Patient registries serve to overcome the research limitations inherent in the study of rare
diseases, where patient numbers are typically small. Despite the value of real-world data …

Molecular methods, by which copy number variants (CNVs) detection is available, have
been gradually introduced into routine diagnostics over the last 15 years. Despite this, some …

TG is a shareholder of Westlake Omics Inc. TI is a cofounder of Data4Cure, is on the
Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …

Rare copy-number variation (CNV) is an important source of risk for autism spectrum
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …

We report the identification of a recurrent, 520-kb 16p12. 1 microdeletion associated with
childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases …

The duplication architecture of the human genome predisposes our species to recurrent
copy number variation and disease. Emerging data suggest that this mechanism of mutation …

Deletion 1p36 syndrome is recognized as the most common terminal deletion syndrome.
Here, we describe the loss of a gene within the deletion that is responsible for the …

Next‐generation sequencing methods have revolutionized the speed of generating variation
information. Sequence data have a plethora of applications and will increasingly be used for …

Copy‐number variations (CNV s) are a common cause of intellectual disability and/or
multiple congenital anomalies (ID/MCA). However, the clinical interpretation of CNV s …

Array-based whole genome investigation or molecular karyotyping enables the genome-
wide detection of submicroscopic imbalances. Proof-of-principle experiments have …