Ludmila Francescatto

Tbx5-mediated expression of Ca(2+)/calmodulin-dependent protein kinase II is necessary for zebrafish cardiac and pectoral fin morphogenesis.

The activation of membrane targeted CaMK-II in the zebrafish Kupffer's vesicle is required for left-right asymmetry.

CaMK-II is a PKD2 target that promotes pronephric kidney development and stabilizes cilia.

CaMK-II activation is essential for zebrafish inner ear development and acts through Delta-Notch signaling.

Disruptive CHD8 mutations define a subtype of autism early in development.

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

A human laterality disorder caused by a homozygous deleterious mutation in MMP21.

Newborn screening and the era of medical genomics.