Publications by authors named "Diana L Kolbe"

25Publications

Insights into the Biology of Hearing and Deafness Revealed by Single-Cell RNA Sequencing.

Cell Rep 2019 03;26(11):3160-3171.e3

Interdisciplinary Graduate Program in Molecular & Cellular Biology, University of Iowa Graduate College, University of Iowa, Iowa City, IA 52242, USA; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; Department of Otolaryngology, Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2019.02.053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424336PMC
March 2019

Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots.

Otolaryngol Head Neck Surg 2018 12 28;159(6):1058-1060. Epub 2018 Aug 28.

Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1177/0194599818797291DOI Listing
December 2018

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

Biomed Res Int 2016 8;2016:6421039. Epub 2016 May 8.

Iowa Institute of Human Genetics, University of Iowa, Carver College of Medicine, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1155/2016/6421039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4875968PMC
March 2017

Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency.

Brain Dev 2016 Oct 25;38(9):848-51. Epub 2016 Apr 25.

Iowa Institute of Human Genetics, University of Iowa, Carver College of Medicine, Iowa City, IA, United States.

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http://dx.doi.org/10.1016/j.braindev.2016.04.004DOI Listing
October 2016

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Hum Genet 2016 Apr 11;135(4):441-450. Epub 2016 Mar 11.

Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA, 52242, USA.

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http://dx.doi.org/10.1007/s00439-016-1648-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4796320PMC
April 2016

Audioprofile Surfaces: The 21st Century Audiogram.

Ann Otol Rhinol Laryngol 2016 May 3;125(5):361-8. Epub 2015 Nov 3.

Department of Electrical and Computer Engineering, University of Iowa, Iowa City, Iowa, USA Center for Bioinformatics and Computational Biology, University of Iowa, Iowa City, Iowa, USA Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1177/0003489415614863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821702PMC
May 2016

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.

J Am Soc Nephrol 2016 Apr 17;27(4):1245-53. Epub 2015 Aug 17.

Molecular Otolaryngology and Renal Research Laboratories, Iowa Institute of Human Genetics, Division of Nephrology, Department of Internal Medicine and Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, Iowa

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http://dx.doi.org/10.1681/ASN.2015040385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4814193PMC
April 2016

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

Ann Otol Rhinol Laryngol 2015 May 19;124 Suppl 1:169S-76S. Epub 2015 Mar 19.

Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan

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http://dx.doi.org/10.1177/0003489415575042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441833PMC
May 2015

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

Ann Otol Rhinol Laryngol 2015 May 18;124 Suppl 1:184S-92S. Epub 2015 Mar 18.

Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan

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http://journals.sagepub.com/doi/10.1177/0003489415575041
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http://dx.doi.org/10.1177/0003489415575041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441868PMC
May 2015

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

Ann Otol Rhinol Laryngol 2015 May 18;124 Suppl 1:177S-83S. Epub 2015 Mar 18.

Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan

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http://dx.doi.org/10.1177/0003489415575045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441871PMC
May 2015

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

Ann Otol Rhinol Laryngol 2015 May 5;124 Suppl 1:123S-8S. Epub 2015 Mar 5.

Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan

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http://dx.doi.org/10.1177/0003489415574070DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441826PMC
May 2015

Cordova: web-based management of genetic variation data.

Bioinformatics 2014 Dec 14;30(23):3438-9. Epub 2014 Aug 14.

Department of Biomedical Engineering, Department of Ophthalmology and Visual Sciences, Department of Electrical and Computer Engineering, Department of Otolaryngology-Head & Neck Surgery, Carver College of Medicine, Department of Molecular Physiology & Biophysics, Carver College of Medicine, Interdisciplinary Graduate Program in Genetics and Iowa Institute for Human Genetics, Carver College of Medicine, The University of Iowa, Iowa City, IA 52242, USA.

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http://bioinformatics.oxfordjournals.org/content/early/2014/
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http://bioinformatics.oxfordjournals.org/cgi/doi/10.1093/bio
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http://dx.doi.org/10.1093/bioinformatics/btu539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296146PMC
December 2014

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

Genome Med 2014 22;6(5):37. Epub 2014 May 22.

Department of Otolaryngology - Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA ; Iowa Institute of Human Genetics, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA ; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa 52242, USA.

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http://dx.doi.org/10.1186/gm554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067994PMC
June 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Differential analysis of ovarian and endometrial cancers identifies a methylator phenotype.

PLoS One 2012 5;7(3):e32941. Epub 2012 Mar 5.

DIR/GTB Genomic Functional Analysis Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0032941PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3293923PMC
July 2012

Fast filtering for RNA homology search.

Bioinformatics 2011 Nov 28;27(22):3102-9. Epub 2011 Sep 28.

Janelia Farm Research Campus, Howard Hughes Medical Institute, Ashburn, VA 20147, USA.

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http://dx.doi.org/10.1093/bioinformatics/btr545DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208395PMC
November 2011

Rfam: Wikipedia, clans and the "decimal" release.

Nucleic Acids Res 2011 Jan 9;39(Database issue):D141-5. Epub 2010 Nov 9.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA0, USA.

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http://dx.doi.org/10.1093/nar/gkq1129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3013711PMC
January 2011

Infernal 1.0: inference of RNA alignments.

Bioinformatics 2009 May 23;25(10):1335-7. Epub 2009 Mar 23.

HHMI Janelia Farm Research Campus, Ashburn, VA 20147, USA.

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http://dx.doi.org/10.1093/bioinformatics/btp157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2732312PMC
May 2009

Local RNA structure alignment with incomplete sequence.

Bioinformatics 2009 May 20;25(10):1236-43. Epub 2009 Mar 20.

HHMI Janelia Farm Research Campus, Ashburn, VA 20147, USA.

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http://dx.doi.org/10.1093/bioinformatics/btp154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2677745PMC
May 2009

Rfam: updates to the RNA families database.

Nucleic Acids Res 2009 Jan 25;37(Database issue):D136-40. Epub 2008 Oct 25.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, CB10 1SA, UK.

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http://dx.doi.org/10.1093/nar/gkn766DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2686503PMC
January 2009

Initial sequencing and comparative analysis of the mouse genome.

Authors:
Robert H Waterston Kerstin Lindblad-Toh Ewan Birney Jane Rogers Josep F Abril Pankaj Agarwal Richa Agarwala Rachel Ainscough Marina Alexandersson Peter An Stylianos E Antonarakis John Attwood Robert Baertsch Jonathon Bailey Karen Barlow Stephan Beck Eric Berry Bruce Birren Toby Bloom Peer Bork Marc Botcherby Nicolas Bray Michael R Brent Daniel G Brown Stephen D Brown Carol Bult John Burton Jonathan Butler Robert D Campbell Piero Carninci Simon Cawley Francesca Chiaromonte Asif T Chinwalla Deanna M Church Michele Clamp Christopher Clee Francis S Collins Lisa L Cook Richard R Copley Alan Coulson Olivier Couronne James Cuff Val Curwen Tim Cutts Mark Daly Robert David Joy Davies Kimberly D Delehaunty Justin Deri Emmanouil T Dermitzakis Colin Dewey Nicholas J Dickens Mark Diekhans Sheila Dodge Inna Dubchak Diane M Dunn Sean R Eddy Laura Elnitski Richard D Emes Pallavi Eswara Eduardo Eyras Adam Felsenfeld Ginger A Fewell Paul Flicek Karen Foley Wayne N Frankel Lucinda A Fulton Robert S Fulton Terrence S Furey Diane Gage Richard A Gibbs Gustavo Glusman Sante Gnerre Nick Goldman Leo Goodstadt Darren Grafham Tina A Graves Eric D Green Simon Gregory Roderic Guigó Mark Guyer Ross C Hardison David Haussler Yoshihide Hayashizaki LaDeana W Hillier Angela Hinrichs Wratko Hlavina Timothy Holzer Fan Hsu Axin Hua Tim Hubbard Adrienne Hunt Ian Jackson David B Jaffe L Steven Johnson Matthew Jones Thomas A Jones Ann Joy Michael Kamal Elinor K Karlsson Donna Karolchik Arkadiusz Kasprzyk Jun Kawai Evan Keibler Cristyn Kells W James Kent Andrew Kirby Diana L Kolbe Ian Korf Raju S Kucherlapati Edward J Kulbokas David Kulp Tom Landers J P Leger Steven Leonard Ivica Letunic Rosie Levine Jia Li Ming Li Christine Lloyd Susan Lucas Bin Ma Donna R Maglott Elaine R Mardis Lucy Matthews Evan Mauceli John H Mayer Megan McCarthy W Richard McCombie Stuart McLaren Kirsten McLay John D McPherson Jim Meldrim Beverley Meredith Jill P Mesirov Webb Miller Tracie L Miner Emmanuel Mongin Kate T Montgomery Michael Morgan Richard Mott James C Mullikin Donna M Muzny William E Nash Joanne O Nelson Michael N Nhan Robert Nicol Zemin Ning Chad Nusbaum Michael J O'Connor Yasushi Okazaki Karen Oliver Emma Overton-Larty Lior Pachter Genís Parra Kymberlie H Pepin Jane Peterson Pavel Pevzner Robert Plumb Craig S Pohl Alex Poliakov Tracy C Ponce Chris P Ponting Simon Potter Michael Quail Alexandre Reymond Bruce A Roe Krishna M Roskin Edward M Rubin Alistair G Rust Ralph Santos Victor Sapojnikov Brian Schultz Jörg Schultz Matthias S Schwartz Scott Schwartz Carol Scott Steven Seaman Steve Searle Ted Sharpe Andrew Sheridan Ratna Shownkeen Sarah Sims Jonathan B Singer Guy Slater Arian Smit Douglas R Smith Brian Spencer Arne Stabenau Nicole Stange-Thomann Charles Sugnet Mikita Suyama Glenn Tesler Johanna Thompson David Torrents Evanne Trevaskis John Tromp Catherine Ucla Abel Ureta-Vidal Jade P Vinson Andrew C Von Niederhausern Claire M Wade Melanie Wall Ryan J Weber Robert B Weiss Michael C Wendl Anthony P West Kris Wetterstrand Raymond Wheeler Simon Whelan Jamey Wierzbowski David Willey Sophie Williams Richard K Wilson Eitan Winter Kim C Worley Dudley Wyman Shan Yang Shiaw-Pyng Yang Evgeny M Zdobnov Michael C Zody Eric S Lander

Nature 2002 Dec;420(6915):520-62

Genome Sequencing Center, Washington University School of Medicine, Campus Box 8501, 4444 Forest Park Avenue, St Louis, Missouri 63108, USA.

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http://dx.doi.org/10.1038/nature01262DOI Listing
December 2002