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Benjamin Darbro
Benjamin Darbro
Verified email at uiowa.edu
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ...
Genome biology 15, 1-18, 2014
1202014
Promoting improved utilization of laboratory testing through changes in an electronic medical record: experience at an academic medical center
MD Krasowski, D Chudzik, A Dolezal, B Steussy, MP Gailey, B Koch, ...
BMC medical informatics and decision making 15, 1-10, 2015
1122015
Development and translational imaging of a TP53 porcine tumorigenesis model
JC Sieren, DK Meyerholz, XJ Wang, BT Davis, JD Newell, E Hammond, ...
The Journal of clinical investigation 124 (9), 4052-4066, 2014
1062014
Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction
LP Sowers, L Loo, Y Wu, E Campbell, JD Ulrich, S Wu, L Paemka, ...
Molecular psychiatry 18 (10), 1077-1089, 2013
1022013
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase
L Paemka, VB Mahajan, SN Ehaideb, JM Skeie, MC Tan, S Wu, AJ Cox, ...
PLoS genetics 11 (3), e1005022, 2015
812015
Eating disorder predisposition is associated with ESRRA and HDAC4 mutations
H Cui, J Moore, SS Ashimi, BL Mason, JN Drawbridge, S Han, B Hing, ...
The Journal of clinical investigation 123 (11), 2013
802013
The heritability of hemolysis in stored human red blood cells
TJ Van't Erve, BA Wagner, SM Martin, CM Knudson, R Blendowski, ...
Transfusion 55 (6), 1178-1185, 2015
792015
A gene implicated in activation of retinoic acid receptor targets is a novel renal agenesis gene in humans
PD Brophy, M Rasmussen, M Parida, G Bonde, BW Darbro, X Hong, ...
Genetics 207 (1), 215-228, 2017
772017
Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)
AJ Cox, BW Darbro, RM Laxer, G Velez, X Bing, AL Finer, A Erives, ...
PloS one 12 (3), e0169687, 2017
732017
A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction
JM Hildebrand, M Kauppi, IJ Majewski, Z Liu, AJ Cox, S Miyake, EJ Petrie, ...
Nature communications 11 (1), 3150, 2020
702020
Lactobacillus delbrueckii as the Cause of Urinary Tract Infection
BW Darbro, BK Petroelje, GV Doern
Journal of clinical microbiology 47 (1), 275-277, 2009
662009
Heritability of glutathione and related metabolites in stored red blood cells
TJ van‘t Erve, CM Doskey, BA Wagner, JR Hess, BW Darbro, ...
Free Radical Biology and Medicine 76, 107-113, 2014
642014
Mutations of the sonic hedgehog pathway underlie hypothalamic hamartoma with gelastic epilepsy
MS Hildebrand, NG Griffin, JA Damiano, EJ Cops, R Burgess, E Ozturk, ...
The American Journal of Human Genetics 99 (2), 423-429, 2016
622016
The heritability of metabolite concentrations in stored human red blood cells
TJ van't Erve, BA Wagner, SM Martin, CM Knudson, R Blendowski, ...
Transfusion 54 (8), 2055-2063, 2014
592014
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders
L Paemka, VB Mahajan, JM Skeie, LP Sowers, SN Ehaideb, ...
PloS one 8 (12), e80737, 2013
492013
Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy–Walker Malformation and Occipital Cephaloceles
BW Darbro, VB Mahajan, L Gakhar, JM Skeie, E Campbell, S Wu, X Bing, ...
Human mutation 34 (8), 1075-1079, 2013
482013
Co-regulation of p16INK4A and migratory genes in culture conditions that lead to premature senescence in human keratinocytes
BW Darbro, GB Schneider, AJ Klingelhutz
Journal of investigative dermatology 125 (3), 499-509, 2005
462005
A porcine model of neurofibromatosis type 1 that mimics the human disease
KA White, VJ Swier, JT Cain, JL Kohlmeyer, DK Meyerholz, MR Tanas, ...
JCI insight 3 (12), 2018
452018
Gene expression signatures identify novel therapeutics for metastatic pancreatic neuroendocrine tumors
AT Scott, M Weitz, PJ Breheny, PH Ear, B Darbro, BJ Brown, TA Braun, ...
Clinical cancer research 26 (8), 2011-2021, 2020
442020
Autism linked to increased oncogene mutations but decreased cancer rate
BW Darbro, R Singh, MB Zimmerman, VB Mahajan, AG Bassuk
PLoS One 11 (3), e0149041, 2016
432016
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