Miriam S. Reuter

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 565 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Ashleigh E. Schaffer, Veerle Rc Eggens, Ahmet Okay Çağlayan et al. · Cell · 2014 · 283 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Genomic architecture of autism from comprehensive whole-genome sequence annotation

Brett Trost, Bhooma Thiruvahindrapuram, Ada J. S. Chan et al. · Cell · 2022 · 277 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

Miriam S. Reuter, Hasan Tawamie, Rebecca Buchert et al. · JAMA Psychiatry · 2017 · 246 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Esther Meyer, Keren Carss, Julia Rankin et al. · Nature Genetics · 2016 · 245 citations · Full text

Life Sciences, Genetics, Molecular Biology +10