Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus
(MPPH) syndromes are sporadic overgrowth disorders associated …

Inherited monogenic disease has an enormous impact on the well-being of children and
their families. Over half of the children living with one of these conditions are without a …

SLC39A8 is a membrane transporter responsible for manganese uptake into the cell. Via
whole-exome sequencing, we studied a child that presented with cranial asymmetry, severe …

Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic
disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in …

Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap
with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises …

Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein cofactors;
various human studies and animal models have demonstrated the importance of Mn and …

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising
craniofacial malformations, microcephaly, developmental delay, and a recognizable …

Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed
osseous maturation, expressive-language deficits, and a distinctive facial appearance. …

SHORT syndrome is a rare, multisystem disease characterized by short stature, anterior-chamber
eye anomalies, characteristic facial features, lipodystrophy, hernias, hyperextensibility, …

The discovery of disease‐causing mutations typically requires confirmation of the variant or
gene in multiple unrelated individuals, and a large number of rare genetic diseases remain …