Whilst a disease-modifying treatment for Facioscapulohumeral muscular dystrophy (FSHD)
does not exist currently, recent advances in complex molecular pathophysiology studies of …

Chromosomal aberrations including structural variations (SVs) are a major cause of human
genetic diseases. Their detection in clinical routine still relies on standard cytogenetics …

Robertsonian translocations (RTs) result from fusion of 2 acrocentric chromosomes (eg, 13,
14, 15, 21, 22) and consequential losses of segments of the p arms containing 47S rDNA …

The purpose of this study was to explore the copy number variations (CNVs) associated with
miscarriage during early and middle pregnancy and provide useful genetic guidance for …

Chromosomal structural variations (SVs) are a main cause of human genetic disease.
Currently, karyotype, chromosomal microarray analysis (CMA), and fluorescent in situ …

DNA sequencing technologies for clinical genetic testing have been rapidly evolving in
recent years, and steadily become more important within the field of prenatal diagnostics …

Many neuromuscular disorders preexist or occur during pregnancy. In some cases,
pregnancy unmasks a latent hereditary disorder. Most available information is based on …

Background: Balanced translocation (BT) carriers can produce imbalanced gametes and
experience recurrent spontaneous abortions (RSAs) and even give birth to a child with …

Chromosomal aberrations and structural variations are a major cause of human genetic
diseases. Their detection in clinical routine still relies on standard cytogenetics, karyotyping …

The introduction of optical genome mapping has improved time constraints and a lack of
specificity from previous methodologies when performing genome‐wide analyses of …