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 · 551 citations · Full text

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 · 280 citations · Full text

Genomic architecture of autism from comprehensive whole-genome sequence annotation

Brett Trost, Bhooma Thiruvahindrapuram, Ada J. S. Chan et al. · Cell · 2022 · 258 citations · Full text

Functional Genomics, Syndromic Autism, Genetics +6

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 · 239 citations

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

Brett Trost, Susan Walker, Zhuozhi Wang et al. · The American Journal of Human Genetics · 2018 · 199 citations · Full text

Long-read Sequencing, Functional Genomics, Molecular Ecology +14