Abstract Disclaimer: These ACMG Standards and Guidelines were developed primarily as
an educational resource for clinical laboratory geneticists to help them provide quality …

Atopic disease, including atopic dermatitis (eczema), allergy and asthma, has increased in
frequency in recent decades and now affects∼ 20% of the population in the developed …

Disclaimer: These recommendations are designed primarily as an educational resource for
medical geneticists and other healthcare providers to help them provide quality medical …

Ichthyosis vulgaris (OMIM 146700) is the most common inherited disorder of keratinization
and one of the most frequent single-gene disorders in humans. The most widely cited …

Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …

Next-generation sequencing technologies have been and continue to be deployed in
clinical laboratories, enabling rapid transformations in genomic medicine. These …

The field of science and medicine has experienced a flood of data and technology
associated with the human genome project. Over 10,000 human diseases have been …

Purpose: We report the diagnostic yield of whole-exome sequencing (WES) in 3,040
consecutive cases at a single clinical laboratory. Methods: WES was performed for many …

ACMG previously developed recommendations for standards for interpretation of sequence
variations. We now present the updated revised recommendations. Here, we describe six …

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare
cornification diseases. Germline mutations in TGM1 are the most common cause of ARCI in …