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

Objectives First, to determine the incremental yield of whole‐genome sequencing (WGS)
over quantitative fluorescence polymerase chain reaction (QF‐PCR)/chromosomal …

Pregnancy loss and perinatal death are devastating events for families. We assessed
'genomic autopsy'as an adjunct to standard autopsy for 200 families who had experienced …

Importance Understanding the causes of infant mortality shapes public health, surveillance,
and research investments. However, the association of single-locus (mendelian) genetic …

Understanding causes of infant mortality shapes public health policy and prioritizes
diseases for investments in surveillance, intervention and medical research. Rapid genomic …

Purpose To determine the diagnostic yield of combined exome sequencing (ES) and
autopsy in fetuses/neonates with prenatally identified structural anomalies resulting in …

Background Congenital anomalies are the leading cause of early neonatal death in
neonatal intensive care units (NICUs), but the genetic causes are unclear. This study aims to …

Background Emerging studies suggest that whole genome sequencing provides additional
diagnostic yield of genomic variants when compared with chromosomal microarray analysis …

ARHGAP35 has known roles in cell migration, invasion and division, neuronal
morphogenesis, and gene/mRNA regulation; prior studies indicate a role in cancer in …

Abstract Slit-Robo GTPase-activating protein 2 (SRGAP2) plays important roles in axon
guidance, neuronal migration, synapse formation, and nerve regeneration. However, the …