Diana L Kolbe
Diana L Kolbe
Research Scientist, IIHG, University of Iowa
Verified email at uiowa.edu
TitleCited byYear
Initial sequencing and comparative analysis of the mouse genome
Mouse Genome Sequencing Consortium
Nature 420 (6915), 520, 2002
67592002
Genome sequence of the Brown Norway rat yields insights into mammalian evolution
Rat Genome Sequencing Project Consortium
Nature 428 (6982), 493, 2004
20552004
Infernal 1.0: inference of RNA alignments
EP Nawrocki, DL Kolbe, SR Eddy
Bioinformatics 25 (10), 1335-1337, 2009
11372009
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, 2008
7612008
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
4172010
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
3202003
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
1692003
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
1392004
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
1292016
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), 37, 2014
872014
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), R53, 2014
842014
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
652014
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
512016
Fast filtering for RNA homology search
DL Kolbe, SR Eddy
Bioinformatics 27 (22), 3102-3109, 2011
322011
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
302016
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
262012
Local RNA structure alignment with incomplete sequence
DL Kolbe, SR Eddy
Bioinformatics 25 (10), 1236-1243, 2009
252009
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
192018
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
192017
Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic …
H Moteki, H Azaiez, CM Sloan-Heggen, K Booth, S Nishio, K Wakui, ...
Annals of Otology, Rhinology & Laryngology 125 (11), 918-923, 2016
192016
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