Richard J H Smith

Richard J H Smith

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Richard J H Smith

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Gene therapy for hearing loss.

Hum Mol Genet 2019 Oct;28(R1):R65-R79

Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1093/hmg/ddz129DOI Listing
October 2019

The Epidemiology of Deafness.

Cold Spring Harb Perspect Med 2019 Sep 3;9(9). Epub 2019 Sep 3.

Molecular Otolaryngology and Renal Research Laboratories (MORL), Department of Otolaryngology, University of Iowa, Iowa City, Iowa 52242.

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http://dx.doi.org/10.1101/cshperspect.a033258DOI Listing
September 2019

Pediatric Tracheostomy Decannulation: 11-Year Experience.

Otolaryngol Head Neck Surg 2019 Sep 16;161(3):499-506. Epub 2019 Apr 16.

1 Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1177/0194599819842164DOI Listing
September 2019

Structural Insights into Hearing Loss Genetics from Polarizable Protein Repacking.

Biophys J 2019 Aug 3;117(3):602-612. Epub 2019 Jul 3.

Department of Biomedical Engineering, University of Iowa, Iowa City, Iowa; Department of Biochemistry, University of Iowa, Iowa City, Iowa. Electronic address:

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http://dx.doi.org/10.1016/j.bpj.2019.06.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6697528PMC
August 2019

Factor B and C4b2a Autoantibodies in C3 Glomerulopathy.

Front Immunol 2019 4;10:668. Epub 2019 Apr 4.

Molecular Otolaryngology and Renal Research Laboratories, University of Iowa, Iowa City, IA, United States.

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http://dx.doi.org/10.3389/fimmu.2019.00668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460050PMC
April 2019

Targeted Allele Suppression Prevents Progressive Hearing Loss in the Mature Murine Model of Human TMC1 Deafness.

Mol Ther 2019 03 7;27(3):681-690. Epub 2019 Jan 7.

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.ymthe.2018.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6403483PMC
March 2019

C3 glomerulopathy - understanding a rare complement-driven renal disease.

Nat Rev Nephrol 2019 Mar;15(3):129-143

Molecular Otolaryngology and Renal Research Laboratories and the Departments of Internal Medicine and Pediatrics (Divisions of Nephrology), Carver College of Medicine, University of Iowa, Iowa City, IA, USA.

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http://www.nature.com/articles/s41581-018-0107-2
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http://dx.doi.org/10.1038/s41581-018-0107-2DOI Listing
March 2019

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

Cell Rep 2019 Mar;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

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Am J Hum Genet 2018 10 20;103(4):484-497. Epub 2018 Sep 20.

Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; The Interdisciplinary Graduate Program in Molecular Medicine, 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; Medical Scientist Training Program, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA; Iowa Institute of Human Genetics, University of Iowa, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174355PMC
October 2018

The authors reply.

Kidney Int 2018 09;94(3):632-633

Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2018.06.002DOI Listing
September 2018

In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function.

Sci Rep 2018 09 21;8(1):14165. Epub 2018 Sep 21.

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

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http://dx.doi.org/10.1038/s41598-018-32630-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6154996PMC
September 2018

C3 Glomerulopathy: Ten Years' Experience at Mayo Clinic.

Mayo Clin Proc 2018 08;93(8):991-1008

Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. Electronic address:

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http://dx.doi.org/10.1016/j.mayocp.2018.05.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312642PMC
August 2018

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

Otolaryngol Head Neck Surg 2018 Aug 28:194599818797291. Epub 2018 Aug 28.

1 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
August 2018

C3 glomerulopathy associated with monoclonal Ig is a distinct subtype.

Kidney Int 2018 07 3;94(1):178-186. Epub 2018 May 3.

Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2018.01.037DOI Listing
July 2018

Intracellular Regulome Variability Along the Organ of Corti: Evidence, Approaches, Challenges, and Perspective.

Front Genet 2018 8;9:156. Epub 2018 May 8.

Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, United States.

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http://dx.doi.org/10.3389/fgene.2018.00156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5951964PMC
May 2018

Enhanced viral-mediated cochlear gene delivery in adult mice by combining canal fenestration with round window membrane inoculation.

Sci Rep 2018 02 14;8(1):2980. Epub 2018 Feb 14.

Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, 52242, USA.

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http://dx.doi.org/10.1038/s41598-018-21233-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812997PMC
February 2018

C4 Nephritic Factors in C3 Glomerulopathy: A Case Series.

Am J Kidney Dis 2017 Dec 24;70(6):834-843. Epub 2017 Aug 24.

Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA; Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA. Electronic address:

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http://dx.doi.org/10.1053/j.ajkd.2017.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701858PMC
December 2017

C3 glomerulonephritis with a severe crescentic phenotype.

Pediatr Nephrol 2017 09 7;32(9):1625-1633. Epub 2017 Jun 7.

Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

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http://link.springer.com/10.1007/s00467-017-3702-8
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http://dx.doi.org/10.1007/s00467-017-3702-8DOI Listing
September 2017

Intravenous rAAV2/9 injection for murine cochlear gene delivery.

Sci Rep 2017 08 29;7(1):9609. Epub 2017 Aug 29.

Department of Otolaryngology - Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, IA, 52242, USA.

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http://dx.doi.org/10.1038/s41598-017-09805-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5575199PMC
August 2017

Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance.

Hear Res 2017 05 15;348:138-142. Epub 2017 Feb 15.

Department of Otolaryngology-Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA, USA; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA, USA; Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, IA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.heares.2017.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5527292PMC
May 2017

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

Characterization of C3 in C3 glomerulopathy.

Nephrol Dial Transplant 2017 03;32(3):459-465

Molecular Otolaryngology and Renal Research Laboratories, Departments of Internal Medicine and Pediatrics, Division of Nephrology, Carver College of Medicine, Iowa City, IA, USA.

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http://ndt.oxfordjournals.org/content/early/2016/08/08/ndt.g
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http://dx.doi.org/10.1093/ndt/gfw290DOI Listing
March 2017

Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

Kidney Int 2017 03 16;91(3):539-551. Epub 2016 Dec 16.

Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA; Division of Nephrology, Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2016.10.005DOI Listing
March 2017

IgG4-related disease in an adolescent with radiologic-pathologic correlation.

Radiol Case Rep 2017 Mar 7;12(1):196-199. Epub 2016 Dec 7.

Department of Radiology, University of Iowa Hospitals and Clinics, Iowa City, IA.

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http://dx.doi.org/10.1016/j.radcr.2016.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5310240PMC
March 2017

Congenital hearing loss.

Nat Rev Dis Primers 2017 01 12;3:16094. Epub 2017 Jan 12.

Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1038/nrdp.2016.94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675031PMC
January 2017

Navigating genetic diagnostics in patients with hearing loss.

Curr Opin Pediatr 2016 12;28(6):705-712

aMolecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa bDepartment of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine cInterdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1097/MOP.0000000000000410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241053PMC
December 2016

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

Familial C3 glomerulonephritis caused by a novel CFHR5-CFHR2 fusion gene.

Mol Immunol 2016 09 1;77:89-96. Epub 2016 Aug 1.

Molecular Otolaryngology and Renal Research Laboratories, Caver College of Medicine, University of Iowa, Iowa City, IA, USA; Interdepartmental PhD Program in Genetics, Caver College of Medicine, University of Iowa, Iowa City, IA, USA; Departments of Pediatrics and Internal Medicine, Divisions of Nephrology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA; Iowa Institute of Human Genetics, Caver College of Medicine, University of Iowa, Iowa City, IA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.molimm.2016.07.007DOI Listing
September 2016

C4 Glomerulopathy: A Disease Entity Associated With C4d Deposition.

Am J Kidney Dis 2016 Jun 17;67(6):949-53. Epub 2016 Feb 17.

Department of Pathology, Brigham and Women's Hospital, Boston, MA.

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http://dx.doi.org/10.1053/j.ajkd.2016.01.012DOI Listing
June 2016

RNA Interference Prevents Autosomal-Dominant Hearing Loss.

Am J Hum Genet 2016 06 26;98(6):1101-1113. Epub 2016 May 26.

Department of Otolaryngology - Head and Neck Surgery, Carver College of Medicine, 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; Interdisciplinary Graduate Program in Molecular & Cellular Biology, Graduate College, University of Iowa, Iowa City, IA 52242, USA; Iowa Institute of Human Genetics, 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.ajhg.2016.03.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908151PMC
June 2016

Complement inhibition in C3 glomerulopathy.

Semin Immunol 2016 06 9;28(3):241-9. Epub 2016 Jul 9.

Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, USA; Divisions of Nephrology, Stead Family Department of Pediatrics, Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.smim.2016.06.002DOI Listing
June 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

C3 glomerulonephritis and autoimmune disease: more than a fortuitous association?

J Nephrol 2016 Apr 18;29(2):203-209. Epub 2015 Jul 18.

Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street, SW, Rochester, MN, 55905, USA.

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http://dx.doi.org/10.1007/s40620-015-0218-9DOI Listing
April 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

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

PDZD7 and hearing loss: More than just a modifier.

Am J Med Genet A 2015 Dec 29;167A(12):2957-65. Epub 2015 Sep 29.

Department of Otolaryngology-Head Neck Surgery, Molecular Otolaryngology Renal Research Laboratories, University of Iowa, Iowa City, Iowa.

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http://doi.wiley.com/10.1002/ajmg.a.37274
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http://dx.doi.org/10.1002/ajmg.a.37274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741280PMC
December 2015

Overlap of ultrastructural findings in C3 glomerulonephritis and dense deposit disease.

Kidney Int 2015 Dec;88(6):1449-1450

Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.

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http://dx.doi.org/10.1038/ki.2015.313DOI Listing
December 2015

Sensorineural Hearing Loss: A Changing Paradigm for Its Evaluation.

Otolaryngol Head Neck Surg 2015 Nov 27;153(5):843-850. Epub 2015 Jul 27.

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

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http://dx.doi.org/10.1177/0194599815596727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4730883PMC
November 2015

Atypical aHUS: State of the art.

Mol Immunol 2015 Sep 3;67(1):31-42. Epub 2015 Apr 3.

Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, USA; Division of Nephrology, Stead Family Department of Pediatrics, Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.molimm.2015.03.246DOI Listing
September 2015

Compstatin analog Cp40 inhibits complement dysregulation in vitro in C3 glomerulopathy.

Immunobiology 2015 Aug 5;220(8):993-8. Epub 2015 May 5.

Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, IA, USA; Division of Nephrology, Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.imbio.2015.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510458PMC
August 2015

Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care.

Otolaryngol Head Neck Surg 2015 Aug 17;153(2):175-82. Epub 2015 Jun 17.

Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, USA Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, USA

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http://dx.doi.org/10.1177/0194599815591156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743024PMC
August 2015

Soluble c5b-9 as a biomarker for complement activation in atypical hemolytic uremic syndrome.

Am J Kidney Dis 2015 Jun 25;65(6):968-9. Epub 2015 Mar 25.

University of Iowa, Iowa City, Iowa. Electronic address:

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http://dx.doi.org/10.1053/j.ajkd.2015.02.326DOI Listing
June 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

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

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

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

Mutations in LOXHD1 gene cause various types and severities of hearing loss.

Ann Otol Rhinol Laryngol 2015 May 19;124 Suppl 1:135S-41S. Epub 2015 Mar 19.

Department of Otolaryngology, 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/10.1177/0003489415574067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441841PMC
May 2015

Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome.

Blood 2015 Apr 21;125(15):2359-69. Epub 2015 Jan 21.

INSERM UMRS 1138, Cordeliers Research Center, Paris, France; Université Paris Descartes Sorbonne Paris-Cité, Paris, France; Université Pierre et Marie Curie, Paris, France; Assistance Publique-Hôpitaux de Paris, Service d'Immunologie Biologique, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1182/blood-2014-10-609073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392009PMC
April 2015

C3 glomerulonephritis associated with complement factor B mutation.

Am J Kidney Dis 2015 Mar 18;65(3):520-1. Epub 2014 Dec 18.

Mayo Clinic College of Medicine, Rochester, Minnesota.

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http://dx.doi.org/10.1053/j.ajkd.2014.10.023DOI Listing
March 2015

HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.

PLoS Genet 2015 Mar 27;11(3):e1005137. Epub 2015 Mar 27.

Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology University of Iowa, Iowa City, Iowa, United States of America; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4376867PMC
March 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

Defining the complement biomarker profile of C3 glomerulopathy.

Clin J Am Soc Nephrol 2014 Nov 23;9(11):1876-82. Epub 2014 Oct 23.

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

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http://dx.doi.org/10.2215/CJN.01820214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4220750PMC
November 2014

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Am J Hum Genet 2014 Oct 25;95(4):445-53. Epub 2014 Sep 25.

Molecular Otolaryngology & Renal Research Labs, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA; Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA 52242, USA; Department of Molecular Physiology & Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185121PMC
October 2014

Factors influencing treatment of atypical hemolytic uremic syndrome.

Clin J Am Soc Nephrol 2014 Sep 18;9(9):1516-8. Epub 2014 Aug 18.

Molecular Otolaryngology and Renal Research Laboratories, Division of Nephrology, Department of Internal Medicine, and Stead Family Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.2215/CJN.07540714DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152814PMC
September 2014

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

Hum Mutat 2014 Jul 6;35(7):819-23. Epub 2014 May 6.

Molecular Otolaryngology & Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa.

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http://doi.wiley.com/10.1002/humu.22557
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http://dx.doi.org/10.1002/humu.22557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267685PMC
July 2014

C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis.

Semin Thromb Hemost 2014 Jun 5;40(4):465-71. Epub 2014 May 5.

Interdisciplinary PhD Program in Genetics, Carver College of Medicine, University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1055/s-0034-1376334DOI Listing
June 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

Clinical findings, pathology, and outcomes of C3GN after kidney transplantation.

J Am Soc Nephrol 2014 May 19;25(5):1110-7. Epub 2013 Dec 19.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; and

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http://dx.doi.org/10.1681/ASN.2013070715DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4005307PMC
May 2014

Cav3.2 T-type calcium channel is required for the NFAT-dependent Sox9 expression in tracheal cartilage.

Proc Natl Acad Sci U S A 2014 May 28;111(19):E1990-8. Epub 2014 Apr 28.

Institute of Biomedical Sciences, Academia Sinica, Taipei 11529, Taiwan;

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http://dx.doi.org/10.1073/pnas.1323112111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4024911PMC
May 2014

Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.

Otol Neurotol 2014 Mar;35(3):395-400

*Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa, U.S.A.; †Department of Medical Genetics, University of Antwerp, Antwerp, Belgium; and ‡Department of Otorhinolaryngology, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1097/MAO.0000000000000244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3945298PMC
March 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://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

C4 dense-deposit disease.

N Engl J Med 2014 Feb;370(8):784-6

Mayo Clinic, Rochester, MN

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http://dx.doi.org/10.1056/NEJMc1309449DOI Listing
February 2014

Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.

Blood Transfus 2014 Jan 15;12(1):111-3. Epub 2013 Nov 15.

Jane Anne Nohl Division of Hematology, Los Angeles, CA, United States of America.

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http://dx.doi.org/10.2450/2013.0107-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3926711PMC
January 2014

A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome.

Pediatr Nephrol 2013 Nov 24;28(11):2221-5. Epub 2013 Jul 24.

Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, 5270 CBRB Building, Iowa City, IA, 52242, USA.

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http://dx.doi.org/10.1007/s00467-013-2560-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4433496PMC
November 2013

Soluble CR1 therapy improves complement regulation in C3 glomerulopathy.

J Am Soc Nephrol 2013 Nov 1;24(11):1820-9. Epub 2013 Aug 1.

Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, Iowa;

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http://dx.doi.org/10.1681/ASN.2013010045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3810083PMC
November 2013

C3 glomerulonephritis associated with monoclonal gammopathy: a case series.

Am J Kidney Dis 2013 Sep 26;62(3):506-14. Epub 2013 Apr 26.

Department of Internal Medicine, Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1053/j.ajkd.2013.02.370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435575PMC
September 2013

Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.

Clin Dev Immunol 2012 8;2012:370426. Epub 2012 Nov 8.

Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1155/2012/370426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509654PMC
August 2013

Alternative pathway dysfunction in kidney disease: a case report and review of dense deposit disease and C3 glomerulopathy.

Am J Kidney Dis 2013 May 5;61(5):828-31. Epub 2013 Feb 5.

Wake Forest School of Medicine, Winston-Salem, NC, USA.

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http://dx.doi.org/10.1053/j.ajkd.2012.11.045DOI Listing
May 2013

Recent advances in the molecular genetics of epilepsy.

J Med Genet 2013 May 6;50(5):271-9. Epub 2013 Mar 6.

Department of Medicine, Epilepsy Research Centre, University of Melbourne, Melbourne Brain Centre, Austin Health, 275 Burgundy Street, Heidelberg, Victoria 3084, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2012-101448DOI Listing
May 2013

Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement.

Kidney Int 2013 Feb 12;83(2):293-9. Epub 2012 Dec 12.

Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1038/ki.2012.384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3561505PMC
February 2013

CFTR-deficient pigs display peripheral nervous system defects at birth.

Proc Natl Acad Sci U S A 2013 Feb 4;110(8):3083-8. Epub 2013 Feb 4.

Department of Internal Medicine, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1222729110
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http://dx.doi.org/10.1073/pnas.1222729110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581923PMC
February 2013

Genetics: advances in genetic testing for deafness.

Curr Opin Pediatr 2012 Dec;24(6):679-86

Department of Otolaryngology - Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MOP.0b013e3283588f5eDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3694178PMC
December 2012

Flexible models for planning repair of complex tracheal anomalies.

Laryngoscope 2012 Dec;122 Suppl 4:S77

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

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http://dx.doi.org/10.1002/lary.23802DOI Listing
December 2012

Using the phenome and genome to improve genetic diagnosis for deafness.

Otolaryngol Head Neck Surg 2012 Nov 11;147(5):975-7. Epub 2012 Jul 11.

Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.

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http://dx.doi.org/10.1177/0194599812454271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3694170PMC
November 2012

Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment.

BMC Genomics 2012 Nov 14;13:618. Epub 2012 Nov 14.

Department of Otolaryngology - Head & Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.

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http://bmcgenomics.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2164-13-618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534602PMC
November 2012

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.

Am J Med Genet A 2012 Oct 17;158A(10):2485-92. Epub 2012 Aug 17.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.a.35572DOI Listing
October 2012