Diana L Kolbe
Diana L Kolbe
Research Scientist, IIHG, University of Iowa
Verified email at
Cited by
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Initial sequencing and comparative analysis of the mouse genome
European Bioinformatics Institute: Birney Ewan 3 Goldman Nick 3 Kasprzyk ...
Nature 420 (6915), 520-562, 2002
Genome sequence of the Brown Norway rat yields insights into mammalian evolution
University of Utah Weiss Robert B. 14 Dunn Diane M. 14, ...
Nature 428 (6982), 493-521, 2004
Infernal 1.0: inference of RNA alignments
EP Nawrocki, DL Kolbe, SR Eddy
Bioinformatics 25 (10), 1335-1337, 2009
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
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
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, 441-450, 2016
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
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
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
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, 1-10, 2014
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
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
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: JASN 27 (4), 1245, 2016
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
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
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
Fast filtering for RNA homology search
DL Kolbe, SR Eddy
Bioinformatics 27 (22), 3102-3109, 2011
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
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
Comprehensive genetic testing with ethnic‐specific filtering by allele frequency in a Japanese hearing‐loss population
H Moteki, H Azaiez, KT Booth, AE Shearer, CM Sloan, DL Kolbe, S Nishio, ...
Clinical genetics 89 (4), 466-472, 2016
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