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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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Collaborations and top research areas from the last five years
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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 journal › Article › peer-review
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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 proceeding › Chapter › peer-review
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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, , 22 Feb 2024, In: JAMA Network Open. 7, 2, e240146.Research output: Contribution to journal › Article › peer-review
Open Access25 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, , 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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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 journal › Article › peer-review
Open Access44 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 journal › Article › peer-review
Open Access10 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, , 1 Oct 2020, In: Genetics in Medicine. 22, 10, p. 1703-1709 7 p.Research output: Contribution to journal › Article › peer-review
Open Access6 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 journal › Article › peer-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 journal › Article › peer-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 journal › Article › peer-review
7 Scopus citations