Runjun D. Kumar

Pediatrics

325 9th Ave
Seattle, WA 98104

Last Updated: 09/26/2026

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Found 28 publications

Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Küry-Isidor Syndrome.

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

Not Forgotten: Patient Experiences with Genetic Variant Reclassifications.

Not Forgotten: Patient Experiences with Genetic Variant Reclassifications.

Journal: medRxiv : the preprint server for health sciences

Published: May 25, 2026

Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing.

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

Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes across Adult and Pediatric Cancer Cohorts.

Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes across Adult and Pediatric Cancer Cohorts.

Journal: medRxiv : the preprint server for health sciences

Published: December 03, 2025

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.

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.

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.

Journal: American journal of human genetics

Published: November 07, 2025

Real-world effects of using gnomAD 4.1.0 and All of Us population reference data sets on reporting of variants of uncertain significance.

Real-world effects of using gnomAD 4.1.0 and All of Us population reference data sets on reporting of variants of uncertain significance.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 04, 2025

Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation.

Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation.

Journal: medRxiv : the preprint server for health sciences

Published: February 20, 2025

Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation.

Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation.

Journal: American journal of human genetics

Published: January 27, 2025

Genomic Data and Privacy.

Genomic Data and Privacy.

Journal: Clinical chemistry

Published: August 02, 2024

Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.

Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.

Journal: European journal of human genetics : EJHG

Published: June 20, 2024

Brain abscesses, neutropenia, and B-ALL: Multiple testing modalities required to confirm PDCD10 and ETV6 dual diagnoses.

Brain abscesses, neutropenia, and B-ALL: Multiple testing modalities required to confirm PDCD10 and ETV6 dual diagnoses.

Journal: Cancer genetics

Published: May 03, 2024

Showing 1-12 of 28

Last Updated: 09/26/2026