E. Black-Ziegelbein

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

Diana L. Kolbe, Hela Azaiez, Sean S. Ephraim, 2016, Human Genetics.

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

T. Casavant, D. Kolbe, T. Braun, 2018, American journal of human genetics.

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

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Prediction of cochlear implant performance by genetic mutation: The spiral ganglion hypothesis

Adam P. DeLuca, S. Scherer, T. Casavant, 2012, Hearing Research.

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

D. Kolbe, M. Schnieders, Yingyue Li, 2016, Journal of the American Society of Nephrology : JASN.

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

Christina M. Sloan, Amy E. Weaver, D. Kolbe, 2014, Genome Medicine.

Advancing genetic testing for deafness with genomic technology

Adam P. DeLuca, Christina M. Sloan, T. Casavant, 2013, Journal of Medical Genetics.

TBC1D24 Mutation Causes Autosomal‐Dominant Nonsyndromic Hearing Loss

D. Kolbe, Richard J. H. Smith, P. Huygen, 2014, Human mutation.