Background Mainstreaming, in which genetic testing is shifted outside clinical genetics, can improve access to genetic testing. This is being explored in several countries, including Canada, the USA ...
Breast cancer risk after ovarian cancer in germline BRCA1/2 heterozygotes remains uncertain, with a recent large multicentre international study reporting lower-than-expected incidence in the first ...
7 Soroka Medical Center Institute of Human Genetics, Be’er Sheva, Israel Background Preconception genetic screening is a key preventive strategy for identifying at-risk couples (ARCs) of inherited ...
This document is written on behalf of the two professional bodies in the UK that represent genetic counsellors (the Association of Genetic Nurses and Counsellors (AGNC)) and clinical geneticists (the ...
Background Mammalian target of rapamycin (mTOR) inhibitors are effective treatments for tumours and epilepsy in tuberous sclerosis complex (TSC). This study aimed to determine the effects of the mTOR ...
Background During genetic screening for radioulnar synostosis (RUS), we identified FBN2 variants in individuals who also exhibited pectus excavatum (PE). This study aimed to investigate the ...
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.
Background Chromosome 19 is the most gene-dense chromosome in the human genome, with a high frequency of segmental duplications that predispose it to genomic rearrangements. While deletions of ...
Background Improving the precision and accuracy of variant classification in clinical genetic testing requires further specification and stratification of the American College of Medical ...
1 Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China Background Nanophthalmos is a rare ocular condition characterised by a significantly short axial ...
Introduction Rapid advances in whole-exome sequencing (WES) have enabled large-scale detection of pathogenic variants. Although hundreds of genes are implicated in hearing loss, up to half of ...
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