期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (6)
Background A proportion of de novo variants in patients affected by genetic disorders, particularly those with autosomal dominant (AD) inheritance, co......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (3)
Variant-specific loss of heterozygosity (LOH) analyses may be useful to classify BRCA1/2 germline variants of unknown significance (VUS). The sensitiv......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (1)
GGC repeat expansion in the 5 ' untranslated region of NOTCH2NLC is the most common causative factor in neuronal intranuclear inclusion disease (NIID)......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (1)
Background Sarcomatoid component occurs in various epithelial malignancies and is associated with an aggressive disease course and poor clinical outco......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (11)
Background The ever-increasing capacity of short-read sequencing instruments is driving the adoption of whole genome sequencing (WGS) as a universal a......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (3)
Background The probability of a pregnancy, live birth, stillbirth and abortion has never been assessed in women with neurofibromatosis 1 (NF1) in a la......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (4)
Purpose The increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve the efficiency of varian......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (6)
Background Premature ovarian insufficiency (POI) is a common disease in women that leads to a reduced reproductive lifespan. The aetiology of POI is g......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (6)
Background Identifying at-risk relatives of individuals with genetic conditions facilitates 'cascade' genetic testing and cancer prevention. Although ......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (8)
Background Traditional medical genetics models are unable to meet the growing demand for germline genetic testing (GT) in patients with exocrine pancr......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (2)
SOX10 belongs to a family of 20 SRY (sex-determining region Y)-related high mobility group box-containing (SOX) proteins, most of which contribute to ......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (10)
Purpose Approximately 20% of patients with clinical familial adenomatous polyposis (FAP) remain unsolved after molecular genetic analysis of the APC a......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (9)
Gorlin-Goltz syndrome (GGS) or nevoid basal cell carcinoma syndrome is a rare tumour-overgrowth syndrome associated with multiple developmental anomal......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (12)
Background The SCN5A variant is a common cause of familial dilated cardiomyopathy (DCM). We previously reported a SCN5A variant (c.674G>A), located......
期刊： JOURNAL OF MEDICAL GENETICS, 2022; 59 (12)
Background The 100 000 Genomes Project (100K) recruited National Health Service patients with eligible rare diseases and cancer between 2016 and 2018.......
