Categoría: JMG First
-
VHL gene fragment analysis: large inversion detection in Alu region for clinical applications
von Hippel-Lindau (VHL) is an autosomal-dominant tumour susceptibility disorder associated with pathogenic germline variants in the VHL gene that put patients at increased risk of developing benign and malignant tumours within various organs. While cur…
-
Rare missense variants in MYO7A and OTOP2 genes in a South Korean Menieres disease cohort
BackgroundMeniere’s disease (MD) is a polygenic condition defined by episodes of vertigo associated with sensorineural hearing loss and tinnitus. Genetic studies in familial MD in East Asian populations are limited, and the potential MD genes rem…
-
Rare missense variants in MYO7A and OTOP2 genes in a South Korean Menieres disease cohort
BackgroundMeniere’s disease (MD) is a polygenic condition defined by episodes of vertigo associated with sensorineural hearing loss and tinnitus. Genetic studies in familial MD in East Asian populations are limited, and the potential MD genes rem…
-
Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies
BackgroundOptical 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) w…
-
Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies
BackgroundOptical 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) w…
-
Clinical characteristics and prognosis of SDHD pathogenic variant carriers: a systematic review and meta-analysis
BackgroundGermline 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 regarding…
-
Clinical characteristics and prognosis of SDHD pathogenic variant carriers: a systematic review and meta-analysis
BackgroundGermline 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 regarding…
-
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 are…
-
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 are…
-
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 stat…