Etiqueta: #JMedGenet
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Later age of natural menopause among women with the pathogenic CHEK2 c.1100delC variant: a validation study
Background The average age of natural menopause (ANM) for European women is 50–52 years. Reproductive risk and lifestyle factors have been found to be associated with ANM. Furthermore, a genome-wide association study found that women with a CHEK…
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Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants
Background Heterozygous Familial Hypercholesterolaemia (HeFH) is caused by pathogenic variants in LDLR, APOB, APOE or PCSK9, leading to elevated low-density lipoprotein-cholesterol and increased cardiovascular risk. In the UK, HeFH affects ~1 in 288 i…
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Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience
Background The availability of large volumes of data from genetic testing has enabled the interpretation of more DNA variants, contributing to a greater number of identified variants of uncertain significance (VUS). The growing number of VUS causes a …
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Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies
Background Optical genome mapping (OGM) is a novel technology that enables high-resolution detection of structural variants. This study aimed to evaluate the diagnostic contribution of OGM in early-onset developmental epileptic encephalopathies (DEEs)…
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Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies
Background Optical genome mapping (OGM) is a novel technology that enables high-resolution detection of structural variants. This study aimed to evaluate the diagnostic contribution of OGM in early-onset developmental epileptic encephalopathies (DEEs)…
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Clinical characteristics and prognosis of SDHD pathogenic variant carriers: a systematic review and meta-analysis
Background Germline pathogenic variants (PVs) of succinate dehydrogenase subunit D (SDHD) are major genetic causes of pheochromocytomas and paragangliomas. Existing studies have reported inconsistent findings and lack a comprehensive synthesis regardi…
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Clinical characteristics and prognosis of SDHD pathogenic variant carriers: a systematic review and meta-analysis
Background Germline pathogenic variants (PVs) of succinate dehydrogenase subunit D (SDHD) are major genetic causes of pheochromocytomas and paragangliomas. Existing studies have reported inconsistent findings and lack a comprehensive synthesis regardi…
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Retraction: multiple articles in volume 56, issue 1 (2019)
Seven research papers and one editorial submitted in response to a call for papers on and published in a topic collection ‘Genomic aspects of cancer immunotherapy: Challenges and clinical implications’ in the Journal of Medical Genetics ar…
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Retraction: multiple articles in volume 56, issue 1 (2019)
Seven research papers and one editorial submitted in response to a call for papers on and published in a topic collection ‘Genomic aspects of cancer immunotherapy: Challenges and clinical implications’ in the Journal of Medical Genetics ar…
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Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntingtons disease
Presymptomatic testing (PT) for Huntington’s disease (HD) has been available for over 40 years. Individuals who opt for PT are typically at a 50% risk, though in rare cases, ‘25% at-risk individuals’ request to know their genetic sta…