Publications by authors named "Runjun D Kumar"

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Real-world effects of using gnomAD 4.1.0 and All of Us population reference data sets on reporting of variants of uncertain significance.
Runjun D Kumar, Sarah A Paolucci, Brittany Williams, Daniel W Serber, Claire L Wittowski

Genet Med· December 2025

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Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.
Yong-Han Hank Cheng, Adriana E Sedeño-Cortés, Jane E Ranchalis, Katherine M Munson, Mitchell R Vollger, Runjun D Kumar

medRxiv· November 2025

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Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes across Adult and Pediatric Cancer Cohorts.
Mohammad K Eldomery, Karissa M Dieseldorff Jones, Maria Namwanje, Runjun D Kumar, Jiaming Li

medRxiv· November 2025

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Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.
Ange-Line Bruel, Anneke T Vulto-vanSilfhout, Frédéric Bilan, Gwenaël Le Guyader, Brigitte Gilbert-Dussardier, Runjun D Kumar

Eur J Hum Genet· July 2025

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Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation.
Min Seon Park, Runjun D Kumar, Cristian Ovadiuc, Andrew Folta, Abbye E McEwen

Am J Hum Genet· June 2025

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Genomic Data and Privacy.
Candace T Myers, Runjun D Kumar, Lisa Pilgram, Luca Bonomi, Mara Thomas

Clin Chem· January 2025

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Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation.
Min Seon Park, Runjun D Kumar, Cristian Ovadiuc, Andrew Folta, Abbye E McEwen

medRxiv· January 2025

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Brain abscesses, neutropenia, and B-ALL: Multiple testing modalities required to confirm PDCD10 and ETV6 dual diagnoses.
Runjun D Kumar, Liesbeth Vossaert, Weimin Bi, Nichole Owen, Rachel E Rau

Cancer Genet· November 2024

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Clinical genome sequencing: Three years' experience at a tertiary children's hospital.
Runjun D Kumar, Lisa F Saba, Haley Streff, Chad A Shaw, Elizabeth Mizerik

Genet Med· October 2023

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Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis.
Runjun D Kumar, Linyan Meng, Pengfei Liu, Christina Y Miyake, Kim C Worley

Am J Med Genet A· November 2022

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The germline p53 activation syndrome: A new patient further refines the clinical phenotype.
Runjun D Kumar, Mustafa Tosur, Seema R Lalani, Donald H Mahoney, Alison A Bertuch

Am J Med Genet A· July 2022

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Selection for or against escape from nonsense mediated decay is a novel signature for the detection of cancer genes.
Runjun D Kumar, Briana A Burns, Paul J Vandeventer, Pamela N Luna, Chad A Shaw

Cancer Genet· November 2021

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A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing.
Runjun D Kumar, Lindsay C Burrage, Jan Bartos, Saima Ali, Eric Schmitt

Mol Genet Metab Rep· March 2021

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A TMPRSS2-ERG gene signature predicts prognosis of patients with prostate adenocarcinoma.
Emily Zhou, Baoyi Zhang, Kenneth Zhu, Evelien Schaafsma, Runjun D Kumar

Clin Transl Med· December 2020

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Facial Nerve Palsy in a Child With Fever of Unknown Origin.
Charmaine P Mutucumarana, Runjun D Kumar, Dana M Foradori, Veena Ramgopal, Gail J Demmler

Clin Pediatr (Phila)· May 2020

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Response of a Metastatic Breast Carcinoma With a Previously Uncharacterized ERBB2 G776V Mutation to Human Epidermal Growth Factor Receptor 2-Targeted Therapy.
Yakov Chudnovsky, Runjun D Kumar, Alexa B Schrock, Caitlin Connelly, Kyle Gowen

JCO Precis Oncol· November 2017

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Prioritizing Potentially Druggable Mutations with dGene: An Annotation Tool for Cancer Genome Sequencing Data.
Runjun D Kumar, Li-Wei Chang, Matthew J Ellis, Ron Bose

PLoS One· October 2017

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Analysis of somatic mutations across the kinome reveals loss-of-function mutations in multiple cancer types.
Runjun D Kumar, Ron Bose

Sci Rep· July 2017

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Unsupervised detection of cancer driver mutations with parsimony-guided learning.
Runjun D Kumar, S Joshua Swamidass, Ron Bose

Nat Genet· October 2016

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Statistically identifying tumor suppressors and oncogenes from pan-cancer genome-sequencing data.
Runjun D Kumar, Adam C Searleman, S Joshua Swamidass, Obi L Griffith, Ron Bose

Bioinformatics· November 2015

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Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Dan E Arking, Sara L Pulit, Lia Crotti, Pim van der Harst, Patricia B Munroe, Meena Kumari, Runjun D Kumar

Nat Genet· August 2014

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DGIdb: mining the druggable genome.
Malachi Griffith, Obi L Griffith, Adam C Coffman, James V Weible, Josh F McMichael, Runjun D Kumar

Nat Methods· December 2013

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