Sakkubai Naidu

Professor Emeritus

1978 …2019

Research output per year

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Research Output

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

Kim, H. G., Rosenfeld, J. A., Scott, D. A., Bénédicte, G., Labonne, J. D., Brown, J., McGuire, M., Mahida, S., Naidu, S., Gutierrez, J., Lesca, G., Des Portes, V., Bruel, A. L., Sorlin, A., Xia, F., Capri, Y., Muller, E., McKnight, D., Torti, E., Rüschendorf, F. & 8 others, Hummel, O., Islam, Z., Kolatkar, P. R., Layman, L. C., Ryu, D., Kong, I. K., Madan-Khetarpal, S. & Kim, C. H., Oct 22 2019, In : Molecular Autism. 10, 1, 35.

Research output: Contribution to journalArticle

Open Access
  • Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

    Undiagnosed Diseases Network, Jan 3 2019, In : American Journal of Human Genetics. 104, 1, p. 164-178 15 p.

    Research output: Contribution to journalArticle

  • Expansion of the clinical spectrum associated with AARS2-related disorders

    Srivastava, S., Butala, A., Mahida, S., Richter, J., Mu, W., Poretti, A., Vernon, H. J., VanGerpen, J., Atwal, P. S., Middlebrooks, E. H., Zee, D. S. & Naidu, S., Jan 1 2019, In : American Journal of Medical Genetics, Part A.

    Research output: Contribution to journalArticle

  • Mutation update for the SATB2 gene

    Zarate, Y. A., Bosanko, K. A., Caffrey, A. R., Bernstein, J. A., Martin, D. M., Williams, M. S., Berry-Kravis, E. M., Mark, P. R., Manning, M. A., Bhambhani, V., Vargas, M., Seeley, A. H., Estrada-Veras, J. I., van Dooren, M. F., Schwab, M., Vanderver, A., Melis, D., Alsadah, A., Sadler, L., Van Esch, H. & 28 others, Callewaert, B., Oostra, A., Maclean, J., Dentici, M. L., Orlando, V., Lipson, M., Sparagana, S. P., Maarup, T. J., Alsters, S. I. M., Brautbar, A., Kovitch, E., Naidu, S., Lees, M., Smith, D. M., Turner, L., Raggio, V., Spangenberg, L., Garcia-Miñaúr, S., Roeder, E. R., Littlejohn, R. O., Grange, D., Pfotenhauer, J., Jones, M. C., Balasubramanian, M., Martinez-Monseny, A., Blok, L. S., Gavrilova, R. & Fish, J. L., Jan 1 2019, In : Human mutation. 40, 8, p. 1013-1029 17 p.

    Research output: Contribution to journalArticle

  • Are dopamine receptor and transporter changes in Rett syndrome reflected in Mecp2-deficient mice?

    Wong, D. F., Blue, M. E., Brasic, J. R., Nandi, A., Valentine, H., Stansfield, K. H., Rousset, O., Bibat, G. M., Yablonski, M. E., Johnston, M. V., Gjedde, A. & Naidu, S., Sep 1 2018, In : Experimental Neurology. 307, p. 74-81 8 p.

    Research output: Contribution to journalArticle