Ciliopathies comprise a group of complex disorders, with involvement of the majority of
organs and systems. In total,> 180 causal genes have been identified and, in addition to …

Cerebral cortical development involves a complex series of highly regulated steps to
generate the laminated structure of the adult neocortex. Neuronal migration is a key part of …

Purpose The application of genomic sequencing to investigate unexplained death during
early human development, a form of lethality likely enriched for severe Mendelian disorders …

The monogenic etiology of most severe fetal anomaly syndromes is poorly understood. Our
objective was to use exome sequencing (ES) to increase our knowledge on causal variants …

Accurate chromosome segregation demands efficient capture of microtubules by
kinetochores and their conversion to stable bioriented attachments that can congress and …

Background The most common cyanotic congenital heart disease (CHD) requiring
management as a neonate is transposition of great arteries (TGA). Clinically, up to 50% of …

Congenital hydrocephalus (CH) is caused by genetic mutations, but whether factors
impacting human genetic mutations are disease-specific remains elusive. Given two factors …

Keratoconus is a common corneal defect with a complex genetic basis. By whole exome
sequencing of affected members from 11 multiplex families of European ancestry, we …

A small percentage of babies born to Zika virus (ZIKV)-infected mothers manifest severe
defects at birth, including microcephaly. Among those who appeared healthy at birth, there …

Regulators of mitotic division, when dysfunctional or expressed in a deregulated manner
(over-or underexpressed) in somatic cells, cause chromosome instability, which is a …