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Karin Weiss

Dr.

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 https://orcid.org/0000-0003-0998-810X
    20062025

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    • A family with an atypical presentation of TBX3-related disorder

      Osman, K., Asaly, A., Halloun, R., Paperna, T., Pollack, S., Magen, D., Tiosano, D. & Weiss, K., Feb 2025, In: European Journal of Medical Genetics. 73, 104994.

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

      Open Access

    • 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

    • Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues

      Angel, M., Kleinberg, Y., Newaz, T., Li, V., Zaid, R., Oved, K., Dorot, O., Pichinuk, E., Avitan-Hersh, E., Saada, A., Weiss, K., Zaremberg, V., Tal, G. & Zalckvar, E., Dec 2025, In: Orphanet Journal of Rare Diseases. 20, 1, 195.

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

      Open Access

    • BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

      University of Washington Center for Mendelian Genomics (UW-CMG), C4RCD Research Group & Telethon Undiagnosed Disease Program (TUDP), 2024, (Accepted/In press) In: European Journal of Human Genetics.

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

      Open Access

    • National Rapid Genome Sequencing in Neonatal Intensive Care

      Marom, D., Mory, A., Reytan-Miron, S., Amir, Y., Kurolap, A., Cohen, J. G., Morhi, Y., Smolkin, T., Cohen, L., Zangen, S., Shalata, A., Riskin, A., Peleg, A., Lavie-Nevo, K., Mandel, D., Chervinsky, E., Fisch, C. F., Sheffer, V. F., Falik-Zaccai, T. C. & Rips, J. & 28 others, Shlomai, N. O., Friedman, S. E., Shporen, C. H., Ben-Yehoshua, S. J., Simmonds, A., Yaacobi, R. G., Bauer-Rusek, S., Omari, H., Weiss, K., Hochwald, O., Koifman, A., Globus, O., Batzir, N. A., Yaron, N., Segel, R., Morag, I., Reish, O., Eliyahu, A., Leibovitch, L., Schwartz, M. E., Abramsky, R., Hochberg, A., Oron, A., Banne, E., Portnov, I., Samra, N. N., Singer, A. & Feldman, H. B., 1 Aug 2024, In: Obstetrical and Gynecological Survey. 79, 8, p. 452-454 3 p.

      Research output: Contribution to journal › Comment/debate

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