Miriam S. Reuter

Combined [18F]Fluorodeoxyglucose PET and [123I]Iodometomidate-SPECT for diagnostic evaluation of indeterminate adrenal neoplasias—the cross-sectional diagnostic test accuracy study FAMIAN

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

Genomic architecture of autism from comprehensive whole-genome sequence annotation

Genome sequencing in families with congenital limb malformations

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

<i>NDST1</i> missense mutations in autosomal recessive intellectual disability