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20052025

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Dive into the research topics where Arie Koifman is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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  • A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis

    Bratman Morag, S., Itzkovich, C., Kurolap, A., Shohat, M., Durr, A., de Sainte Agathe, J. M., Bertrand, J., Koifman, A., Alkelai, A., Shuldiner, A. R., Mory, A., Harel, T., Mor-Shaked, H., Shalata, A., Paperna, T., Baris Feldman, H., Kakun, R. R., Kornitzer, D., Salzberg, A. & Weiss, K., 1 Nov 2025, In: Genetics in Medicine. 27, 11, 101569.

    Research output: Contribution to journalArticlepeer-review

  • The Genetics of Facial Cleft

    Koifman, A., Blaser, S. & Chitayat, D., 1 Jan 2025, Prenatal Diagnosis of Orofacial Malformations. Springer Science+Business Media, p. 13-21 9 p.

    Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

  • 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, e240146.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    25 Scopus citations
  • 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

  • Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone

    Yogev, Y., Shorer, Z., Koifman, A., Wormser, O., Drabkin, M., Halperin, D., Dolgin, V., Proskorovski-Ohayon, R., Hadar, N., Davidov, G., Nudelman, H., Zarivach, R., Shelef, I., Perez, Y. & Birk, O. S., 14 Feb 2023, In: Proceedings of the National Academy of Sciences of the United States of America. 120, 7, e2217831120.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    44 Scopus citations
  • B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature

    Staretz-Chacham, O., Noyman, I., Wormser, O., Abu Quider, A., Hazan, G., Morag, I., Hadar, N., Raymond, K., Birk, O. S., Ferreira, C. R. & Koifman, A., 1 Jun 2020, In: Clinical Genetics. 97, 6, p. 920-926 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    10 Scopus citations
  • Teaching clinicians practical genomic medicine: 7 years’ experience in a tertiary care center

    Michaelson-Cohen, R., Salzer-Sheelo, L., Sukenik-Halevy, R., Koifman, A., Fellner, A., Reches, A., Marom, D., Behar, D. M., Sofrin-Drucker, E., Zaks-Hoffer, G., Weiss-Hubshmann, M., Oresntein, N., Kropach-Gilad, N., Rhurman-Shahar, N., Averbuch, N. S., Magal, N., Bazak, L., Josefberg, S., Matar, R. & Goldberg, Y. & 3 others, Shohat, M., Basel-Salmon, L. & Maya, I., 1 Oct 2020, In: Genetics in Medicine. 22, 10, p. 1703-1709 7 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    6 Scopus citations
  • Chromosomal microarray findings in pregnancies with an isolated pelvic kidney

    Sagi-Dain, L., Singer, A., Frumkin, A., Shalata, A., Koifman, A., Segel, R., Benyamini, L., Rienstein, S., Kahyat, M., Sharony, R., Maya, I. & Shachar, S. B., 1 Jan 2019, In: Journal of Perinatal Medicine. 47, 1, p. 30-34 5 p.

    Research output: Contribution to journalArticlepeer-review

    9 Scopus citations
  • Microarray analysis in pregnancies with isolated echogenic bowel

    Singer, A., Maya, I., Koifman, A., Nasser Samra, N., Baris, H. N., Falik-Zaccai, T., Ben Shachar, S. & Sagi-Dain, L., 1 Apr 2018, In: Early Human Development. 119, p. 25-28 4 p.

    Research output: Contribution to journalArticlepeer-review

    20 Scopus citations
  • Pregnancy outcomes among patients with recurrent pregnancy loss and chromosomal aberration (CA) without PGD

    Kabessa, M., Harlev, A., Friger, M., Sergienko, R., Litwak, B., Koifman, A., Steiner, N. & Bashiri, A., 25 Sep 2018, In: Journal of Perinatal Medicine. 46, 7, p. 764-770 7 p.

    Research output: Contribution to journalArticlepeer-review

    7 Scopus citations