The clustered regularly interspaced short palindromic repeats (CRISPR) system of genome
editing represents a major technological advance spanning all areas of genetics and …

The structural maintenance of chromosomes hinge domain containing protein 1 (SMCHD1)
is a large multidomain protein involved in epigenetic gene silencing. Variations in the …

Background and purpose The aim was to define the radiological picture of
facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1 and to …

In recent years, zebrafish (ZF) has been increasingly applied as a model in human disease
studies, with a particular focus on cancer. A number of advantages make it an attractive …

Proper craniofacial development in vertebrates depends on growth and fusion of the facial
processes during embryogenesis. Failure of any step in this process could lead to …

Facial development requires a complex and coordinated series of cellular events that, when
perturbed, can lead to structural birth defects. A quantitative approach to quickly assess …

Bringing a new drug to the market costs an average of US $2.6 billion and takes more than
10 years from discovery to regulatory approval. Despite the need to reduce cost and time to …

Trio exome sequencing has been successful in identifying genes with de novo mutations
(DNMs) causing epileptic encephalopathy (EE) and other neurodevelopmental disorders …

Background: Two loci (CHD7 and SOX10) underlying Kallmann syndrome (KS) were
discovered through clinical and genetic analysis of CHARGE and Waardenburg syndromes …

Embryonic genome activation (EGA) in mammals begins with transient expression of a large
group of genes (EGA1). Importantly, entry into and exit from the 2C/EGA state is essential for …