|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
|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
|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
|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
|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
|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
|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
|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
|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, ...
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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