Last Updated: 09/26/2026
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Found 54 publications
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.
Journal: medRxiv : the preprint server for health sciences
Published: July 03, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.
Journal: bioRxiv : the preprint server for biology
Published: June 04, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.
Journal: bioRxiv : the preprint server for biology
Published: June 04, 2026
Case Study 11: A 67-Year-Old Man With Behavioral Disturbances and Frequent Falls.
Journal: The Journal of neuropsychiatry and clinical neurosciences
Published: April 24, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.
Journal: medRxiv : the preprint server for health sciences
Published: February 06, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.
Journal: Research square
Published: February 06, 2026
Augmenting Diagnostic Yield From Genomic Sequencing.
Journal: Neurology. Genetics
Published: December 22, 2025
Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.
Journal: HGG advances
Published: November 19, 2025
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 13, 2025
Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause.
Journal: Molecular genetics and metabolism reports
Published: February 13, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Journal: HGG advances
Published: January 29, 2025
Last Updated: 09/26/2026