The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently
recognized syndrome of multiple congenital anomalies and mental retardation and is the first …

The association of genetic variation with disease and drug response, and improvements in
nucleic acid technologies, have given great optimism for the impact of ‘genomic medicine’. …

Background Whole-exome sequencing is a diagnostic approach for the identification of
molecular defects in patients with suspected genetic disorders. Methods We developed technical…

Stargardt disease (STGD, also known as fundus flavimaculatus; FFM) is an autosomal recessive
retinal disorder characterized by a juvenile-onset macular dystrophy, alterations of the …

Charcot-Marie-Tooth disease type 1 A (CMTi A) was localized by genetic mapping to a 3
CM interval on human chromosome 17~. DNA markers within this interval revealed a …

Importance Clinical whole-exome sequencing is increasingly used for diagnostic evaluation
of patients with suspected genetic disorders. Objective To perform clinical whole-exome …

Deletions and duplications of chromosomal segments (copy number variants, CNVs) are a
major source of variation between individual humans and are an underlying factor in human …

During the last quarter of the twentieth century, our knowledge about human genetic variation
was limited mainly to the heterochromatin polymorphisms, large enough to be visible in …

Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs
are being identified with various genome analysis platforms, including array comparative …

Age-related macular degeneration (AMD) is the leading cause of severe central visual
impairment among the elderly and is associated both with environmental factors such as smoking …