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

European journal of human genetics : EJHG

Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB, Smith RJH, Shen J.
PMID: 33398081
Eur J Hum Genet. 2021 Jun;29(6):988-997. doi: 10.1038/s41431-020-00790-w. Epub 2021 Jan 04.

Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of identified variants is uncertain or because biallelic pathogenic variants are not identified for presumed autosomal recessive cases. Common synonymous variants...

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Hirsch Y, Tangshewinsirikul C, Booth KT, et al. A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing. Eur J Hum Genet. 2021;29(6):988-997doi: 10.1038/s41431-020-00790-w.
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., Luo, M., Farra, C., Morton, C. C., Scher, S. Y., Ekstein, J., Avraham, K. B., Smith, R. J. H., & Shen, J. (2021). A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing. European journal of human genetics : EJHG, 29(6), 988-997. https://doi.org/10.1038/s41431-020-00790-w
Hirsch, Yoel, et al. "A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing." European journal of human genetics : EJHG vol. 29,6 (2021): 988-997. doi: https://doi.org/10.1038/s41431-020-00790-w
Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB, Smith RJH, Shen J. A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing. Eur J Hum Genet. 2021 Jun;29(6):988-997. doi: 10.1038/s41431-020-00790-w. Epub 2021 Jan 04. PMID: 33398081; PMCID: PMC8187401.
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Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit.

Annals of human genetics

Morton CC, Marazita ML, Peter B, Rice ML, Kraft SJ, Barkmeier-Kraemer J, Balaban C, Phillips M, Schoden J, Maiese D, Hendershot T, Hamilton CM.
PMID: 34582045
Ann Hum Genet. 2022 Jan;86(1):45-51. doi: 10.1111/ahg.12447. Epub 2021 Sep 28.

The PhenX Toolkit (https://www.phenxtoolkit.org/) is an online catalog of recommended measurement protocols to facilitate cross-study analyses for biomedical research. An expert review panel (ERP) reviewed and updated the PhenX Toolkit Speech and Hearing domain to improve the precision and...

Cite
Morton CC, Marazita ML, Peter B, et al. Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit. Ann Hum Genet. 2021;86(1):45-51doi: 10.1111/ahg.12447.
Morton, C. C., Marazita, M. L., Peter, B., Rice, M. L., Kraft, S. J., Barkmeier-Kraemer, J., Balaban, C., Phillips, M., Schoden, J., Maiese, D., Hendershot, T., & Hamilton, C. M. (2022). Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit. Annals of human genetics, 86(1), 45-51. https://doi.org/10.1111/ahg.12447
Morton, Cynthia C, et al. "Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit." Annals of human genetics vol. 86,1 (2022): 45-51. doi: https://doi.org/10.1111/ahg.12447
Morton CC, Marazita ML, Peter B, Rice ML, Kraft SJ, Barkmeier-Kraemer J, Balaban C, Phillips M, Schoden J, Maiese D, Hendershot T, Hamilton CM. Tools for standardized data collection: Speech, Language, and Hearing measurement protocols in the PhenX Toolkit. Ann Hum Genet. 2022 Jan;86(1):45-51. doi: 10.1111/ahg.12447. Epub 2021 Sep 28. PMID: 34582045; PMCID: PMC8725989.
Copy Download .nbib Format: NLM
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