Danny E. Miller

Using the linear references from the pangenome to discover missing autism variants

GREGoR: accelerating genomics for rare diseases

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Single-fly genome assemblies fill major phylogenomic gaps across the Drosophilidae Tree of Life

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

3-hour genome sequencing and targeted analysis to rapidly assess genetic risk

Applications of long-read sequencing to Mendelian genetics

Advances in the discovery and analyses of human tandem repeats

Genome Report: chromosome-scale genome assembly of the African spiny mouse (<i>Acomys cahirinus</i>)

The complete sequence of a human genome

A complete reference genome improves analysis of human genetic variation

Curated variation benchmarks for challenging medically relevant autosomal genes

Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Targeted long-read sequencing identifies missing disease-causing variation

Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis

Alpha Satellite Insertion Close to an Ancestral Centromeric Region

Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B)

Phosphorylation of the Synaptonemal Complex Protein Zip1 Regulates the Crossover/Noncrossover Decision during Yeast Meiosis

Synaptonemal complex extension from clustered telomeres mediates full-length chromosome pairing in <i>Schmidtea mediterranea</i>