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A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder.
Orenstein N, Goldberg-Stern H, Straussberg R, Bazak L, Weisz Hubshman M, Kropach N, Gilad O, Scheuerman O, Dory Y, Kraus D, Tzur S, Magal N, Kilim Y, Shkalim Zemer V, Basel-Salmon L. Orenstein N, et al. Among authors: basel salmon l. Eur J Paediatr Neurol. 2018 May;22(3):516-524. doi: 10.1016/j.ejpn.2017.12.017. Epub 2017 Dec 30. Eur J Paediatr Neurol. 2018. PMID: 29422393
The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.
Barnes-Kedar I, Bernstein-Molho R, Ginzach N, Hartmajer S, Shapira T, Magal N, Kalis ML, Peretz T, Shohat M, Basel-Salmon L, Friedman E, Bazak L, Goldberg Y. Barnes-Kedar I, et al. Among authors: basel salmon l. Breast Cancer Res Treat. 2018 Nov;172(1):151-157. doi: 10.1007/s10549-018-4887-7. Epub 2018 Jul 16. Breast Cancer Res Treat. 2018. PMID: 30014164
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. Among authors: basel salmon l. 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.
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.
Weisz-Hubshman M, Meirson H, Michaelson-Cohen R, Beeri R, Tzur S, Bormans C, Modai S, Shomron N, Shilon Y, Banne E, Orenstein N, Konen O, Marek-Yagel D, Veber A, Shalva N, Imagawa E, Matsumoto N, Lev D, Lerman Sagie T, Raas-Rothschild A, Ben-Zeev B, Basel-Salmon L, Behar DM, Heimer G. Weisz-Hubshman M, et al. Among authors: basel salmon l. Eur J Paediatr Neurol. 2019 May;23(3):418-426. doi: 10.1016/j.ejpn.2019.02.003. Epub 2019 Feb 19. Eur J Paediatr Neurol. 2019. PMID: 30853297
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. Among authors: basel salmon l. 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.
The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.
Bernstein-Molho R, Barnes-Kedar I, Ludman MD, Reznik G, Feldman HB, Samra NN, Eilat A, Peretz T, Peretz LP, Shapira T, Magal N, Kalis ML, Yerushalmi R, Vinkler C, Liberman S, Basel-Salmon L, Shohat M, Levy-Lahad E, Friedman E, Bazak L, Goldberg Y. Bernstein-Molho R, et al. Among authors: basel salmon l. Breast Cancer Res Treat. 2019 Nov;178(1):231-237. doi: 10.1007/s10549-019-05379-6. Epub 2019 Jul 31. Breast Cancer Res Treat. 2019. PMID: 31368036
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
Bend R, Cohen L, Carter MT, Lyons MJ, Niyazov D, Mikati MA, Rojas SK, Person RE, Si Y, Wentzensen IM; Regeneron Genetics Center; Torti E, Lee JA, Boycott KM, Basel-Salmon L, Ferreira CR, Gonzaga-Jauregui C. Bend R, et al. Among authors: basel salmon l. Eur J Hum Genet. 2020 Jan;28(1):76-87. doi: 10.1038/s41431-019-0487-1. Epub 2019 Aug 8. Eur J Hum Genet. 2020. PMID: 31395947 Free PMC article.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Magini P, et al. Among authors: basel salmon l. Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5. Am J Hum Genet. 2019. PMID: 31495489 Free PMC article.
83 results