Local RNA structure alignment with incomplete sequence

Por Kolbe, Diana L., Eddy, Sean R.
Publicado em 2009

Fast filtering for RNA homology search

Por Kolbe, Diana L., Eddy, Sean R.
Publicado em 2011

Infernal 1.0: inference of RNA alignments

Por Nawrocki, Eric P., Kolbe, Diana L., Eddy, Sean R.
Publicado em 2009

Infernal 1.0: inference of RNA alignments

Por Nawrocki, Eric P., Kolbe, Diana L., Eddy, Sean R.
Publicado em 2009

Regulatory Potential Scores From Genome-Wide Three-Way Alignments of Human, Mouse, and Rat

Por Kolbe, Diana, Taylor, James, Elnitski, Laura, Eswara, Pallavi, Li, Jia, Miller, Webb, Hardison, Ross, Chiaromonte, Francesca
Publicado em 2004

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

Por Joshi, Charuta, Kolbe, Diana L., Mansilla, M. Adela, Mason, Sara O., Smith, Richard J. H., Campbell, Colleen A.
Publicado no Biomed Res Int (2016)

Distinguishing Regulatory DNA From Neutral Sites

Por Elnitski, Laura, Hardison, Ross C., Li, Jia, Yang, Shan, Kolbe, Diana, Eswara, Pallavi, O'Connor, Michael J., Schwartz, Scott, Miller, Webb, Chiaromonte, Francesca
Publicado em 2003

Differential Analysis of Ovarian and Endometrial Cancers Identifies a Methylator Phenotype

Por Kolbe, Diana L., DeLoia, Julie A., Porter-Gill, Patricia, Strange, Mary, Petrykowska, Hanna M., Guirguis, Alfred, Krivak, Thomas C., Brody, Lawrence C., Elnitski, Laura
Publicado em 2012

TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss

Por Azaiez, Hela, Booth, Kevin T., Bu, Fengxiao, Huygen, Patrick, Shibata, Seiji, Shearer, A. Eliot, Kolbe, Diana, Meyer, Nicole, Black-Ziegelbein, E. Ann, Smith, Richard J.H.
Publicado no Hum Mutat (2014)

De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss

Por Moteki, Hideaki, Shearer, A Eliot, Izumi, Shuji, Kubota, Yamato, Azaiez, Hela, Booth, Kevin T, Sloan, Christina M, Kolbe, Diana L, Smith, Richard JH, Usami, Shin-ichi
Publicado no Ann Otol Rhinol Laryngol (2015)

USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms

Por Moteki, Hideaki, Yoshimura, Hidekane, Azaiez, Hela, Booth, Kevin T., Shearer, A Eliot, Sloan, Christina M., Kolbe, Diana L., Murata, Toshinori, Smith, Richard J. H., Usami, Shin-ichi
Publicado no Ann Otol Rhinol Laryngol (2015)

Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population

Por Moteki, Hideaki, Azaiez, Hela, Booth, Kevin T, Shearer, A Eliot, Sloan, Christina M, Kolbe, Diana L, Nishio, Shin-ya, Hattori, Mitsuru, Usami, Shin-ichi, Smith, Richard J H
Publicado no Clin Genet (2015)

Rfam: updates to the RNA families database

Por Gardner, Paul P., Daub, Jennifer, Tate, John G., Nawrocki, Eric P., Kolbe, Diana L., Lindgreen, Stinus, Wilkinson, Adam C., Finn, Robert D., Griffiths-Jones, Sam, Eddy, Sean R., Bateman, Alex
Publicado em 2009

Rfam: Wikipedia, clans and the “decimal” release

Por Gardner, Paul P., Daub, Jennifer, Tate, John, Moore, Benjamin L., Osuch, Isabelle H., Griffiths-Jones, Sam, Finn, Robert D., Nawrocki, Eric P., Kolbe, Diana L., Eddy, Sean R., Bateman, Alex
Publicado em 2011

Copy number variants are a common cause of non-syndromic hearing loss

Por Shearer, A Eliot, Kolbe, Diana L, Azaiez, Hela, Sloan, Christina M, Frees, Kathy L, Weaver, Amy E, Clark, Erika T, Nishimura, Carla J, Black-Ziegelbein, E Ann, Smith, Richard J H
Publicado em 2014

Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation

Por Moteki, Hideaki, Azaiez, Hela, Booth, Kevin T, Hattori, Mitsuru, Sato, Ai, Sato, Yoshihiko, Motobayashi, Mitsuo, Sloan, Christina M, Kolbe, Diana L, Shearer, A Eliot, Smith, Richard J H, Usami, Shin-ichi
Publicado no Ann Otol Rhinol Laryngol (2015)

Detection and confirmation of deafness-causing copy number variations in the STRC gene by massively parallel sequencing and comparative genomic hybridization

Por Moteki, Hideaki, Azaiez, Hela, Sloan-Heggen, Christina M, Booth, Kevin, Nishio, Shin-ya, Wakui, Keiko, Yamaguchi, Tomomi, Kolbe, Diana L, Iwasa, Yoh-ichiro, Shearer, A Eliot, Fukushima, Yoshimitsu, Smith, Richard JH, Usami, Shin-ichi
Publicado no Ann Otol Rhinol Laryngol (2016)

Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss

Por Sakuma, Naoko, Moteki, Hideaki, Azaiez, Hela, Booth, Kevin T, Takahashi, Masahiro, Arai, Yasuhiro, Shearer, A Eliot, Sloan, Christina M, Nishio, Shin-ya, Kolbe, Diana L, Iwasaki, Satoshi, Oridate, Nobuhiko, Smith, Richard J H, Usami, Shin-ichi
Publicado no Ann Otol Rhinol Laryngol (2015)

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review

Por Beheshtian, Maryam, Babanejad, Mojgan, Azaiez, Hela, Bazazzadegan, Niloofar, Kolbe, Diana, Sloan-Heggen, Christina, Arzhangi, Sanaz, Booth, Kevin, Mohseni, Marzieh, Frees, Kathy, Hossein Azizi, Mohammad, Daneshi, Ahmad, Farhadi, Mohammad, Kahrizi, Kimia, Smith, Richard JH, Najmabadi, Hossein
Publicado no Arch Iran Med (2016)

Covariation in Frequencies of Substitution, Deletion, Transposition, and Recombination During Eutherian Evolution

Por Hardison, Ross C., Roskin, Krishna M., Yang, Shan, Diekhans, Mark, Kent, W. James, Weber, Ryan, Elnitski, Laura, Li, Jia, O'Connor, Michael, Kolbe, Diana, Schwartz, Scott, Furey, Terrence S., Whelan, Simon, Goldman, Nick, Smit, Arian, Miller, Webb, Chiaromonte, Francesca, Haussler, David
Publicado em 2003