Diana L Kolbe
Diana L Kolbe
Research Scientist, IIHG, University of Iowa
Verified email at uiowa.edu
Title
Cited by
Cited by
Year
Initial sequencing and comparative analysis of the mouse genome
RH Waterston, L Pachter
Nature 420 (6915), 520-562, 2002
74102002
Genome sequence of the Brown Norway rat yields insights into mammalian evolution
RA Gibbs, L Pachter
Nature 428 (6982), 493-521, 2004
22302004
Infernal 1.0: inference of RNA alignments
EP Nawrocki, DL Kolbe, SR Eddy
Bioinformatics 25 (10), 1335-1337, 2009
12992009
Rfam: updates to the RNA families database
PP Gardner, J Daub, JG Tate, EP Nawrocki, DL Kolbe, S Lindgreen, ...
Nucleic acids research 37 (suppl_1), D136-D140, 2009
8362009
Rfam: Wikipedia, clans and the “decimal” release
PP Gardner, J Daub, J Tate, BL Moore, IH Osuch, S Griffiths-Jones, ...
Nucleic acids research 39 (suppl_1), D141-D145, 2010
4432010
Covariation in frequencies of substitution, deletion, transposition, and recombination during eutherian evolution
RC Hardison, KM Roskin, S Yang, M Diekhans, WJ Kent, R Weber, ...
Genome research 13 (1), 13-26, 2003
3352003
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
CM Sloan-Heggen, AO Bierer, AE Shearer, DL Kolbe, CJ Nishimura, ...
Human genetics 135 (4), 441-450, 2016
2352016
Distinguishing regulatory DNA from neutral sites
L Elnitski, RC Hardison, J Li, S Yang, D Kolbe, P Eswara, MJ O'Connor, ...
Genome research 13 (1), 64-72, 2003
1762003
Regulatory potential scores from genome-wide three-way alignments of human, mouse, and rat
D Kolbe, J Taylor, L Elnitski, P Eswara, J Li, W Miller, R Hardison, ...
Genome research 14 (4), 700-707, 2004
1362004
Copy number variants are a common cause of non-syndromic hearing loss
AE Shearer, DL Kolbe, H Azaiez, CM Sloan, KL Frees, AE Weaver, ...
Genome medicine 6 (5), 1-10, 2014
1192014
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, WY Timothy, ...
Genome biology 15 (3), 1-18, 2014
982014
TBC1D24 Mutation Causes Autosomal‐Dominant Nonsyndromic Hearing Loss
H Azaiez, KT Booth, F Bu, P Huygen, SB Shibata, AE Shearer, D Kolbe, ...
Human mutation 35 (7), 819-823, 2014
892014
Genomic landscape and mutational signatures of deafness-associated genes
H Azaiez, KT Booth, SS Ephraim, B Crone, EA Black-Ziegelbein, ...
The American Journal of Human Genetics 103 (4), 484-497, 2018
832018
High-throughput genetic testing for thrombotic microangiopathies and C3 glomerulopathies
F Bu, NG Borsa, MB Jones, E Takanami, C Nishimura, JJ Hauer, H Azaiez, ...
Journal of the American Society of Nephrology 27 (4), 1245-1253, 2016
662016
Fast filtering for RNA homology search
DL Kolbe, SR Eddy
Bioinformatics 27 (22), 3102-3109, 2011
472011
DNM1 encephalopathy: a new disease of vesicle fission
S Von Spiczak, KL Helbig, DN Shinde, R Huether, M Pendziwiat, ...
Neurology 89 (4), 385-394, 2017
452017
Reducing the cost of the diagnostic odyssey in early onset epileptic encephalopathies
C Joshi, DL Kolbe, MA Mansilla, SO Mason, RJH Smith, CA Campbell
BioMed research international 2016, 2016
382016
Insights into the biology of hearing and deafness revealed by single-cell RNA sequencing
PT Ranum, AT Goodwin, H Yoshimura, DL Kolbe, WD Walls, JY Koh, ...
Cell reports 26 (11), 3160-3171. e3, 2019
352019
Differential analysis of ovarian and endometrial cancers identifies a methylator phenotype
DL Kolbe, JA DeLoia, P Porter-Gill, M Strange, HM Petrykowska, ...
PLoS One 7 (3), e32941, 2012
352012
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families
K Lebeko, CM Sloan‐Heggen, JJN Noubiap, C Dandara, DL Kolbe, ...
Clinical genetics 90 (3), 288-290, 2016
282016
The system can't perform the operation now. Try again later.
Articles 1–20