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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 19, 2023
Clinical genome sequencing: Three years' experience at a tertiary children's hospital
Runjun D Kumar, Lisa F Saba, Haley Streff, et al.
Clinical Chemistry
|
January 3, 2025
Genomic Data and Privacy
Candace T Myers, Runjun D Kumar, Lisa Pilgram, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 3, 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
Runjun D Kumar, Sarah A Paolucci, Brittany Williams, et al.
Cancer Genetics
|
August 23, 2024
Brain abscesses, neutropenia, and B-ALL: Multiple testing modalities required to confirm PDCD10 and ETV6 dual diagnoses
Runjun D Kumar, Liesbeth Vossaert, Weimin Bi, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 25, 2026
Not Forgotten: Patient Experiences with Genetic Variant Reclassifications
Pankhuri Gupta, Min Seon Park, Eric Y Kao, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 20, 2025
Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation
Min Seon Park, Runjun D Kumar, Cristian Ovadiuc, et al.
JCO Precision Oncology
|
February 17, 2022
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, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 3, 2025
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, et al.
American Journal of Human Genetics
|
June 6, 2025
Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation
Min Seon Park, Runjun D Kumar, Cristian Ovadiuc, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 26, 2025
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions
Yong-Han Hank Cheng, Adriana E Sedeño-Cortés, Jane E Ranchalis, et al.
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Search research articles
Search
Showing results (11-20 of 25) with videos related to
Sort By:
Page
of 3
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 19, 2023
Clinical genome sequencing: Three years' experience at a tertiary children's hospital
Runjun D Kumar, Lisa F Saba, Haley Streff, et al.
Clinical Chemistry
|
January 3, 2025
Genomic Data and Privacy
Candace T Myers, Runjun D Kumar, Lisa Pilgram, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 3, 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
Runjun D Kumar, Sarah A Paolucci, Brittany Williams, et al.
Cancer Genetics
|
August 23, 2024
Brain abscesses, neutropenia, and B-ALL: Multiple testing modalities required to confirm PDCD10 and ETV6 dual diagnoses
Runjun D Kumar, Liesbeth Vossaert, Weimin Bi, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 25, 2026
Not Forgotten: Patient Experiences with Genetic Variant Reclassifications
Pankhuri Gupta, Min Seon Park, Eric Y Kao, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 20, 2025
Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation
Min Seon Park, Runjun D Kumar, Cristian Ovadiuc, et al.
JCO Precision Oncology
|
February 17, 2022
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, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 3, 2025
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, et al.
American Journal of Human Genetics
|
June 6, 2025
Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation
Min Seon Park, Runjun D Kumar, Cristian Ovadiuc, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 26, 2025
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions
Yong-Han Hank Cheng, Adriana E Sedeño-Cortés, Jane E Ranchalis, et al.
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of 3