Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …

Genetic variants, including single-nucleotide variants (SNVs) and copy number variants
(CNVs), in the non-coding regions of the human genome can play an important role in …

We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …

Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations …

Background Identification of chromosomal aneuploidies and copy number variants that are
associated with fetal structural anomalies has substantial value. Although whole-exome …

Disclaimer: This statement is designed primarily as an educational resource for clinicians to
help them provide quality medical services. Adherence to this statement is completely …

Purpose This workgroup aimed to develop an evidence-based clinical practice guideline for
the use of noninvasive prenatal screening (NIPS) for pregnant individuals at general risk for …

Objectives We conducted a systematic review and meta‐analysis to determine the
diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal structural …

There are over 1 million transgender people living in the United States, and 33% report
negative experiences with a healthcare provider, many of which are connected to data …

Introduction Noninvasive prenatal testing (NIPT) using cell‐free fetal DNA has increasingly
been adopted as a screening tool for fetal aneuploidies. Several studies have discussed …