Karin Weiss

Dr.

Former affiliations
    • 779
      Citations
    20062024

    Research activity per year

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    • 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 journalArticlepeer-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., Fleisher Sheffer, V., 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. & Baris Feldman, H., 22 Feb 2024, In: JAMA network open. 7, 2, p. e240146

      Research output: Contribution to journalArticlepeer-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 journalComment/debate

    • Rapid exome sequencing for children with severe acute encephalopathy – A case series

      Habib, C., Paperna, T., Zaid, R., Ravid, S., Ben Ari, J., Tal, G., Weiss, K. & Hershkovitz, T., Apr 2024, In: European Journal of Medical Genetics. 68, 104918.

      Research output: Contribution to journalArticlepeer-review

      Open Access
    • Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardia

      Blich, M., Zohar, Y., Cohen-Kaplan, V., Minkov, I., Asleh, R., Horowitz, S., Weiss, K., Paperna, T., Lessick, J., Abadi, S., Khoury, A., Gepstein, L., Suleiman, M. & Caspi, O., Apr 2024, In: PACE - Pacing and Clinical Electrophysiology. 47, 4, p. 503-510 8 p.

      Research output: Contribution to journalArticlepeer-review