For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for ...

Background Current standard-of-care (SOC) methods for genetic testing are capable of resolving deletions and sequence variants, but they mostly fail to provide information on the breakpoints of ...

JA Rosenfeld is an employee of Signature Genomic Laboratories, a subsidiary of PerkinElmer, Inc. The authors have no other relevant affiliations or financial involvement with any organization or ...

Separate studies led by scientists at Dartmouth Hitchcock Medical Center (DMHC) and Queens University offer some clarity about the hidden causes of recurrent pregnancy loss. Data from both studies is ...

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% ...

Molecular testing, including chromosomal microarray analysis, distinguishes between aggressive and indolent kidney cancer subtypes, aiding in accurate diagnosis. Accurate diagnosis is critical for ...

To assess the detection rate of exome sequencing (ES) in fetuses diagnosed as skeletal abnormalities (SKA) with normal karyotype or chromosomal microarray analysis (CMA) results. We conducted ...

Of the final sample, 31% of patients received at least one genetic test overall, but only 11% received concordant testing and at least one other test. Examining rates of genetic testing for autism ...

Taiwanese boxer Lin Yu-Ting was thrust into the middle of a gender eligibility controversy before the 2024 Paris Olympics and a fight against Uzbekistan fighter Sitora Turdibekova. Lin has not been in ...