Shohat M - Search Results

1

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. Among authors: shohat m. 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.

2

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations.

Maya I, Sharony R, Yacobson S, Kahana S, Yeshaya J, Tenne T, Agmon-Fishman I, Cohen-Vig L, Goldberg Y, Berger R, Basel-Salmon L, Shohat M. Maya I, et al. Among authors: shohat m. Genet Med. 2018 Jan;20(1):128-131. doi: 10.1038/gim.2017.89. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726807 Free article.

3

The phenotype of 15 cases with rare 8q24.13-q24.3 deletions-A new syndrome or still an enigma?

Maya I, Kahana S, Agmon-Fishman I, Klein C, Matar R, Berger R, Josefsberg SBY, Shohat M, Marom D, Basel-Salmon L, Sagi-Dain L. Maya I, et al. Among authors: shohat m. Am J Med Genet A. 2021 May;185(5):1461-1467. doi: 10.1002/ajmg.a.62131. Epub 2021 Feb 22. Am J Med Genet A. 2021. PMID: 33619900

4

Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1-8 does not cause Beals syndrome.

Maya I, Kahana S, Agmon-Fishman I, Klein C, Matar R, Berger R, Shohat M, Basel-Salmon L, Sharony R, Sagi-Dain L. Maya I, et al. Among authors: shohat m. Eur J Med Genet. 2020 Oct;63(10):104008. doi: 10.1016/j.ejmg.2020.104008. Epub 2020 Jul 21. Eur J Med Genet. 2020. PMID: 32702406

5

Should We Report 15q11.2 BP1-BP2 Deletions and Duplications in the Prenatal Setting?

Maya I, Perlman S, Shohat M, Kahana S, Yacobson S, Tenne T, Agmon-Fishman I, Tomashov Matar R, Basel-Salmon L, Sukenik-Halevy R. Maya I, et al. Among authors: shohat m. J Clin Med. 2020 Aug 11;9(8):2602. doi: 10.3390/jcm9082602. J Clin Med. 2020. PMID: 32796639 Free PMC article.

6

A study of normal copy number variations in Israeli population.

Maya I, Smirin-Yosef P, Kahana S, Morag S, Yacobson S, Agmon-Fishman I, Matar R, Bitton E, Shohat M, Basel-Salmon L, Salmon-Divon M. Maya I, et al. Among authors: shohat m. Hum Genet. 2021 Mar;140(3):553-563. doi: 10.1007/s00439-020-02225-4. Epub 2020 Sep 27. Hum Genet. 2021. PMID: 32980975

7

Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly.

Basel-Salmon L, Ruhrman-Shahar N, Barel O, Hagari O, Marek-Yagel D, Azulai N, Bazak L, Svirsky R, Reznik-Wolf H, Lidzbarsky GA, Shohat M. Basel-Salmon L, et al. Among authors: shohat m. Eur J Med Genet. 2021 Feb;64(2):104124. doi: 10.1016/j.ejmg.2020.104124. Epub 2021 Jan 8. Eur J Med Genet. 2021. PMID: 33359164

8

Myotonic dystrophy--no evidence for preferential transmission of the mutated allele: a prenatal analysis.

Zunz E, Abeliovich D, Halpern GJ, Magal N, Shohat M. Zunz E, et al. Among authors: shohat m. Am J Med Genet A. 2004 May 15;127A(1):50-53. doi: 10.1002/ajmg.a.20675. Am J Med Genet A. 2004. PMID: 15103717

9

Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rate.

Sukenik-Halevy R, Pesso R, Garbian N, Magal N, Shohat M. Sukenik-Halevy R, et al. Among authors: shohat m. Genet Test Mol Biomarkers. 2010 Jun;14(3):319-24. doi: 10.1089/gtmb.2009.0089. Genet Test Mol Biomarkers. 2010. PMID: 20373854

10

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L. Maydan G, et al. Among authors: shohat m. J Med Genet. 2011 Jun;48(6):383-9. doi: 10.1136/jmg.2010.087114. Epub 2011 Apr 14. J Med Genet. 2011. PMID: 21493957

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