Clinical genome sequencing: three years’ experience at a tertiary children’s hospital RD Kumar, LF Saba, H Streff, CA Shaw, E Mizerik, MT Snyder, ... Genetics in Medicine, 100916, 2023 | 2 | 2023 |
P564: Genetic test stewardship for clinical exome sequencing: Review of critical care orders at Texas Children’s Hospital H Streff, L Saba, R Kumar, D Lopez-Terrada, J Scull Genetics in Medicine Open 1 (1), 2023 | | 2023 |
24. Tissue-based sequencing for laboratory diagnosis of Somatic Mosaic Disorders R Kumar, S Sen, J Reuther, H Voicu, YC Wongworawat, P Mahajan, ... Cancer Genetics 268, 9, 2022 | | 2022 |
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis RD Kumar, L Meng, P Liu, CY Miyake, KC Worley, W Bi, SR Lalani American Journal of Medical Genetics Part A 188 (11), 3184-3190, 2022 | 3 | 2022 |
Seventy Clinical Genomes: Initial Experience from Texas Children's Hospital R Kumar, L Saba, H Streff, D Lopez-Terrada, J Scull JOURNAL OF MOLECULAR DIAGNOSTICS 24 (10), S2-S3, 2022 | | 2022 |
The germline p53 activation syndrome: A new patient further refines the clinical phenotype RD Kumar, M Tosur, SR Lalani, DH Mahoney Jr, AA Bertuch American Journal of Medical Genetics Part A 188 (7), 2204-2208, 2022 | 4 | 2022 |
A case of familial cytopenias and cerebral cavernous malformations presenting with seizures and brain abscesses RD Kumar Association for Molecular Pathology 2021 Digital Experience Case Studies …, 2022 | | 2022 |
Selection for or against escape from nonsense mediated decay is a novel signature for the detection of cancer genes RD Kumar, BA Burns, PJ Vandeventer, PN Luna, CA Shaw Cancer Genetics 258, 2021 Sep 23, 2021 | 1 | 2021 |
A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing RD Kumar, LC Burrage, J Bartos, S Ali, E Schmitt, SCS Nagamani, ... Molecular Genetics and Metabolism Reports 26, 100706, 2021 | 10 | 2021 |
A TMPRSS2‐ERG gene signature predicts prognosis of patients with prostate adenocarcinoma E Zhou, B Zhang, K Zhu, E Schaafsma, RD Kumar, C Cheng Clinical and translational medicine 10 (8), 2020 | 10 | 2020 |
Facial Nerve Palsy in a Child With Fever of Unknown Origin CP Mutucumarana, RD Kumar, DM Foradori, V Ramgopal, GJ Demmler Clinical Pediatrics 59 (4-5), 516-518, 2020 | 1 | 2020 |
The prognostic effects of somatic mutations in ER-positive breast cancer OL Griffith, NC Spies, M Anurag, M Griffith, J Luo, D Tu, B Yeo, J Kunisaki, ... Nature communications 9 (1), 3476, 2018 | 125 | 2018 |
Discerning Drivers of Cancer: Computational Approaches to Somatic Exome Sequencing Data RD Kumar Washington University in St. Louis, 2018 | | 2018 |
Analysis of somatic mutations across the kinome reveals loss-of-function mutations in multiple cancer types RD Kumar, R Bose Scientific reports 7 (1), 6418, 2017 | 12 | 2017 |
Response of a Metastatic Breast Carcinoma With a Previously Uncharacterized ERBB2 G776V Mutation to Human Epidermal Growth Factor Receptor 2–Targeted Therapy Y Chudnovsky, RD Kumar, AB Schrock, C Connelly, K Gowen, ... JCO Precision Oncology 1, 1-9, 2017 | | 2017 |
Unsupervised detection of cancer driver mutations with parsimony-guided learning RD Kumar, SJ Swamidass, R Bose Nature genetics 48 (10), 1288-1294, 2016 | 57 | 2016 |
Statistically identifying tumor suppressors and oncogenes from pan-cancer genome-sequencing data RD Kumar, AC Searleman, SJ Swamidass, OL Griffith, R Bose Bioinformatics 31 (22), 3561-3568, 2015 | 58 | 2015 |
Interaction between fluids and vasoactive agents on mortality in septic shock: a multicenter, observational study J Waechter, A Kumar, SE Lapinsky, J Marshall, P Dodek, Y Arabi, ... Critical care medicine 42 (10), 2158-2168, 2014 | 176 | 2014 |
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization DE Arking, SL Pulit, L Crotti, P Van Der Harst, PB Munroe, TT Koopmann, ... Nature genetics 46 (8), 826-836, 2014 | 321 | 2014 |
Timing of vasopressor initiation and mortality in septic shock: a cohort study V Beck, D Chateau, GL Bryson, A Pisipati, S Zanotti, JE Parrillo, A Kumar, ... Critical care 18, 1-8, 2014 | 177 | 2014 |