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2019 3
2020 1
2021 2
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A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Pode-Shakked B, Barel O, Singer A, Regev M, Poran H, Eliyahu A, Finezilber Y, Segev M, Berkenstadt M, Yonath H, Reznik-Wolf H, Gazit Y, Chorin O, Heimer G, Gabis LV, Tzadok M, Nissenkorn A, Bar-Yosef O, Zohar-Dayan E, Ben-Zeev B, Mor N, Kol N, Nayshool O, Shimshoviz N, Bar-Joseph I, Marek-Yagel D, Javasky E, Einy R, Gal M, Grinshpun-Cohen J, Shohat M, Dominissini D, Raas-Rothschild A, Rechavi G, Pras E, Greenbaum L. Pode-Shakked B, et al. Among authors: nayshool o. Sci Rep. 2021 Sep 27;11(1):19099. doi: 10.1038/s41598-021-98646-w. Sci Rep. 2021. PMID: 34580403 Free PMC article.
A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.
Marek-Yagel D, Bolkier Y, Barel O, Vardi A, Mishali D, Katz U, Salem Y, Abudi S, Nayshool O, Kol N, Raas-Rothschild A, Rechavi G, Anikster Y, Pode-Shakked B. Marek-Yagel D, et al. Among authors: nayshool o. Am J Med Genet A. 2020 May;182(5):987-993. doi: 10.1002/ajmg.a.61509. Epub 2020 Mar 7. Am J Med Genet A. 2020. PMID: 32144877
High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype.
Goldstein O, Gana-Weisz M, Nefussy B, Vainer B, Nayshool O, Bar-Shira A, Traynor BJ, Drory VE, Orr-Urtreger A. Goldstein O, et al. Among authors: nayshool o. Neurobiol Aging. 2018 Apr;64:160.e1-160.e7. doi: 10.1016/j.neurobiolaging.2017.12.015. Epub 2017 Dec 27. Neurobiol Aging. 2018. PMID: 29352617 Free PMC article.