Michael S Hildebrand

Summary

Affiliation: University of Iowa
Country: USA

Publications

  1. ncbi A novel splice site mutation in EYA4 causes DFNA10 hearing loss
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 143:1599-604. 2007
  2. pmc Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes
    Katherine R Smith
    Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia
    Genome Biol 12:R85. 2011
  3. ncbi Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness
    Michael S Hildebrand
    Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 143:2564-75. 2007
  4. pmc Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    Genet Med 10:797-804. 2008
  5. ncbi Cochlear implants for DFNA17 deafness
    Michael S Hildebrand
    Murdoch Children s Research Institute, Royal Children s Hospital, Melbourne, Australia
    Laryngoscope 116:2211-5. 2006
  6. ncbi Gene expression profiling analysis of the inner ear
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    Hear Res 225:1-10. 2007
  7. doi Advances in molecular and cellular therapies for hearing loss
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Mol Ther 16:224-36. 2008
  8. pmc Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis
    Robert W Eppsteiner
    Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA
    Hear Res 292:51-8. 2012
  9. pmc AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening
    Kyle R Taylor
    Department of Electrical and Computer Engineering, University of Iowa, Iowa City, IA, USA
    Hum Mutat 34:539-45. 2013
  10. pmc A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA
    Laryngoscope 120:2489-93. 2010

Collaborators

Detail Information

Publications31

  1. ncbi A novel splice site mutation in EYA4 causes DFNA10 hearing loss
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 143:1599-604. 2007
    ..Detailed clinical investigation showed differences in the onset and severity of his hearing loss and thus he is presumed to represent a phenocopy, perhaps resulting from long-term exposure to loud noise...
  2. pmc Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes
    Katherine R Smith
    Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia
    Genome Biol 12:R85. 2011
    ..We demonstrate that accurate genetic linkage mapping can be performed using SNP genotypes extracted from exome data, removing the need for separate array-based genotyping. We provide software to facilitate such analyses...
  3. ncbi Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness
    Michael S Hildebrand
    Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 143:2564-75. 2007
    ..Although the causative gene at the MR locus in this family has not been identified, there are a number of genes involved in syndromic and nonsyndromic forms of MR that are potential candidates...
  4. pmc Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    Genet Med 10:797-804. 2008
    ..To address this challenge, we have developed a machine learning-based software tool, AudioGene v2.0, to prioritize candidate genes for mutation screening based on audioprofiling...
  5. ncbi Cochlear implants for DFNA17 deafness
    Michael S Hildebrand
    Murdoch Children s Research Institute, Royal Children s Hospital, Melbourne, Australia
    Laryngoscope 116:2211-5. 2006
    ..Nonsyndromic autosomal-dominant, adult-onset sensorineural hearing loss resulting from DFNA17 was described in a single American kindred in 1997, and the causative gene was subsequently identified as MYH9...
  6. ncbi Gene expression profiling analysis of the inner ear
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    Hear Res 225:1-10. 2007
    ..This approach also provides a framework to assist and direct the functional characterization of gene products...
  7. doi Advances in molecular and cellular therapies for hearing loss
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Mol Ther 16:224-36. 2008
    ..We explore the advantages and limitations associated with the use of these strategies for inner ear restoration...
  8. pmc Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis
    Robert W Eppsteiner
    Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA
    Hear Res 292:51-8. 2012
    ..As a corollary, we hypothesize that because genetic testing can identify sites of cochlear pathology, it may be useful in predicting CI performance...
  9. pmc AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening
    Kyle R Taylor
    Department of Electrical and Computer Engineering, University of Iowa, Iowa City, IA, USA
    Hum Mutat 34:539-45. 2013
    ..As personalized genomic medicine becomes more common, AudioGene will be increasingly useful as a phenotypic filter to assess pathogenicity of variants identified by massively parallel sequencing...
  10. pmc A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA
    Laryngoscope 120:2489-93. 2010
    ..To determine the cause of autosomal dominant hearing loss segregating in an American family...
  11. pmc Advancing genetic testing for deafness with genomic technology
    A Eliot Shearer
    Department of Otolaryngology Head and Neck Surgery, Molecular Otolaryngology and Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA
    J Med Genet 50:627-34. 2013
    ....
  12. pmc Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    Ann Otol Rhinol Laryngol 119:830-5. 2010
    ..We investigated the cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) that segregated in 2 consanguineous Iranian families...
  13. pmc Deafness in the genomics era
    A Eliot Shearer
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    Hear Res 282:1-9. 2011
    ..We review commonly used genomic technologies as well as the application of these technologies to the genetic diagnosis of hereditary hearing loss and to the discovery of novel deafness genes...
  14. pmc Viral vector tropism for supporting cells in the developing murine cochlea
    Abraham M Sheffield
    Department of Otolaryngology, University of Iowa, Iowa City, IA, USA
    Hear Res 277:28-36. 2011
    ..Our results support the use of BAAV for safe and efficient targeting of supporting cell progenitors in the developing murine inner ear...
  15. pmc Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss
    A Eliot Shearer
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Laryngoscope 119:727-33. 2009
    ..To use clinical and genetic analyses to determine the mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL) segregating in two consanguineous Iranian families...
  16. pmc Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)
    Jing Zheng
    Department of Otolaryngology Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA
    Proc Natl Acad Sci U S A 108:4218-23. 2011
    ..In aggregate, these data identify CEACAM16 as an α-tectorin-interacting protein that concentrates at the point of attachment of the TM to the stereocilia and, when mutated, results in ADNSHL at the DFNA4 locus...
  17. ncbi Gene expression changes during step-wise differentiation of embryonic stem cells along the inner ear hair cell pathway
    Michelle G de Silva
    Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, VIC 3052, Australia
    Acta Otolaryngol 126:1148-57. 2006
    ..Our study outlines an alternative approach for the selection and investigation of genes involved in inner ear function...
  18. pmc Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1
    Michael S Hildebrand
    Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA
    Am J Med Genet A 146:2258-65. 2008
    ..R859Q) was identified in the C-terminal domain of the wolframin protein where most LFSNHL-causing mutations cluster. The family member with GD also carried polymorphisms in WFS1 that have been associated with other autoimmune diseases...
  19. ncbi Characterisation of DRASIC in the mouse inner ear
    Michael S Hildebrand
    Department of Gene Identification and Expression, Murdoch Childrens Research Institute, Royal Children s Hospital, Flemington Road, Parkville, VIC 3052, Australia
    Hear Res 190:149-60. 2004
    ..The human homologue of ACCN3, acid-sensing ion channel 3, maps to the same chromosomal region as the autosomal recessive hearing loss locus DFNB13. However, we did not detect mutations in this gene in a family with DFNB13 hearing loss...
  20. pmc miRNA mutations are not a common cause of deafness
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 152:646-52. 2010
    ..These results suggest that mutations disrupting gene regulation by the miR-183 cluster are not a common cause of human hearing loss...
  21. ncbi Expression of the carrier protein apolipoprotein D in the mouse inner ear
    Michael S Hildebrand
    Department of Gene Identification and Expression, Murdoch Childrens Research Institute, Royal Children s Hospital, Flemington Road, Parkville, Melbourne, VIC 3052, Australia
    Hear Res 200:102-14. 2005
    ..The mouse was found to have a hearing threshold that was not significantly different to the control strain...
  22. pmc Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing
    A Eliot Shearer
    Department of Otolaryngology, Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    Proc Natl Acad Sci U S A 107:21104-9. 2010
    ..Massively parallel sequencing technologies provide sensitivity, specificity, and reproducibility at levels sufficient to perform genetic diagnosis of hearing loss...
  23. pmc Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment
    A Eliot Shearer
    Department of Otolaryngology Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
    BMC Genomics 13:618. 2012
    ..Our overall goal was to maximize cost reduction and minimize experimental time while maintaining a high percentage of reads on target and a high depth of coverage at thresholds required for variant detection...
  24. pmc A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse
    Yoko Nakano
    Department of Anatomy and Cell Biology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA
    PLoS Genet 8:e1002966. 2012
    ..Srrm4 is the first alternative-splicing regulator to be associated with hearing, and the analysis of bv mice provides exon-level insights into hair-cell development...
  25. ncbi Clinical aspects of hereditary hearing loss
    Amit Kochhar
    Molecular Otolaryngology Research Laboratories, University of Iowa, Iowa City, Iowa 52242, USA
    Genet Med 9:393-408. 2007
    ..The aim of this review is to provide a comprehensive framework underlying the causes of hearing impairment and to detail the clinical management for patients with hereditary hearing loss...
  26. pmc DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss
    Michael S Hildebrand
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA
    Hum Mutat 32:825-34. 2011
    ..Collectively, our results indicate that DFNA8/12 hearing loss is a frequent type of ADNSHL...
  27. pmc CFTR-deficient pigs display peripheral nervous system defects at birth
    Leah R Reznikov
    Department of Internal Medicine, University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA
    Proc Natl Acad Sci U S A 110:3083-8. 2013
    ..Our data suggest that loss of CFTR directly alters Schwann cell function and that some nervous system defects in people with cystic fibrosis are likely primary...
  28. pmc Solution-based targeted genomic enrichment for precious DNA samples
    Aiden Eliot Shearer
    Department of Otolaryngology Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA
    BMC Biotechnol 12:20. 2012
    ..These protocols could be improved by: 1) modifying or eliminating time consuming steps; 2) increasing yield to reduce input DNA and excessive PCR cycling; and 3) enhancing reproducible...
  29. pmc Survival of partially differentiated mouse embryonic stem cells in the scala media of the guinea pig cochlea
    Michael S Hildebrand
    Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
    J Assoc Res Otolaryngol 6:341-54. 2005
    ..This is the first report of the survival of partially differentiated ES cells in the scala media of the mammalian cochlea, and it provides support for the potential of cell-based therapies for sensorineural hearing impairment...
  30. pmc Genetic male infertility and mutation of CATSPER ion channels
    Michael S Hildebrand
    Department of Internal Medicine, University of Iowa, Iowa City, IA, USA
    Eur J Hum Genet 18:1178-84. 2010
    ..In addition, we discuss clinical management and therapeutic options for these patients. Finally, we describe how the CATSPER channel could be used as a target for development of a male contraceptive...
  31. pmc A catechol-O-methyltransferase that is essential for auditory function in mice and humans
    Xin Du
    Department of Genetics, Institute for Childhood and Neglected Diseases, The Scripps Research Institute, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 105:14609-14. 2008
    ..Our studies identify a previously undescribed COMT gene and indicate an unexpected role for catecholamines in the function of auditory and vestibular sense organs...