متابعة
Diana L Kolbe
Diana L Kolbe
Research Scientist, IIHG, University of Iowa
بريد إلكتروني تم التحقق منه على uiowa.edu
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
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
85372002
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
25142004
Infernal 1.0: inference of RNA alignments
EP Nawrocki, DL Kolbe, SR Eddy
Bioinformatics 25 (10), 1335-1337, 2009
15532009
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
9772009
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
4892016
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
4732010
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
3572003
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
2282018
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
1792014
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
1742003
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
1412004
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
1192014
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
1102014
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
1092016
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
1032019
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
912017
Fast filtering for RNA homology search
DL Kolbe, SR Eddy
Bioinformatics 27 (22), 3102-3109, 2011
652011
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
512016
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
462012
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
422016
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مقالات 1–20