Nara Sobreira

Assistant Professor

20062019

Research output per year

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Research Output

Apparent acetaminophen toxicity in a patient with transaldolase deficiency

Lee-Barber, J., English, T. E., Britton, J. F., Sobreira, N., Goldstein, J., Valle, D. & Bjornsson, H. T., Jan 1 2019, JIMD Reports. Springer, p. 9-15 7 p. (JIMD Reports; vol. 44).

Research output: Chapter in Book/Report/Conference proceedingChapter

  • Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss

    Ramzan, M., Idrees, H., Mujtaba, G., Sobreira, N., Witmer, P. D. & Naz, S., Jul 15 2019, In : Gene. 705, p. 109-112 4 p.

    Research output: Contribution to journalArticle

  • Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

    Rafehi, H., Szmulewicz, D. J., Bennett, M. F., Sobreira, N. L. M., Pope, K., Smith, K. R., Gillies, G., Diakumis, P., Dolzhenko, E., Eberle, M. A., Barcina, M. G., Breen, D. P., Chancellor, A. M., Cremer, P. D., Delatycki, M. B., Fogel, B. L., Hackett, A., Halmagyi, G. M., Kapetanovic, S., Lang, A. & 13 others, Mossman, S., Mu, W., Patrikios, P., Perlman, S. L., Rosemergy, I., Storey, E., Watson, S. R. D., Wilson, M. A., Zee, D. S., Valle, D., Amor, D. J., Bahlo, M. & Lockhart, P. J., Jul 3 2019, In : American journal of human genetics. 105, 1, p. 151-165 15 p.

    Research output: Contribution to journalArticle

    Open Access
  • Insights into genetics, human biology and disease gleaned from family based genomic studies

    Centers for Mendelian Genomics, Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

    Research output: Contribution to journalArticle

  • Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

    Pant, D. C., Dorboz, I., Schluter, A., Fourcade, S., Launay, N., Joya, J., Aguilera-Albesa, S., Yoldi, M. E., Casasnovas, C., Willis, M. J., Ruiz, M., Ville, D., Lesca, G., Siquier-Pernet, K., Desguerre, I., Yan, H., Wang, J., Burmeister, M., Brady, L., Tarnopolsky, M. & 24 others, Cornet, C., Rubbini, D., Terriente, J., James, K. N., Musaev, D., Zaki, M. S., Patterson, M. C., Lanpher, B. C., Klee, E. W., E Vairo, F. P., Wohler, E., Sobreira, N., Cohen, J. S., Maroofian, R., Galehdari, H., Mazaheri, N., Shariati, G., Colleaux, L., Rodriguez, D., Gleeson, J. G., Pujades, C., Fatemi, A., Boespflug-Tanguy, O. & Pujol, A., Mar 1 2019, In : Journal of Clinical Investigation. 129, 3, p. 1240-1256 17 p.

    Research output: Contribution to journalArticle

    Open Access