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Prevalence of high-penetrant copy number variants in 7734 low-risk pregnancies.
Sagi-Dain L, Salzer Sheelo L, Brabbing-Goldstein D, Matar R, Kahana S, Agmon-Fishman I, Klein C, Gurevitch M, Basel-Salmon L, Maya I. Sagi-Dain L, et al. Am J Obstet Gynecol MFM. 2023 Dec;5(12):101201. doi: 10.1016/j.ajogmf.2023.101201. Epub 2023 Oct 21. Am J Obstet Gynecol MFM. 2023. PMID: 37871696
Bayesian-based noninvasive prenatal diagnosis of single-gene disorders.
Rabinowitz T, Polsky A, Golan D, Danilevsky A, Shapira G, Raff C, Basel-Salmon L, Matar RT, Shomron N. Rabinowitz T, et al. Genome Res. 2019 Mar;29(3):428-438. doi: 10.1101/gr.235796.118. Epub 2019 Feb 20. Genome Res. 2019. PMID: 30787035 Free PMC article.
Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies.
Sagi-Dain L, Cohen Vig L, Kahana S, Yacobson S, Tenne T, Agmon-Fishman I, Klein C, Matar R, Basel-Salmon L, Maya I. Sagi-Dain L, et al. Genet Med. 2019 Nov;21(11):2462-2467. doi: 10.1038/s41436-019-0550-x. Epub 2019 May 24. Genet Med. 2019. PMID: 31123319 Free article.
The rare 13q33-q34 microdeletions: eight new patients and review of the literature.
Sagi-Dain L, Goldberg Y, Peleg A, Sukenik-Halevy R, Sofrin-Drucker E, Appelman Z, Josefsberg BYS, Ben-Shachar S, Vinkler C, Basel-Salmon L, Maya I. Sagi-Dain L, et al. Hum Genet. 2019 Oct;138(10):1145-1153. doi: 10.1007/s00439-019-02048-y. Epub 2019 Jul 18. Hum Genet. 2019. PMID: 31321490 Review.
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 DM, Sofrin-Drucker E, Zaks-Hoffer G, Weiss-Hubshmann M, Oresntein N, Kropach-Gilad N, Rhurman-Shahar N, Averbuch NS, Magal N, Bazak L, Josefberg S, Matar R, Goldberg Y, Shohat M, Basel-Salmon L, Maya I. Michaelson-Cohen R, et al. Genet Med. 2020 Oct;22(10):1703-1709. doi: 10.1038/s41436-020-0868-4. Epub 2020 Jul 3. Genet Med. 2020. PMID: 32616942 Free article.
When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation.
Basel-Salmon L, Ruhrman-Shahar N, Orenstein N, Goldberg Y, Gonzaga-Jauregui C, Shuldiner AR, Sukenik-Halevy R, Maya I, Magal N, Hagari O, Azulay N, Lidzbarsky GA, Bazak L. Basel-Salmon L, et al. Genet Med. 2021 Jan;23(1):215-221. doi: 10.1038/s41436-020-00938-5. Epub 2020 Aug 17. Genet Med. 2021. PMID: 32801363 Free article.
83 results