Mitral valve prolapse (MVP) is a common cardiac valve disease that affects nearly 1 in 40
individuals 1 , 2 , 3 . It can manifest as mitral regurgitation and is the leading indication for …

Fetal Exome from Maternal Blood Draw The authors describe a noninvasive prenatal
screening approach involving a survey of sequence variation across the entire fetal exome …

Pre-mRNA splicing is a key controller of human gene expression. Disturbances in splicing
due to mutation lead to dysregulated protein expression and contribute to a substantial …

Rett syndrome is a severe neurodevelopmental disorder mainly caused by mutations in the
transcriptional regulator MeCP2. Although there is no effective therapy for Rett syndrome, the …

Acetylcholinesterase (AChE) exists in various molecular forms, depending on alternative
splicing of its transcripts and association with structural proteins. Tetramers of the ‘tailed’ variant …

Familial dysautonomia (FD) is a recessive neurodegenerative disease caused by a splice
mutation in Elongator complex protein 1 (ELP1, also known as IKBKAP); this mutation leads to …

Familial dysautonomia (FD) is a rare neurodegenerative disease caused by a splicing
mutation in elongator acetyltransferase complex subunit 1 (ELP1). This mutation leads to the …

Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disease that
affects the development and survival of sensory and autonomic neurons. FD is caused by an …

Point mutations and structural variants that directly disrupt the coding sequence of MEF2C
have been associated with a spectrum of neurodevelopmental disorders (NDDs). However, …

Mucolipidosis IV (MLIV) is an orphan disease leading to debilitating psychomotor deficits
and vision loss. It is caused by loss-of-function mutations in the MCOLN1 gene that encodes …