Miriam S. Reuter

The paper describes a structured initiative to assess patient eligibility for genetic medicines, showing high uptake and feasibility of a multidisciplinary approach.

The paper revises a human diploid genome assembly using a scalable workflow with Oxford Nanopore reads, achieving high accuracy and contiguity without ultra-long reads or other technologies.

The paper estimates the proportion of genetic diagnoses in a pediatric cohort that are amenable to antisense oligonucleotide therapy, finding 4.9% eligible or likely eligible.

The paper identifies DDX53 genetic variants in individuals with ASD, showing a link between DDX53 and ASD, and highlights implications for genetic testing and mouse modeling.

The paper develops a genome-wide rare variant score linked to morphological subtypes of ASD and finds higher scores in dysmorphic ASD cases.

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.

The paper identifies clinically relevant genetic variants in TOF patients and constructs a protein interaction network linking these variants to disease mechanisms.

This paper identifies ultra-rare variants in NOTCH1 and FLT4 associated with tetralogy of Fallot using burden analysis of genome sequences from 231 individuals.

The paper describes the generation of genetically annotated iPSC lines from healthy donors and demonstrates their use in creating disease-relevant cell types and identifying variant-preferred lines for control in disease modeling.