Adult polyglucosan body disease (APBD) is a rare but probably underdiagnosed autosomal
recessive neurodegenerative disorder due to pathogenic variants in GBE1. The phenotype …

Our understanding of genetic and phenotypic heterogeneity associated with the clinical
spectrum of rare diseases continues to expand. Thorough phenotypic descriptions and …

De novo variants are a leading cause of neurodevelopmental disorders (NDDs), but
because every monogenic NDD is different and usually extremely rare, it remains a major …

Pathogenic variants in SPART cause Troyer syndrome, characterized by lower extremity
spasticity and weakness, short stature and cognitive impairment, and a severe mitochondrial …

Purpose Biallelic variants in UCHL1 have been associated with a progressive early-onset
neurodegenerative disorder, autosomal recessive spastic paraplegia type 79. In this study …

Background Genetic variants are considered to have a crucial impact on the occurrence of
ischemic stroke. In clinical routine, the diagnostic value of next-generation sequencing …

Variants in PRDX3 have recently been described to cause autosomal-recessive cerebellar
ataxia. 1 However, confirmation by an independent second report is still lacking and …

Background Pathogenic variants in the zinc finger protein coding genes are rare causes of
intellectual disability and congenital malformations. Mutations in the ZNF148 gene causing …

Abstract Filamin-A-interacting protein 1 (FILIP1) is a structural protein that is involved in
neuronal and muscle function and integrity and interacts with FLNa and FLNc. Pathogenic …

Objectives To examine the diagnostic yield of trio exome sequencing in fetuses with multiple
structural defects with no pathogenic findings in cytogenetic and microarray analyses …