Nahid G. Robertson

img_4956RESEARCH SCIENTIST

Brigham & Women’s Hospital, Harvard Medical School
77 Avenue Louis Pasteur,  NRB, 160
Boston, MA  02115
(617) 525-4539
nrobertson@research.bwh.harvard.edu

EDUCATION

1979 – 1983       College of William & Mary, Williamsburg, Virginia
1983 – 1985       University of Virginia School of Medicine, Charlottesville, Virginia

PATENTS ISSUED

  • Compositions to detect lesions associated with hearing loss in the cochlear gene, COCH.  United States 9,394,264. Issued April 18 2006
  • Methods of diagnosis and treatment of Meniere disease.  United States 6,730,475. Issued May 4, 2004

EDITORIAL BOARD

Auris Nasus Larynx

LANGUAGES

English, Persian (Farsi), French, Turkish (Azarbaijani), Latin

HOBBIES & INTERESTS

Middle Eastern & Belly dancing, Poetry, Hiking, Snow-shoeing, Figure-skating

ORIGINAL PUBLICATIONS

  1. Robertson N.G., Pomponio R.J., Mutter G.L., and Morton C.C. Testis-specific expression of the human MYCL2 gene. Nucleic Acids Res. 1991; 19: 3129-37.
  2. Robertson N.G. and Morton C.C. Mapping and characterization of a novel human myc-like (MYCLK1) sequence. Genomics 1992; 13: 449-51.
  3. Robertson N.G., Khetarpal U., Gutiérrez-Espeleta G.A., Bieber F.R., and Morton C.C. Isolation of novel and known genes from a human cochlear cDNA library using subtractive hybridization and differential screening. Genomics 1994; 23: 42-50.
  4. Khetarpal U., Robertson N.G., Bieber F.R., and Morton C.C. Expression and localization of COL2A1 mRNA and type II collagen in human fetal cochlea. Hear. Res. 1994; 79: 59-73.
  5. Skvorak A.B., Robertson N.G., Yin Y., Weremowicz S., Beier D.R., Her H., Beisel K.W., Lynch E.D., Bieber F.R., and Morton C.C. Identification of an ancient conserved gene expressed in the human inner ear: chromosomal mapping of human and mouse antiquitin and analysis of expression. Genomics 1997; 46:191-9.
  6. Robertson N.G., Skvorak A.B., Yin Y., Weremowicz S., Johnson K.R., Kovatch K.A., Battey J.F, Bieber F.R., and Morton C.C. Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate for a deafness disorder, DFNA9. Genomics 1997; 46: 345-54.
  7. Robertson N.G., Lu L., Heller S., Merchant S.N., Eavey R.D., McKenna M., Nadol J.B., Jr., Miyamoto R.T., Linthicum F.H., Jr., Lubianca Neto J.F., Hudspeth A.J., Seidman C.E., Morton C.C, and Seidman J.G. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nature Genet. 1998; 20: 229-303.
  8. de Kok Y.J.M., Bom S.J.H., Brunt T.M., Kemperman M.H., van Beusekom E., van der Velde-Visser S.D., Robertson N.G., Morton C.C., Huygen P.L.M., Verhagen W.I.M., Brunner H.G., Cremers C.W.R.J., and Cremers F.P.M. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. Hum. Mol. Genet. 1999; 8: 361-6.
  9. Skvorak A.B., Weng Z., Yee A.J., Robertson N.G., and Morton C.C. Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness. Hum. Mol.Genet. 1999; 8: 439-52.
  10. Fransen E., Verstreken M., Verhagen W.I.M., Wuyts F.L., Huygen P.L.M., D’Haese P., Robertson N.G., Morton C.C., McGuirt W.T., Smith R.J.H., Declau F., Van de Heyning P.H., and Van Camp G. High prevalence of symptoms of Meniere’s disease in three families with a mutation in the COCH gene. Hum. Mol. Genet. 1999; 8: 1425-1429.
  11. Robertson N.G., Heller S., Lin J.S., Resendes B.L., Weremowicz S., Denis C.S., Bell A.M., Hudspeth A.J., and Morton C.C. A novel conserved cochlear gene, OTOR: identification, expression analysis, and chromosomal mapping. Genomics 2000; 15; 66: 242-48.
  12. Ahituv N., Sobe T., Robertson N.G., Morton C.C., Taggart R.T., and Avraham K.B. Genomic structure of the human unconventional myosin VI gene. Gene 2000; 261: 269-75.
  13. Wayne S., Robertson N.G., DeClau F., Chen N., Verhoeven K., Prasad S., Tranebjarg L., Morton C.C., Ryan A.F., Van Camp G., and Smith R.J. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum. Mol. Genet. 2001; 10: 195-200.
  14. Robertson N.G., Resendes B.L., Lin J.S., Lee C., Aster J.C., Adams J.C., and Morton C.C. Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9. Hum. Mol. Genet. 2001; 10: 2493-500.
  15. Resendes B.L., Robertson N.G., Szustakowski, J.D., Resendes R.J., Weng Z., and Morton C.C. Gene discovery in the auditory system: characterization of additional cochlear-expressed sequences. J. Assoc. Res. Otolaryngol. 2002; 3: 45-53.
  16. Robertson N.G., Hamaker S.A., Patriub V., Aster J.C., and Morton C.C. Processing and secretion of normal and mutated cochlin, the affected protein in the sensorineural deafness and vestibular disorder, DFNA9. J. Med. Genet. 2003; 40: 479-86.
  17. Resendes B.L., Kuo S.F., Robertson N.G., Giersch A.B.S., Honrubia D., Ohara O., Adams J.C., and Morton C.C. Isolation from cochlea of a novel human intronless gene with predominant fetal expression. J. Assoc. Res. Otolaryngol. 2004; 5: 185-202.
  18. Bhattacharya S.K., Rockwood E.J., Smith S.D., Bonilha V.L., Crabb J.S., Kuchtey R.W., Robertson N.G., Peachey N.S., Morton C.C., and Crabb J.W. Proteomics reveal cochlin deposits associated with glaucomatous trabecular meshwork. J. Biol.Chem. 2005; 280: 6080-4.
  19. Kemperman M.H., De Leenheer E.M., Huygen P.L., van Duijnhoven G., Morton C.C., Robertson N.G., Cremers F.P., Kremer H., and Cremers, C.W. Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation. Otol. Neurotol. 2005; 26: 926-33.
  20. Makishima T., Rodriguez C.I., Robertson N.G., Morton C.C., Stewart C.L., and Griffith, A.J. Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder. Hum. Genet. 2005; 118: 292-34.
  21. Street V.A., Kallman, J.C., Robertson N.G., Kuo S.F., Morton C.C., and Phillips J.O. A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation, resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction. Am. J. Med. Genet. 2005; 139: 86-95.
  22. Robertson N.G., Cremers C.W., Huygen P.L., Ikezono T., Krastins B., Kremer H., Kuo S.F., Liberman M.C., Merchant S.N., Miller C.E., Nadol J.B., Jr., Sarracino D.A., Verhagen W.I., and Morton C.C. Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction. Hum. Mol. Genet. 2006; 15: 1071-85.
  23. Sivakumaran T.A., Resendes B.L., Robertson N.G., Giersch A.B.S., and Morton C.C. Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3’ UTR: Expression studies and detection miRNA target sequence. J. Assoc. Res. Otolaryngol. 2006; 7:160-72.
  24. Baek M.J., Park H.M., Johnson J.M., Altuntas C.Z., Jaini R., Thomas D.M., Ball E.J., Robertson N.G., Morton C.C., Hughes G.B., and Tuohy V.K. Increased frequencies of cochlin-specific T cells in patients with autoimmune sensorinerual hearing loss. J. Immunol. 2006; 177: 4203-10.
  25. Robertson N.G., Jones S.M., Sivakumaran T.A., Giersch A.B., Jurado S.A, Call L.M., Miller C.E., Maison S.F., Liberman M.C., Morton C.C. A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction. Hum. Mol. Genet. 2008; 17: 3426-3434.
  26. Jones S.M., Robertson N.G., Given S., Giersch A.B.S., Liberman M.C., Morton C.C. Hearing and vestibular deficits in the Coch-/- null mouse model: Comparison to the CochG88E/G88E mouse and to DFNA9 hearing and balance disorder. Hear. Res. 2011; 272: 42-48.
  27. Cho H.J., Park H.J., Trexler M., Venselaar H., Lee K.Y., Robertson N.G., Baek J.I., Kang B.S., Morton C.C., Vriend G., Patthy L., Kim U.K. A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain. J. Mol. Med. 2012; 90: 1321-31.
  28. Robertson N.G., O’Malley J.T., Ong C.A., Giersch A.B., Shen J., Stankovic K.M., and Morton C.C. Cochlin in normal middle ear and abnormal middle ear deposits in DFNA9 and CochG88E/G88E mice. J. Assoc. Res. Otolaryngol. 2014; 15(6): 961-74.
  29. Bae S.H.*, Robertson N.G.*, Cho H.J., Morton C.C., Jung D.J., Baek J.I., Choi S.Y., Lee J., Lee K.Y., Kim U.K.  *Co-first authors.  Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion and intracellular aggregate formation:  genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.  Hum. Mutat. 2014; 35(12): 1506-13.
  30. Burgess B.J., O’Malley J.T., Kamakura T., Kristiansen K., Robertson N.G., Morton C.C., Nadol J.B. Jr.  Histopathology of the human inner ear in the p.L114P COCH Mutation (DFNA9).  Audiol. Neurootol. 2016; 21(2): 88-97.

 CHAPTERS AND REVIEWS

  1. Robertson N.G. and Morton C.C. Beginning of a molecular era in hearing and deafness. Clin. Genet. 1999; 55: 149-159.
  2. Robertson N.G. and Morton C.C. COCH. In: Willems P.J., editor: Genetic Hearing Loss. New York: Marcel Dekker, Inc., 2004; 329-349.

MEETINGS AND ABSTRACTS

  1. Krauss C.M., Richkind K., Robertson N.G., and Morton C.C.  Use of anonymous DNA sequences previously mapped to 17p to confirm a deletion of 17p13. Presented at the 21st Annual March of Dimes Clinical Genetics Conference, Boston, MA, July 9-12, 1989.
  2. Robertson N.G., Pomponio R.J., Mutter G.L., and Morton C.C.  MYCL2:  An intronless X-linked gene expressed in adult testis.  Am. J. Hum. Genet. 1990; 47: A116.  Presented at the 41st Annual Meeting of the American Society of Human Genetics, Cincinnati, OH, Oct. 16-20, 1990.
  3. Morton C.C. and Robertson N.G.  Isolation and characterization of a novel myc-like (MYCLK1) sequence.  Presented at the 11th International Workshop on Human Gene Mapping, London, England, Aug. 18-22, 1991.
  4. Morton C.C., McAfee M.W., Robertson N.G., and Bieber F.R. Cloning genes involved in hearing from auditory tissues.  Am. J. Hum. Genet. 1991; 49: 6.  Presented at the 8th International Congress of Human Genetics, Washington DC, Oct. 6-11,1991.
  5. Robertson N.G. and Morton C.C.  Isolation and physical mapping of a novel myc-related sequence.  Am. J. Hum. Genet. 1991; 49: 387.  Presented at the 8th International Congress of Human Genetics, Washington, DC, Oct. 6-11, 1991.
  6. Sanak M., M’Rad R., Deschenes G., Zhou J., Morton C.C., Robertson N.G., Heuertz S., Bonaiti-Pellié C., Holvoiet-Vermaut L., Atignac C., Gubler M.-C., Broyer M., Grunfeld J.-P., Tryggvason K., and Hors-Cayla M.-C.  Alport syndrome, genetic study of 31 families. Presented at the 3rd X Chromosome Workshop, Amalfi, Italy, April 3-4, 1992.
  7. Morton C.C., Bieber F.R. Gutiérrez-Espeleta G.A., Khetarpal U., and Robertson N.G. Cloning Genes involved in hearing from a human fetal cochlear cDNA library.  Presented at the 1st Conference on the Molecular Biology of Hearing and Deafness, San Diego, CA, May 1-4, 1992.
  8. Khetarpal U., Robertson N.G., Bieber F.R., and Morton C.C.  Expression of COL1A2 and COL2A1 in second trimester human fetal cochlea.  Am. J. Hum. Genet. 1992; 51: A130.  Presented at the 42nd Annual Meeting of the American Society of Human Genetics, San Francisco, CA, Nov. 9-13, 1992.
  9. Robertson N.G., Bieber F.R., and Morton C.C.  Isolation of genes involved in hearing from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.  Am. J. Hum. Genet. 1993; 53: 652.  Presented at the 43rd Annual Meeting of the American Society of Human Genetics, New Orleans, LA, Oct. 5-9, 1993.
  10. Kovatch K.A., Robertson N.G., Brody T.H., and Morton C.C.  Cloning and characterization of the mouse homolog (D12H14S564E) of a novel human cochlear gene (D14S564E).  Am. J. Hum. Genet. 1994; 55: A268.  Presented at the 44th Annual Meeting of the American Society of Human Genetics, Montreal, Canada, Oct. 18-22,1994.
  11. Robertson N.G., Weremowicz S., Johnson K.R., Kovatch K.A., and Morton C.C.  Mapping of the first preferentially expressed cDNA in human fetal cochlea to human 14q11.2-12 and to a region of homologous synteny on mouse chromosome 12.  Am. J. Hum. Genet. 1994; 55: A134.  Presented at the 44th Annual Meeting of the American Society of Human Genetics, Montreal, Canada, Oct. 18-22,1994.
  12. Robertson N.G., Khetarpal U., Gutiérrez-Espeleta G.A. Bieber F.R., and Morton C.C.  Isolation of genes involved in hearing from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.  Presented at the 3rd Biennial Mammalian Developmental Genetics Workshop, The Jackson Laboratory, Bar Harbor, ME, Sept. 8-12, 1993.
  13. Morton C.C., Bieber F.R., Gutiérrez-Espeleta G.A., Johnson K.R., Kovatch K.A., Khetarpal U., Weremowicz S., Robertson N.G.  Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.  Presented at the 18th Annual Meeting of the Association for Research in Otolaryngology, Tampa, FL, Feb. 5-9, 1995.
  14. Morton C.C., Skvorak A.B., Yin Y., Weremowicz S., Bieber F.R., Robertson N.G.  Cloning genes involved in hearing:  A tissue specific library approach.  Presented at the 2nd Conference on the Molecular Biology of Hearing and Deafness, Washington, D.C., Oct. 6-8, 1995.
  15. Skvorak AB, Robertson N.G., Yin Y., Weremowicz S., Bieber F.R., Morton C.C.  Identification and characterization of genes expressed in the human fetal cochlea.  Am. J. Hum. Genet. 1995; 57: A151. Presented at the 45th Annual Meeting of Human Genetics, Minneapolis, MN, Oct. 24-28, 1995.
  16. Skvorak A.B., Robertson N.G., Yin Y., Weremowicz S., Bieber F.R.,  Beier D.R., Beisel K.W., Morton C.C.  Characterization and fine mapping of antiquitin, a gene highly expressed in human fetal cochlea.  Am. J. Hum. Genet. 1996; 59:  A54.  Presented a the 46th Annual Meeting of the American Society of Human Genetics, San Francisco, CA, Oct. 29-Nov. 2, 1996.
  17. Morton C.C., Robertson N.G., Lennon G.G., Skvorak A.B.  Human fetal cochlea expressed sequence tags:  identification of possible positional candidate genes.  Am. J. Hum. Genet. 1996; 59: A160.  Presented at the 46th Annual Meeting of the American Society of Human Genetics, San Francisco, CA, Oct. 29-Nov. 2, 1996.
  18. Robertson N.G., Skvorak A.B., Heller S., Yin Y., Nguhen T., Weremowicz S., Kovatch K.A., Battey J.F., Bieber F.R., Hudspeth A.J., Morton C.C.  Characterization of a novel cochlear gene in human, mouse and chicken:  a positional candidate gene for the human deafness disorder, DFNA9.  Am. J. Hum. Genet. 1997; 61: A181.  Presented at the 47th Annual Meeting of the American Society of Human Genetics, Baltimore, MD, Oct. 28-Nov. 1, 1997.
  19. Skvorak A.B., Robertson N.G., Weremowicz S., Lynch E.D., Morton C.C.  An ancient conserved gene expressed in the human inner ear:  mapping of antiquitin and four antiquitin-like loci.  Am. J. Hum. Genet. 1997; 61: A183.  Presented at the 47th Annual Meeting of the American Society of Human Genetics, Baltimore, MD, Oct. 28-Nov. 1, 1997.
  20. Robertson N.G.,  Lu L.,  Heller S.,  Merchant S.N.,  Eavey R.D.,  McKenna M.,  Nadol J.B., Jr.,  Miyamoto R.T.,  Linthicum F.H., Jr.,  Lubianca Neto J.F., Hudspeth A.J., Seidman C.E., Morton C.C., Seidman J.G.  Mutations in a novel cochlear gene COCH5B2 cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.  Presented at the 3rd Conference on the Molecular Biology of Hearing and Deafness, Bethesda, MD, Oct. 8-11, 1998.
  21. Robertson N.G., Lu L.,  Heller S.,  Merchant S.N.,  Eavey R.D.,  McKenna M.,  Nadol J.B., Jr.,  Miyamoto R.T.,  Linthicum F.H., Jr.,  Lubianca Neto J.F.,  Hudspeth A.J.,  Seidman C.E., Morton C.C. Seidman J.G.  Mutations in a novel cochlear gene COCH5B2 cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.  Am. J. Hum. Genet. 1998; 63: A52.  Presented at the 48th Annual Meeting of the American Society of Human Genetics, Denver, CO, Oct. 27-31, 1998.
  22. Robertson N.G., Lin J.S., Lee C., Rehm H.L., Shahsafaei A., Aster J.C., Morton C.C.  Protein expression of COCH, the DFNA9 sensorineural deafness gene, in human fetal cochlea and vestibule.  Am. J. Hum. Genet. 1999; 65: A487.  Presented at the 49th Annual Meeting of the American Society of Human Genetics, San Francisco, CA, Oct. 19-23, 1999.
  23. Robertson N.G., Lin J.S., Lee C. , Rehm H.L., Aster J.C., Adams J.C., Morton C.C. Localization in human cochlea and vestibule of the cochlin protein, mutated in DFNA9 sensorineural deafness.  Presented at the 23rd Annual Meeting of the Association for Research in Otolaryngology, St. Petersburg Beach, FL, Feb. 20-24, 2000.
  24. Robertson N.G., Heller S., Lin J.S., Resendes B.L., Weremowicz S., Denis C.S., Bell A.M., Hudspeth A.J., Morton C.C.  A novel conserved cochlear gene, OTOR: identification, expression analysis, and chromosomal mapping.  Am. J. Hum. Genet. 2000; 67: 176.  Presented at the 50th Annual Meeting of the American Society of Human Genetics, Philadelphia, PA, Oct. 3-7, 2000.
  25. Resendes B.L., Robertson N.G., Szustakowski J.D., Resendes R.J., Weng Z., Morton C.C.  Characterization of additional cochlear ESTs for gene discovery in the auditory system.  Am. J. Hum. Genet. 2000; 67: 384.  Presented at the 50th Annual Meeting of the American Society of Human Genetics, Philadelphia, PA, Oct. 3-7, 2000.
  26. Robertson N.G., Lin J.S., Heller S., Resendes B.L., Weremowicz S., Kristiansen A.G., McKenna M., Adams J.C., Morton C.C.  Characterization of a novel cochlear gene, OTOR, homologous to CDRAP/MIA, and localization of its encoded protein, otoraplin.  Presented at the 24th Annual Meeting of the Association for Research in Otolaryngology, St. Petersburg Beach, FL, Feb. 4-8, 2001.
  27. Robertson N.G., Resendes B.L., Lin J.S., Lee C., Aster J.C., Adams J.C., and Morton C.C.  Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9.  Presented at the 4th Conference on the Molecular Biology of Hearing and Deafness, Bethesda, MD, Oct. 4-7, 2001.
  28. Robertson N.G., Resendes B.L., Lin J.S., Lee C., Aster J.C., Adams J.C., and Morton C.C.  Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9.  Am. J. Hum. Genet. 2001; 69: 336.  Presented at the 51st Annual Meeting of the American Society of Human Genetics, San Diego, CA, Oct. 12-16, 2001.
  29. Robertson N.G., Patriub V., Hamaker S.A., Aster J.C., and Morton C.C.  Secretion and subcellular localization of wild-type cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.  Am. J. Hum. Genet. 2002; 71:512.  Presented at the 52nd Annual Meeting of the American Society of Human Genetics, Baltimore, MD, Oct. 15-19, 2002.
  30. Robertson N.G., Hamaker S.A., Patriub V., Aster J.C., and Morton C.C.  Processing and secretion of normal and mutated cochlin, the affected protein in the sensorineural deafness and vestibular disorder, DFNA9.  Presented at the 26th  Annual Meeting of the Association for Research in Otolaryngology, Daytona  Beach, FL, Feb. 22-27, 2003.
  31. Morton C.C., Robertson N.G., Resendes B.L., Giersch A.B.S.  Gene discovery in the auditory system using a tissue-specific approach.  Presented at the 33rd Annual March of Dimes Clinical Genetics Conference, American College of Medical Genetics, San Diego, CA, March 13-16, 2003.
  32. Robertson N.G., Sivakumaran T.A., Hamaker S.A., Morton C.C.  Development of a Coch “knock-in” mouse model for DFNA9.  Presented at the 5th Conference on the Molecular Biology of Hearing and Deafness, Bethesda, MD, Sept. 30-Oct. 3, 2004.
  33. Robertson N.G., Sivakumaran T.A., Hamaker S.A., Morton C.C.  Development of a Coch “knock-in” mouse model for DFNA9.  Presented at the 28th Annual Meeting of the Association for Research in Otolaryngology, Daytona  Beach, FL, Feb. 21-26, 2005.
  34. Robertson N.G., Sivakumaran T.A., Hamaker S.A., Morton C.C. A Coch “knock-in” mouse model for DFNA9 deafness.  Presented at The Mouse as an Instrument for Ear Research II Meeting, The Jackson Laboratory; Bar Harbor, ME, Oct. 1-4, 2005.
  35. Robertson N.G., Sivakumaran T.A., Hamaker S.A., Morton C.C. A Coch “knock-in” mouse model for DFNA9 deafness.  Am. J. Hum. Genet. 2005 Abstract Book: 360.  Presented at the 54th Annual Meeting of the American Society of Human Genetics, Salt Lake City, UT, Oct. 26-30, 2005.
  36. Street V.A., Kallman J.C., Robertson N.G., Kuo S.F., Morton C.C. and Phillips J.O.  A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation, resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.  Am. J. Hum. Genet. 2005 Abstract Book: 207.  Presented at the 54th Annual Meeting of the American Society of Human Genetics, Salt Lat City, UT, Oct. 26-30, 2005.
  37. Robertson N.G., Sivakumaran T.A., Hamaker S.A., Morton C.C. A Coch knock-in mouse model for late-onset DFNA9 deafness.  Am. J. Hum. Genet. 2006 Abstract Book: 342.  Presented at the 55th Annual Meeting of the American Society of Human Genetics, New Orleans, LA, Oct. 9-13, 2006.
  38. Jones S.M., Mock B.E., Robertson N.G., Morton C.C. Auditory and vestibular function in a mouse model for DFNA9.  Presented at the Annual American Speech-Language-Hearing Association Meeting, Boston, MA, Nov. 15-17, 2007.
  39. Robertson N.G., Jones S.M., Sivakumaran T.A., Giersch A.B.S., Jurado S.A., Liberman M.C., Maison S.F., Miller C.E., Morton C.C. A targeted Coch missense mutation:  a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction. Am. J. Hum. Genet. 2007 Abstract Book.   Presented at the 56th Annual Meeting of the American Society of Human Genetics, San Diego, CA, Oct. 23-28, 2007.
  40. Robertson N.G., Jones S.M., Sivakumaran T.A., Giersch A.B., Jurado S.A, Call L.M., Miller C.E., Maison S.F., Liberman M.C., Morton C.C.  A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction.  Presented at The Mouse as an Instrument for Ear Research III Meeting, The Jackson Laboratory; Bar Harbor, ME, Sept. 18-21, 2008.
  41. Given S.H., Jones S.M., Robertson N.G., Morton C.C.  Minimal loss of auditory and vestibular function in Coch knock-out mice.  Presented at the American Association of Neurology  Meeting, Seatle, WA, Sept. 2008.
  42. Robertson N.G., Jones S.M., Given S., Giersch A.B.S., Morton C.C.  Comparison of hearing and vestibular deficits in the CochG88E/G88E and the Coch-/- mouse models and correlation with DFNA9 hearing and balance disorder.  Am. J. Hum. Genet. 2010 Abstract Book.   Presented at the 59th Annual Meeting of the American Society of Human Genetics, Washington DC, Nov. 2-5, 2010.
  43. Coling D., Robertson N.G., Jamesdaniel S., Giersch A.B.S. , Morton C.C., Salvi R.  Antibody microarray analysis of the CochG88E/G88E mouse model for DFNA9.  Presented at the 34th Annual Meeting of the Association for Research in Otolaryngology, Baltimore, MD, Feb. 19-23, 2011.
  44. Cho H.J., Park H.J., Trexler M., Venselaar H., Lee K.Y, Robertson N.G., Baek J.I., Kang B.S., Morton C.C., Vriend G., Patthy L., Kim U.K.  A novel COCH mutation, P.F527C, associated with autosomal dominant nonsyndromic hearing loss, disrupts the structural stability of the vWFA2 domain.  Presented at the 35th Annual Meeting of the Association for Research in Otolaryngology, San Diego, CA, Feb. 25-29, 2012.
  45. Currall B.B., Robertson N.G., Lindgren A.M., Talkowski M.E., Morton C.C.  Identifying genes associated with hearing loss through chromosomal translocations.  Am. J. Hum. Genet. 2012 Abstract Book.  Presented at the 61st Annual Meeting of the American Society of Human Genetics, San Francisco, CA, Nov. 6-10, 2012.
  46. Giersch A.B.S., Shen J., Robertson N.G., Morton C.C.  Gene expression profiling of young and adult mouse cochlea by RNA-Seq in strains with normal and age-related hearing loss.  Presented at the 36th Annual Meeting of the Association for Research in Otolaryngology, Baltimore, MD, Feb. 16-20, 2013.
  47. Robertson N.G., Ong C., O’Malley J., Giersch A.B.S., Stankovic K., Morton C.C.  Finding of characteristic DFNA9 cochlin-staining eosinophilic deposits in the middle ear: comparison of wild-type (WT), Coch  knock-in (KI) and knock-out (KO) mouse models and DFNA9-affected and unaffected individuals.  Presented at the 36th Annual Meeting of the Association for Research in Otolaryngology, Baltimore, MD, Feb. 16-20, 2013.
  48. Currall B.C., Robertson N.G., Hoyos T., Hickox A. Wong K.E., Liberman M.C., Liao E., Morton C.C.  A balanced chromosome translocation reveals a predicted lipase’s involvement in sensorineural hearing loss.  Presented at the 36th Annual Meeting of the Association for Research in Otolaryngology, Baltimore, MD, Feb. 16-20, 2013.
  49. Giersch A.B.S., Shen J., Robertson N.G., and Morton C.C. Gene expression profiling of young and adult mouse cochlea by RNA-Seq in strains with normal and age-related hearing loss. Presented at the 9th Conference on the Molecular Biology of Hearing and Deafness, Palo Alto, CA, June 22-25, 2013.
  50. Robertson N.G., O’Malley J., Ong C., Giersch A.B.S., Stankovic K., and Morton C.C. Middle ear cochlin immunostaining and histopathological deposits in human DFNA9-affected individuals and Coch knock-in (KI) mouse model. Presented at the 9th Conference on the Molecular Biology of Hearing and Deafness, Palo Alto, CA, June 22-25, 2013.
  51. Currall B.C., Robertson N.G., Hoyos T., Hickox A. Wong K.E., Liberman M.C., Liao E.C., and Morton C.C. A balanced chromosome translocation reveals involvement of a predicted lipase in weight gain, tumor suppression and sensorineural hearing loss. Presented at the 9th Conference on the Molecular Biology of Hearing and Deafness, Palo Alto, CA, June 22-25, 2013.
  52. Giersch A.B.S., Shen J., Robertson N.G., Wong K. E., and Morton C.C. Gene expression profiling of young and adult mouse cochlea by RNA-Seq in strains with normal and age-related hearing loss. Am. J. Hum. Genet. 2013 Abstract Book. Presented at the 62nd Annual Meeting of the American Society of Human Genetics, Boston, MA, Oct. 22-26, 2013.
  53. Currall B.C., Wong K.E., Robertson N.G., Hoyos T., Hickox A. Yin Y., Quade B.J., Liberman M.C., Liao E.C., and Morton C.C. A balanced chromosome translocation reveals involvement of a predicted lipase in weight gain, hearing loss and tumor suppression. Am. J. Hum. Genet. 2013 Abstract Book. Presented at the 62nd Annual Meeting of the American Society of Human Genetics, Boston, MA, Oct. 22-26, 2013.
  54. Currall B.C., Wong K.E., Robertson N.G., Lunardi A., Reschke M., Pandolfi P.P., and Morton C.C. Convergent genomics validates C2orf43 role in prostate cancer. Am. J. Hum. Genet. 2014 Abstract Book. Presented at the 63nd Annual Meeting of the American Society of Human Genetics, San Diego, CA, Oct. 18-22, 2014.
  55. Giersch A.B.S., Shen J., Robertson N.G., Morton C.C. .Gene Expression Profiling of the Aging Mouse Cochlea by RNA-Seq. Presented at the Midwinter Meeting of the Association for Research in Otolaryngology, Baltimore, MD, Feb. 2015.
  56. Girotto G., Scheffer D.I., Morgan A., Vozzi D., Vuckovic D., Rubinato E., Di Stazio M., Muzzi E., Pensiero S., Giersch A.B.S., Shen J., Robertson N.G., Morton C.C., Corey D.P., Gasparini P. NGS revealed PSIP1/LEDGF as a new gene causing sensorineural progressive hearing loss and variable eye phenotypes. Presented at the European Society of Human Genetics Conference, Glasgow Scotland, June 2015.
  57. Giersch A.B.S., Shen J., Robertson N.G., Morton C.C. Gene Expression Profiling of the Aging Mouse Cochlea. Presented at the Molecular Biology of Hearing and Deafness Conference, Wellcome Trust Genome Center, Hinxton UK, May 2016.