Author
Children's Hospital of Eastern OntarioORCID 0000-0002-8879-6001Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Vicente A. Yépez, Rebeka Luknárová, Danique Beijer…·Julien Gagneur
The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.
Ben Weisburd, Rakshya Sharma, Villem Pata…·Anne O’Donnell‐Luria
The paper develops and validates SMA Finder, a tool to diagnose spinal muscular atrophy in genome, exome, and panel sequencing data, identifying known and novel cases with high accuracy.
J. Robert Harkness, John Henry McDermott, Shea Marsden…·William G. Newman
The paper identifies biallelic RCC1 variants causing an acute axonal neuropathy triggered by infection, with mechanistic overlap with ALS and GBS.
Wouter Steyaert, Lydia Sagath, German M. Demidov…·Alexander Hoischen
The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.