Nara Sobreira

Assistant Professor

20062020

Research output per year

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Research Output

KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations

Al Dhaheri, N., Wu, N., Zhao, S., Wu, Z., Blank, R. D., Zhang, J., Raggio, C., Halanski, M., Shen, J., Noonan, K., Qiu, G., Nemeth, B., Sund, S., Dunwoodie, S. L., Chapman, G., Glurich, I., Steiner, R. D., Wohler, E., Martin, R., Sobreira, N. L. & 1 others, Giampietro, P. F., Jul 1 2020, In : American Journal of Medical Genetics, Part A. 182, 7, p. 1664-1672 9 p.

Research output: Contribution to journalArticle

  • Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Undiagnosed Diseases Network, Care4Rare Canada Consortium, Jul 1 2020, In : Genetics in Medicine. 22, 7, p. 1215-1226 12 p.

    Research output: Contribution to journalArticle

  • Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

    Carvalho, D. R., Speck-Martins, C. E., Brum, J. M., Ferreira, C. R. & Sobreira, N. L. M., Jul 1 2020, In : American Journal of Medical Genetics, Part A. 182, 7, p. 1796-1800 5 p.

    Research output: Contribution to journalArticle

  • The utility of exome sequencing for fetal pleural effusions

    Jelin, A. C., Sobreira, N., Wohler, E., Solomon, B., Sparks, T., Sagaser, K. G., Forster, K. R., Miller, J., Witmer, P. D., Hamosh, A., Valle, D. & Blakemore, K., Apr 1 2020, In : Prenatal Diagnosis. 40, 5, p. 590-595 6 p.

    Research output: Contribution to journalArticle