Last Updated: 09/26/2026
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Found 52 publications
Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Küry-Isidor Syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: June 04, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Journal: Nature genetics
Published: May 18, 2026
Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing.
Journal: medRxiv : the preprint server for health sciences
Published: May 07, 2026
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.
Journal: medRxiv : the preprint server for health sciences
Published: November 26, 2025
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.
Journal: American journal of human genetics
Published: November 07, 2025
Hospital-wide implementation of inpatient first-tier rapid genome sequencing.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 14, 2025
Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units.
Journal: American journal of medical genetics. Part A
Published: August 24, 2025
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Journal: Nature genetics
Published: August 18, 2025
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Journal: Nature genetics
Published: August 18, 2025
Case Report: An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney disease.
Journal: Frontiers in pediatrics
Published: July 31, 2025
Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders.
Journal: medRxiv : the preprint server for health sciences
Published: April 29, 2025
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.
Journal: Nature
Published: April 24, 2025
Last Updated: 09/26/2026