Initial sequencing and comparative analysis of the mouse genome RH Waterston, L Pachter Nature 420 (6915), 520-562, 2002 | 7272 | 2002 |
Genome sequence of the Brown Norway rat yields insights into mammalian evolution RA Gibbs, L Pachter Nature 428 (6982), 493-521, 2004 | 2192 | 2004 |
Infernal 1.0: inference of RNA alignments EP Nawrocki, DL Kolbe, SR Eddy Bioinformatics 25 (10), 1335-1337, 2009 | 1273 | 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 | 826 | 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 | 437 | 2010 |
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 | 331 | 2003 |
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 | 204 | 2016 |
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 | 174 | 2003 |
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 | 136 | 2004 |
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 | 111 | 2014 |
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 | 93 | 2014 |
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 | 85 | 2014 |
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 | 65 | 2018 |
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 | 63 | 2016 |
Fast filtering for RNA homology search DL Kolbe, SR Eddy Bioinformatics 27 (22), 3102-3109, 2011 | 45 | 2011 |
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 | 40 | 2017 |
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 | 38 | 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 | 35 | 2012 |
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 | 27 | 2019 |
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 | 26 | 2016 |