Sakkubai Naidu

Professor Emeritus

1978 …2020

Research output per year

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Research Output

Open Access
  • GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

    The Undiagnosed Diseases Network, May 1 2020, In : Genetics in Medicine. 22, 5, p. 878-888 11 p.

    Research output: Contribution to journalArticle

  • Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders

    Fagiolini, M., Patrizi, A., LeBlanc, J., Jin, L. W., Maezawa, I., Sinnett, S., Gray, S. J., Molholm, S., Foxe, J. J., Johnston, M. V., Naidu, S., Blue, M., Hossain, A., Kadam, S., Zhao, X., Chang, Q., Zhou, Z. & Zoghbi, H., 2020, (Accepted/In press) In : Neuroscience.

    Research output: Contribution to journalReview article

  • Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

    Hengel, H., Bosso-Lefèvre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, É., Tan, T. T., Eio, M. Y., Narayanan, G., Utami, K. H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H. M., Gunay-Aygun, M., Muriello, M. J., Verhelst, H., Weckhuysen, S. & 65 others, Mahida, S., Naidu, S., Thomas, T. G., Lim, J. Y., Tan, E. S., Haye, D., Willemsen, M. A. A. P., Oegema, R., Mitchell, W. G., Pierson, T. M., Andrews, M. V., Willing, M. C., Rodan, L. H., Barakat, T. S., van Slegtenhorst, M., Gavrilova, R. H., Martinelli, D., Gilboa, T., Tamim, A. M., Hashem, M. O., AlSayed, M. D., Abdulrahim, M. M., Al-Owain, M., Awaji, A., Mahmoud, A. A. H., Faqeih, E. A., Asmari, A. A., Algain, S. M., Jad, L. A., Aldhalaan, H. M., Helbig, I., Koolen, D. A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A. Y. J., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L. E., Klee, E. W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R., Schüle, R., Ciruna, B., Bonnard, C., Pouladi, M. A., Stewart, J. C., Claridge-Chang, A., Lefeber, D. J., Alkuraya, F. S., Mathuru, A. S., Venkatesh, B., Barycki, J. J., Simpson, M. A., Jamuar, S. S., Schöls, L. & Reversade, B., Dec 1 2020, In : Nature communications. 11, 1, 595.

    Research output: Contribution to journalArticle

    Open Access
  • Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

    Hijazi, H., Coelho, F. S., Gonzaga-Jauregui, C., Bernardini, L., Mar, S. S., Manning, M. A., Hanson-Kahn, A., Naidu, S. B., Srivastava, S., Lee, J. A., Jones, J. R., Friez, M. J., Alberico, T., Torres, B., Fang, P., Cheung, S. W., Song, X., Davis-Williams, A., Jornlin, C., Wight, P. A. & 9 others, Patyal, P., Taube, J., Poretti, A., Inoue, K., Zhang, F., Pehlivan, D., Carvalho, C. M. B., Hobson, G. M. & Lupski, J. R., Jan 1 2020, In : Human mutation. 41, 1, p. 150-168 19 p.

    Research output: Contribution to journalArticle