Transforming growth factor-βs (TGF-βs) and bone morphometric proteins (BMPs) belong to
the TGF-β superfamily and perform essential functions during osteoblast and chondrocyte …

Congenital heart disease is the most common birth defect, and because of major advances
in medical and surgical management, there are now more adults living with congenital heart …

Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here,
exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent …

Background Whole-exome sequencing can provide insight into the relationship between
observed clinical phenotypes and underlying genotypes. Methods We conducted a …

To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common
and most severe of congenital brain arteriovenous malformations, we performed an …

Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …

Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet
its genetic etiology remains unknown. We perform whole-exome or genome sequencing of …

Strategies to optimize clinical genetic diagnostic pathways by combining both targeted and
next-generation sequencing are discussed. In addition to improved genetic counseling …

Craniosynostosis is a major congenital craniofacial disorder characterized by the premature
fusion of cranial suture (s). Patients with severe craniosynostosis often have impairments in …

Variations in the form of the human face, which plays a role in our individual identities and
societal interactions, have fascinated scientists and artists alike. Here, we review our current …