A handful of start-up firms are testing therapies that target specific epigenetic markers to treat everything from high ...
At Baylor Genetics, we believe the biggest leap forward for rare disease diagnosis will happen when WGS becomes the standard ...
Predictive biomarkers remain a key foundation of personalized medicine, enabling the identification of patients most likely ...
Studies of genetics conducted in yeast cells, human neurons, mice or other model systems often reveal networks of genes that ...
Bionano Genomics, Inc. (Nasdaq: BNGO) today announced that studies featuring optical genome mapping (OGM) at the 2026 European Society of Human Genetics (ESHG) ...
Congenital heart disease (CHD) is the most common birth defect and a leading cause of infant mortality. CHD often has a genetic cause, and recent studies demonstrate the utility of genetic testing. In ...
Daniel Combs, MD, is an Assistant Professor of Pediatrics and Medicine at the University of Arizona. Clinical signs raise suspicion for Prader-Willi syndrome (PWS), but genetic testing confirms it.
After a decade of clinical assessments failed to meet DSM-5 criteria, a chromosomal microarray revealed the genetic truth behind a complex neurodevelopmental presentation. This question addresses a ...
We report a family with X-linked ichthyosis (XLI), in which the non-invasive prenatal testing (NIPT) results from the pregnant woman revealed a deletion of approximately 2 Mb at Xp22.31, confirmed by ...
Non-invasive prenatal testing (NIPT) has recently expanded to include sex chromosomal aneuploidies (SCAs) and copy number variations (CNVs), as well as the commonly screened trisomies (T21, T18, and ...
Study of 99 pediatric patients found clinically significant CNVs in 30% of cases, supporting CMA as a first-tier test for developmental delay and ID. Clinically significant CNVs were identified in 30% ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results