Organisations and governments seeking to implement genomics into clinical practice face
numerous challenges across multiple, diverse aspects of the health care system. It is not …

Background Despite growing evidence of diagnostic yield and clinical utility of whole exome
sequencing (WES) in patients with undiagnosed diseases, there remain significant cost and …

Objective To determine the proportion of infant deaths occurring in the setting of a confirmed
genetic disorder. Study design A retrospective analysis of the electronic medical records of …

Purpose Exome sequencing (ES) has the potential to improve management of congenital
anomalies and neurodevelopmental disorders in fetuses, infants, and children. US payers …

Primary ovarian insufficiency (POI) is defined by the loss or dysfunction of ovarian follicles
associated with amenorrhea before the age of 40. Symptoms include hot flashes, sleep …

Purpose To evaluate the performance of proband-only medical exome sequencing
(POMES) as a cost-effective first-tier diagnostic test for pediatric patients with unselected …

Congenital hearing impairment (HI) is the most common sensory impairment and can be
isolated or part of a syndrome. Diagnosis through newborn hearing screening and …

A pilot program was initiated using whole genome sequencing (WGS) to diagnose
suspected genetic disorders in the Genetics Clinic at Children's Hospital of Wisconsin …

Neurodevelopmental and psychiatric disorders are a highly disabling and heterogeneous
group of developmental and mental disorders, resulting from complex interactions of genetic …

Purpose Clinical genome or exome sequencing (GS/ES) provides a diagnosis for many
individuals with suspected genetic disorders, but also yields negative or uncertain results for …