Epigenetic regulation is critical for proper bone development. Evidence from a large body of
published literature informs us that microRNAs (miRNAs) are important epigenetic factors …

Copy number variants (CNVs) are associated with many neurocognitive disorders; however,
these events are typically large, and the underlying causative genes are unclear. We …

Chromosomal microarray (CMA) testing, used to identify DNA copy number variations
(CNVs), has helped advance knowledge about genetics of human neurodevelopmental …

Background Despite abundant evidence for pathogenicity of large copy number variants
(CNVs) in neurodevelopmental disorders (NDDs), the individual significance of genome …

Background Congenital anomalies of the kidney and urinary tract (CAKUT) represent a
significant healthcare burden since it is the primary cause of chronic kidney in children …

Purpose Studies have previously implicated PRRX1 in craniofacial development, including
demonstration of murine Prrx1 expression in the preosteogenic cells of the cranial sutures …

MicroRNAs (miRNAs) are small non‐coding RNAs that function to control many cellular
processes by their ability to suppress expression of specific target genes. Tens to hundreds …

Background Inference of population structure is crucial for studies of human evolutionary
history and genome‐wide association studies. While several genomic regions have been …

Interstitial deletion 1q24q25 is a rare rearrangement associated with intellectual disability,
growth retardation, abnormal extremities and facial dysmorphism. In this study, we describe …

SOX11 is a transcription factor belonging to the sex determining region Y-related high-
mobility group box family that plays a vital role in early embryogenesis and neurogenesis …