Mendelian and complex genetic trait diseases continue to burden and affect society both
socially and economically. The lack of effective tests has hampered diagnosis thus, the …

It was first demonstrated in the late nineteenth century that human deaths from fever were
typically due to infections. As the germ theory gained ground, it replaced the old, unproven …

Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge
both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) …

Cerebellar ataxias require a multidisciplinary approach for diagnosis and management. The
demonstration of anatomical relationships between the cerebellum and basal ganglia …

Genetic ataxias are associated with mutations in hundreds of genes with high phenotypic
overlap complicating the clinical diagnosis. Whole‐exome sequencing (WES) has increased …

Objectives Clinical diagnostics in adults with hereditary neurological diseases is
complicated by clinical and genetic heterogeneity, as well as lifestyle effects. Here, we …

Objective We evaluated the prevalence of pathogenic repeat expansions in replication factor
C subunit 1 (RFC1) and disabled adaptor protein 1 (DAB1) in an undiagnosed ataxia cohort …

Hereditary ataxias, especially when presenting sporadically in adulthood, present a
particular diagnostic challenge owing to their great clinical and genetic heterogeneity …

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

New generation sequencing (NGS) genetic testing is a powerful diagnostic tool and is
increasingly used in the clinical workup of patients, especially in unusual presentations or …