Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …

The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can
be inherited or acquired, and result in defective keratinocyte differentiation and abnormal …

Gene discovery for Mendelian conditions (MCs) offers a direct path to understanding
genome function. Approaches based on next-generation sequencing applied at scale have …

Cathepsin B (CTSB) is a powerful lysosomal protease. This review evaluated CTSB gene
knockout (KO) outcomes for amelioration of brain dysfunctions in neurologic diseases and …

The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision
and blindness, was investigated in families lacking a molecular diagnosis. A refined locus …

The development of the human cerebral cortex is a complex and dynamic process, in which
neural stem cell proliferation, neuronal migration, and post-migratory neuronal organization …

Chromatin domains and loops are important elements of chromatin structure and dynamics,
but much remains to be learned about their exact biological role and nature. Topological …

Testing of patients with genetics-related disorders is in progress of shifting from single gene
assays to gene panel sequencing, whole-exome sequencing (WES) and whole-genome …

Enhancers are a class of regulatory elements essential for precise spatio-temporal control of
gene expression during development and in terminally differentiated cells. This review …

The term palmoplantar keratoderma (PPK) indicates any form of persistent thickening of the
epidermis of palms and soles and includes genetic as well as acquired conditions. We …