Prof Cynthia Morton

Chair in Auditory Genetics

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Publications

  1. 2021
  2. Accepted/In press

    Tools for standardized data collection: Speech, Language and Hearing measurement protocols in the PhenX Toolkit

    Morton, C., Marazita, M. L., Peter, B., Rice, M., Kraft, S. J., Barkmeier-Kraemer, J., Balaban, C., Phillips, M., Schoden, J., Maiese, D., Hendershot, T. & Hamilton, C. M., 27 Aug 2021, (Accepted/In press) In: Annals of Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  3. Accepted/In press

    Genetics of Childhood Hearing Loss

    Mitchell, C. O. & Morton, C., 4 Aug 2021, (Accepted/In press) In: Otolaryngologic Clinics of North America.

    Research output: Contribution to journalArticlepeer-review

  4. Accepted/In press

    Cochlin Deficiency Protects Against Noise-Induced Hearing Loss

    Seist, R., Landegger, L., Robertson, N. G., Vasilijic, S., Morton, C. & Stankovic, K. M., 16 Apr 2021, (Accepted/In press) In: Frontiers in Molecular Neuroscience.

    Research output: Contribution to journalArticlepeer-review

  5. Accepted/In press

    Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics

    Dong, Z., Chau, M. H. K., Zhang, Y., Yang, Z., Shi, M., Wah, Y. M., Kwok, Y. K., Leung, T. Y., Morton, C. & Choy, K. W., 1 Feb 2021, (Accepted/In press) In: Genetics in Medicine.

    Research output: Contribution to journalArticlepeer-review

  6. E-pub ahead of print

    A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

    Hirsch, Y., Tangshewinsirikul, C., Booth, K. T., Azaiez, H., Yefet, D., Quint, A., Weiden, T., Brownstein, Z., Macarov, M., Davidov, B., Pappas, J., Rabin, R., Kenna, M. A., Oza, A. M., Lafferty, K., Amr, S. S., Rehm, H. L., Kolbe, D. L., Frees, K., Nishimura, C. & 8 others, Luo, M., Farra, C., Morton, C. C., Scher, S. Y., Ekstein, J., Avraham, K. B., Smith, R. J. H. & Shen, J., 4 Jan 2021, (E-pub ahead of print) In: European Journal of Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  7. 2020
  8. Published

    First Report of Bilateral External Auditory Canal Cochlin Aggregates (“Cochlinomas”) with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin

    Basu, A., Boczek, N. J., Robertson, N. G., Nasr, S. H., Jethanamest, D., Mcphail, E. D., Kurtin, P. J., Dasari, S., Butz, M., Morton, C. C., Highsmith, W. E. & Zhou, F., 6 Sep 2020, In: Head and Neck Pathology. 14, 3, p. 808-816

    Research output: Contribution to journalArticlepeer-review

  9. Published

    Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape

    David, D., Freixo, J. P., Fino, J., Carvalho, I., Marques, M., Cardoso, M., Piña-aguilar, R. E. & Morton, C. C., 6 Feb 2020, In: Human Genetics.

    Research output: Contribution to journalArticlepeer-review

  10. Published

    SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility

    Schilit, S. L. P., Menon, S., Friedrich, C., Kammin, T., Wilch, E., Hanscom, C., Jiang, S., Kliesch, S., Talkowski, M. E., Tüttelmann, F., Macqueen, A. J. & Morton, C. C., 1 Jan 2020, In: Am J Hum Genet. 106, 1, p. 41-57

    Research output: Contribution to journalArticlepeer-review

  11. Published

    Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development

    Bademci, G., Abad, C., Cengiz, F. B., Seyhan, S., Incesulu, A., Guo, S., Fitoz, S., Atli, E. I., Gosstola, N. C., Demir, S., Colbert, B. M., Seyhan, G. C., Sineni, C. J., Duman, D., Gurkan, H., Morton, C. C., Dykxhoorn, D. M., Walz, K. & Tekin, M., 2020, In: Journal of Clinical Investigation.

    Research output: Contribution to journalArticlepeer-review

  12. 2019
  13. Published

    Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage

    Dong, Z., Yan, J., Xu, F., Yuan, J., Jiang, H., Wang, H., Chen, H., Zhang, L., Ye, L., Xu, J., Shi, Y., Yang, Z., Cao, Y., Chen, L., Li, Q., Zhao, X., Li, J., Chen, A., Zhang, W., Wong, H. G. & 19 others, Qin, Y., Zhao, H., Chen, Y., Li, P., Ma, T., Wang, W., Kwok, Y. K., Jiang, Y., Pursley, A. N., Chung, J. P. W., Hong, Y., Kristiansen, K., Yang, H., Piña-aguilar, R. E., Leung, T. Y., Cheung, S. W., Morton, C. C., Choy, K. W. & Chen, Z., 1 Dec 2019, In: Am J Hum Genet. 105, 6, p. 1102-1111

    Research output: Contribution to journalArticlepeer-review

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