Julie Cohen

Director.Asst Professor, Assistant Professor

20072022

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  • ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection

    Thomas, A. X., Link, N., Robak, L. A., Demmler-Harrison, G., Pao, E. C., Squire, A. E., Michels, S., Cohen, J. S., Comi, A., Prontera, P., Verrotti di Pianella, A., Di Cara, G., Garavelli, L., Caraffi, S. G., Fusco, C., Zuntini, R., Parks, K. C., Sherr, E. H., Hashem, M. O., Maddirevula, S., & 8 othersAlkuraya, F. S., Contractar, I. A. F., Neil, J. E., Walsh, C. A., Bellen, H. J., Chao, H. T., Clark, R. D. & Mirzaa, G. M., Aug 2022, In: Annals of Clinical and Translational Neurology. 9, 8, p. 1276-1288 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Kayumi, S., Pérez-Jurado, L. A., Palomares, M., Rangu, S., Sheppard, S. E., Chung, W. K., Kruer, M. C., Kharbanda, M., Amor, D. J., McGillivray, G., Cohen, J. S., García-Miñaúr, S., van Eyk, C. L., Harper, K., Jolly, L. A., Webber, D. L., Barnett, C. P., Santos-Simarro, F., Pacio-Míguez, M., Pozo, A. D., & 55 othersBakhtiari, S., Deardorff, M., Dubbs, H. A., Izumi, K., Grand, K., Gray, C., Mark, P. R., Bhoj, E. J., Li, D., Ortiz-Gonzalez, X. R., Keena, B., Zackai, E. H., Goldberg, E. M., Perez de Nanclares, G., Pereda, A., Llano-Rivas, I., Arroyo, I., Fernández-Cuesta, M. Á., Thauvin-Robinet, C., Faivre, L., Garde, A., Mazel, B., Bruel, A. L., Tress, M. L., Brilstra, E., Fine, A. S., Crompton, K. E., Stegmann, A. P. A., Sinnema, M., Stevens, S. C. J., Nicolai, J., Lesca, G., Lion-François, L., Haye, D., Chatron, N., Piton, A., Nizon, M., Cogne, B., Srivastava, S., Bassetti, J., Muss, C., Gripp, K. W., Procopio, R. A., Millan, F., Morrow, M. M., Assaf, M., Moreno-De-Luca, A., Joss, S., Hamilton, M. J., Bertoli, M., Foulds, N., McKee, S., MacLennan, A. H., Gecz, J. & Corbett, M. A., Nov 2022, In: Genetics in Medicine. 24, 11, p. 2351-2366 16 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis

    Srivastava, S., Lewis, S. A., Cohen, J. S., Zhang, B., Aravamuthan, B. R., Chopra, M., Sahin, M., Kruer, M. C. & Poduri, A., Dec 12 2022, In: JAMA Neurology. 79, 12, p. 1287-1295 9 p.

    Research output: Contribution to journalArticlepeer-review

  • The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

    Undiagnosed Diseases Network, Feb 2022, In: Human mutation. 43, 2, p. 266-282 17 p.

    Research output: Contribution to journalArticlepeer-review

  • Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (Nature Genetics, (2020), 52, 10, (1046-1056), 10.1038/s41588-020-0695-1)

    Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., Nordlie, S. M., Elie, A., Corbett, M. A., Norton, B. Y., van Eyk, C. L., Haider, S., Guida, B. S., Magee, H., Liu, J., Pastore, S., Vincent, J. B., Brunstrom-Hernandez, J., Papavasileiou, A., Fahey, M. C., & 57 othersBerry, J. G., Harper, K., Zhou, C., Zhang, J., Li, B., Zhao, H., Heim, J., Webber, D. L., Frank, M. S. B., Xia, L., Xu, Y., Zhu, D., Zhang, B., Sheth, A. H., Knight, J. R., Castaldi, C., Tikhonova, I. R., López-Giráldez, F., Keren, B., Whalen, S., Buratti, J., Doummar, D., Cho, M., Retterer, K., Millan, F., Wang, Y., Waugh, J. L., Rodan, L., Cohen, J. S., Fatemi, A., Lin, A. E., Phillips, J. P., Feyma, T., MacLennan, S. C., Vaughan, S., Crompton, K. E., Reid, S. M., Reddihough, D. S., Shang, Q., Gao, C., Novak, I., Badawi, N., Wilson, Y. A., McIntyre, S. J., Mane, S. M., Wang, X., Amor, D. J., Zarnescu, D. C., Lu, Q., Xing, Q., Zhu, C., Bilguvar, K., Padilla-Lopez, S., Lifton, R. P., Gecz, J., MacLennan, A. H. & Kruer, M. C., Mar 2021, In: Nature genetics. 53, 3, p. 412 1 p.

    Research output: Contribution to journalComment/debatepeer-review

    Open Access