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Daphna Marom

Doctor

2000 …2026

Research activity per year

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  • Diverse Genetic Etiologies of Unilateral Polymicrogyria

    Lai, A., Neil, J. E., Akula, S. K., Amrom, D., Andermann, E., Bergin, A., Caraballo, R., Chen, A. Y., Gaitanis, J., Mochida, G. H., Gotoff, J. M., Kuchukhidze, G., Marom, D., ElAchkar, C. M., Regev, M., Rodan, L. H., Olson, H., Zhang, B., Poduri, A. & Shao, D. D. & 2 others, Walsh, C. A. & Yang, E., May 2026, In: Annals of Neurology. 99, 5, p. 1277-1286 10 p.

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

    Open Access

  • Correction to: De novo variants in ATP2B1 lead to neurodevelopmental delay (The American Journal of Human Genetics, (2022), 109, 5, (944-952), (S0002929722001057), 10.1016/j.ajhg.2022.03.009)

    Rahimi, M. J., Urban, N., Wegler, M., Sticht, H., Schaefer, M., Popp, B., Gaunitz, F., Morleo, M., Nigro, V., Maitz, S., Mancini, G. M. S., Ruivenkamp, C., Suk, E. K., Bartolomaeus, T., Merkenschlager, A., Koboldt, D., Bartholomew, D., Stegmann, A. P. A., Sinnema, M. & Duynisveld, I. & 16 others, Salvarinova, R., Race, S., de Vries, B. B. A., Trimouille, A., Naudion, S., Marom, D., Hamiel, U., Henig, N., Demurger, F., Rahner, N., Bartels, E., Hamm, J. A., Putnam, A. M., Person, R., Jamra, R. A. & Oppermann, H., 4 Dec 2025, In: American Journal of Human Genetics. 112, 12, p. 3046-3047 2 p.

    Research output: Contribution to journal › Comment/debate

    Open Access

  • Deletion of RAI1 noncoding exons 1–2 causes Smith–Magenis syndrome

    Hamiel, U., Kurolap, A., Chai Gadot, C., Mory, A., Bar Shira, A., Baris Feldman, H. & Marom, D., Jun 2025, In: Journal of Genetics. 104, 1, 9.

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

    1 Scopus citations

  • Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome

    Karimi, K., Lichtenstein, Y., Reilly, J., McConkey, H., Relator, R., Levy, M. A., Kerkhof, J., Bouman, A., Symonds, J. D., Ghoumid, J., Smol, T., Clarkson, K., Drazba, K., Louie, R. J., Miranda, V., McCann, C., Motta, J., Lancaster, E., Sallevelt, S. & Sidlow, R. & 28 others, Morrison, J., Hannibal, M., O'Shea, J., Marin, V., Prasad, C., Patel, C., Raskin, S., Maria-Noelia, S. M., Diaz de Bustamante, A., Marom, D., Barkan, T., Keren, B., Poirsier, C., Cohen, L., Colin, E., Gorman, K., Gallant, E., Menke, L. A., Valenzuela Palafoll, I., Hauser, N., Wentzensen, I. M., Rankin, J., Turnpenny, P. D., Campeau, P. M., Balci, T. B., Tedder, M. L., Sadikovic, B. & Weiss, K., 6 Feb 2025, In: American Journal of Human Genetics. 112, 2, p. 414-427 14 p.

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

    Open Access
    6 Scopus citations

  • High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic

    Penn, D., Amir, Y., David, G. B., Kurolap, A., Barel, D., Hamiel, U., Bach, M., Elhanan, E., Barkan, T., Marom, D., Mory, A., Simantov, N., Eshed, G. M., Faust-Socher, A., Livneh, V., Thaler, A., Omer, N., Shiner, T., Giladi, N. & Gurevich, T. & 4 others, Feldman, H. B., Alcalay, R. N., Yaron, Y. & Ponger, P., Nov 2025, In: Movement Disorders Clinical Practice. 12, 11, p. 1811-1820 10 p.

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

    Open Access
    1 Scopus citations
View all 47 Research outputs