Background There is considerable interest in the use of next-generation sequencing to help
diagnose unidentified genetic conditions, but it is difficult to predict the success rate in a …

Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome
characterized by recurrent hemiplegic episodes and distinct neurological manifestations …

Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for
comprehensive genomic interpretation remain immature. Diagnoses are based on known or …

BACKGROUND: NLR family, pyrin domain containing 3 (NLRP3), controls the activity of
inflammatory caspase-1 by forming inflammasomes, which leads to cleavage of the …

Thymic stromal lymphopoietin (TSLP) triggers dendritic cell–mediated T helper (Th) 2
inflammatory responses. A single-nucleotide polymorphism (SNP), rs3806933, in the …

We studied five individuals from three Jewish Bukharian families affected by an apparently
autosomal-recessive form of hereditary spastic paraparesis accompanied by severe …

We analyzed four families that presented with a similar condition characterized by
congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable …

Primary biliary cholangitis (PBC) is a chronic, progressive cholestatic liver disease in which
the small intrahepatic bile ducts are destroyed by autoimmune reactions. Among …

Backgrounds & Aims Primary biliary cholangitis (PBC) is a chronic liver disease in which
autoimmune destruction of the small intrahepatic bile ducts eventually leads to cirrhosis …

Background & Aims Genetic variation of inosine triphosphatase (ITPA) causing an
accumulation of inosine triphosphate (ITP) has been shown to protect patients against …