9LT, UK; ...
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Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
1 Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia 2 Department of Pediatrics, King Khalid University Hospital, College of Medicine, King Saud ...
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Apoptosis and cancer: mutations within caspase genes
The inactivation of programmed cell death has profound effects not only on the development but also on the overall integrity of multicellular organisms. Beside developmental abnormalities, it may lead ...
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Online First
Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3 ...
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Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research
12 Cancer Research UK Familial Gastric Cancer Study, University Department of Oncology, Addenbrooke's Hospital, Cambridge, UK 13 Cancer Research UK Cambridge Research Institute and Department of ...
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Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 2 Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA 3 Texas Children’s Hospital, Houston ...
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Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome
Background The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT), reclassified in the 2017 nosology into 13 subtypes. The genetic basis for hypermobile Ehlers-Danlos ...
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TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
1 Pediatric Department A', Ha'Emek Medical Center, Afula, Israel 2 Genetic Institute, Ha'Emek Medical Center, Afula, Israel 3 Rappaport School of Medicine, Technion, Medical Center, Haifa, Israel 4 ...
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Investigating the genetic susceptibility to exertional heat illness
Background We aimed to identify rare (minor allele frequency ≤1%), potentially pathogenic non-synonymous variants in a well-characterised cohort with a clinical history of exertional heat illness (EHI ...