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Sakkubai Naidu

Professor Emerita

1978 …2023

Research activity per year

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  • Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

    Mirchi, A., Guay, S. P., Tran, L. T., Wolf, N. I., Vanderver, A., Brais, B., Sylvain, M., Pohl, D., Rossignol, E., Saito, M., Moutton, S., González-Gutiérrez-Solana, L., Thiffault, I., Kruer, M. C., Moron, D. G., Kauffman, M., Goizet, C., Sztriha, L., Glamuzina, E., Melançon, S. B., & 6 othersNaidu, S., Retrouvey, J. M., Lacombe, S., Bernardino-Cuesta, B., De Bie, I. & Bernard, G., Oct 1 2023, In: Journal of medical genetics. 60, 10, p. 1026-1034 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access

  • Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway

    Delanne, J., Lecat, M., Blackburn, P. R., Klee, E. W., Stumpel, C. T. R. M., Stegmann, S., Stevens, S. J. C., Nava, C., Heron, D., Keren, B., Mahida, S., Naidu, S., Babovic-Vuksanovic, D., Herkert, J. C., Torring, P. M., Kibæk, M., De Bie, I., Pfundt, R., Hendriks, Y. M. C., Ousager, L. B., & 15 othersBend, R., Warren, H., Skinner, S. A., Lyons, M. J., Pöe, C., Chevarin, M., Jouan, T., Garde, A., Thomas, Q., Kuentz, P., Tisserant, E., Duffourd, Y., Philippe, C., Faivre, L. & Thauvin-Robinet, C., Jan 2023, In: European Journal of Medical Genetics. 66, 1, 104670.

    Research output: Contribution to journal › Article › peer-review

  • Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., Van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., & 99 othersSébire, G., Lourenço, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Strømme, P., De Grauw, T., Gieruszczak-Bialek, D., Krägeloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., McClintock, W., McEntagart, M., McKenzie, F., Melançon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Özklnay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sønderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., Van De Warrenburg, B. P., Vázquez-López, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., Van Der Knaap, M. S., Vanderver, A., Martos-Moreno, G., Polychronakos, C., Wolf, N. I. & Bernard, G., Feb 1 2021, In: Journal of Clinical Endocrinology and Metabolism. 106, 2, p. E660-E674

    Research output: Contribution to journal › Article › peer-review

    Open Access
    4 Scopus citations

  • Hugo Wolfgang Moser

    Naidu, S. & Moser, A. B., Jan 1 2021, Child Neurology: Its Origins, Founders, Growth and Evolution. Elsevier, p. 821-823 3 p.

    Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum

    Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., Wierenga, K. J., Isidor, B., Piton, A., Faivre, L., Garde, A., Moutton, S., Tran-Mau-Them, F., Denommé-Pichon, A. S., Coubes, C., Larson, A., & 85 othersEsser, M. J., Appendino, J. P., Al-Hertani, W., Gamboni, B., Mampel, A., Mayorga, L., Orsini, A., Bonuccelli, A., Suppiej, A., Van-Gils, J., Vogt, J., Damioli, S., Giordano, L., Moortgat, S., Wirrell, E., Hicks, S., Kini, U., Noble, N., Stewart, H., Asakar, S., Cohen, J. S., Naidu, S. B. R., Collier, A., Brilstra, E. H., Li, M. H., Brew, C., Bigoni, S., Ognibene, D., Ballardini, E., Ruivenkamp, C., Faggioli, R., Afenjar, A., Rodriguez, D., Bick, D., Segal, D., Coman, D., Gunning, B., Devinsky, O., Demmer, L. A., Grebe, T., Pruna, D., Cursio, I., Greenhalgh, L., Graziano, C., Singh, R. R., Cantalupo, G., Willems, M., Yoganathan, S., Góes, F., Leventer, R. J., Colavito, D., Olivotto, S., Scelsa, B., Andrade, A. V., Ratke, K., Tokarz, F., Khan, A. S., Ormieres, C., Benko, W., Keough, K., Keros, S., Hussain, S., Franques, A., Varsalone, F., Grønborg, S., Mignot, C., Heron, D., Nava, C., Isapof, A., Borlot, F., Whitney, R., Ronan, A., Foulds, N., Somorai, M., Brandsema, J., Helbig, K. L., Helbig, I., Ortiz-González, X. R., Dubbs, H., Vitobello, A., Anderson, M., Spadafore, D., Hunt, D., Møller, R. S. & Rubboli, G., Dec 15 2021, In: Neurology: Genetics. 7, 6, e613.

    Research output: Contribution to journal › Article › peer-review

    Open Access
View all 206 Research outputs