| Carrier testing for severe childhood recessive diseases by next-generation sequencing CJ Bell, DL Dinwiddie, NA Miller, SL Hateley, EE Ganusova, J Mudge, ... Science translational medicine 3 (65), 65ra4-65ra4, 2011 | 810 | 2011 |
| Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units CJ Saunders, NA Miller, SE Soden, DL Dinwiddie, A Noll, NA Alnadi, ... Science translational medicine 4 (154), 154ra135-154ra135, 2012 | 655 | 2012 |
| Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations JD Milner, TP Vogel, L Forbes, CA Ma, A Stray-Pedersen, JE Niemela, ... Blood, The Journal of the American Society of Hematology 125 (4), 591-599, 2015 | 525 | 2015 |
| Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders SE Soden, CJ Saunders, LK Willig, EG Farrow, LD Smith, JE Petrikin, ... Science translational medicine 6 (265), 265ra168-265ra168, 2014 | 507 | 2014 |
| An integrated clinico-metabolomic model improves prediction of death in sepsis RJ Langley, EL Tsalik, JC Velkinburgh, SW Glickman, BJ Rice, C Wang, ... Science translational medicine 5 (195), 195ra95-195ra95, 2013 | 451 | 2013 |
| A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases NA Miller, EG Farrow, M Gibson, LK Willig, G Twist, B Yoo, T Marrs, ... Genome medicine 7 (1), 1-16, 2015 | 318 | 2015 |
| Genome Sequencing and Mapping Reveal Loss of Heterozygosity as a Mechanism for Rapid Adaptation in the Vegetable Pathogen Phytophthora capsici KH Lamour, J Mudge, D Gobena, OP Hurtado-Gonzales, J Schmutz, ... Molecular Plant-Microbe Interactions 25 (10), 1350-1360, 2012 | 265 | 2012 |
| Alström Syndrome: Mutation Spectrum of ALMS1 JD Marshall, J Muller, GB Collin, G Milan, SF Kingsmore, D Dinwiddie, ... Human mutation 36 (7), 660-668, 2015 | 135 | 2015 |
| Emergence in late 2020 of multiple lineages of SARS-CoV-2 Spike protein variants affecting amino acid position 677 EB Hodcroft, DB Domman, DJ Snyder, KY Oguntuyo, M Van Diest, ... MedRxiv, 2021 | 120 | 2021 |
| Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences GP Twist, A Gaedigk, NA Miller, EG Farrow, LK Willig, DL Dinwiddie, ... NPJ genomic medicine 1 (1), 1-10, 2016 | 107 | 2016 |
| An integrated transcriptome and expressed variant analysis of sepsis survival and death EL Tsalik, RJ Langley, DL Dinwiddie, NA Miller, B Yoo, ... Genome medicine 6, 1-15, 2014 | 87 | 2014 |
| Anti-inflammatory effect of MUC1 during respiratory syncytial virus infection of lung epithelial cells in vitro Y Li, DL Dinwiddie, KS Harrod, Y Jiang, KC Kim American Journal of Physiology-Lung Cellular and Molecular Physiology 298 (4 …, 2010 | 86 | 2010 |
| Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak–like primary immunodeficiency syndrome R Badolato, A Prandini, S Caracciolo, F Colombo, G Tabellini, ... Blood, The Journal of the American Society of Hematology 119 (13), 3185-3187, 2012 | 80 | 2012 |
| Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome DL Dinwiddie, LD Smith, NA Miller, AM Atherton, EG Farrow, ME Strenk, ... Genomics 102 (3), 148-156, 2013 | 79 | 2013 |
| Defining the relationship between vaginal and urinary microbiomes YM Komesu, DL Dinwiddie, HE Richter, ES Lukacz, VW Sung, ... American journal of obstetrics and gynecology 222 (2), 154. e1-154. e10, 2020 | 76 | 2020 |
| Comprehensive viral enrichment enables sensitive respiratory virus genomic identification and analysis by next generation sequencing BM O'Flaherty, Y Li, Y Tao, CR Paden, K Queen, J Zhang, DL Dinwiddie, ... Genome research 28 (6), 869-877, 2018 | 74 | 2018 |
| The urinary microbiome in women with mixed urinary incontinence compared to similarly aged controls YM Komesu, HE Richter, B Carper, DL Dinwiddie, ES Lukacz, ... International urogynecology journal 29, 1785-1795, 2018 | 64 | 2018 |
| De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies DL Dinwiddie, SE Soden, CJ Saunders, NA Miller, EG Farrow, LD Smith, ... BMC medical genomics 6, 1-6, 2013 | 63 | 2013 |
| Next-generation community genetics for low-and middle-income countries SF Kingsmore, JD Lantos, DL Dinwiddie, NA Miller, SE Soden, EG Farrow, ... Genome medicine 4 (3), 1-8, 2012 | 59 | 2012 |
| Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing SF Kingsmore, DL Dinwiddie, NA Miller, SE Soden, CJ Saunders, ... Expert review of molecular diagnostics 11 (8), 855-868, 2011 | 56 | 2011 |
Stephen F. KingsmoreRady Children's Institute for Genomic MedicineVerified email at rchsd.org
