Zeevi DA - Search Results

1

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.

Hirsch Y, Zeevi DA, Lam BL, Scher SY, Bringer R, Cherki B, Cohen CC, Muallem H, Chiang JP, Pantrangi M, Ekstein J, Johansson MM. Hirsch Y, et al. Among authors: zeevi da. Hum Genome Var. 2019 Sep 12;6:45. doi: 10.1038/s41439-019-0076-4. eCollection 2019. Hum Genome Var. 2019. PMID: 31645983 Free PMC article.

2

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.

Rabin R, Hirsch Y, Johansson MM, Ekstein J, Zeevi DA, Keena B, Zackai EH, Pappas J. Rabin R, et al. Among authors: zeevi da. Am J Med Genet A. 2019 Oct;179(10):2144-2151. doi: 10.1002/ajmg.a.61284. Epub 2019 Jul 9. Am J Med Genet A. 2019. PMID: 31287223

3

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

Muir AM, Cohen JL, Sheppard SE, Guttipatti P, Lo TY, Weed N, Doherty D, DeMarzo D, Fagerberg CR, Kjærsgaard L, Larsen MJ, Rump P, Löhner K, Hirsch Y, Zeevi DA, Zackai EH, Bhoj E, Song Y, Mefford HC. Muir AM, et al. Among authors: zeevi da. Am J Hum Genet. 2020 May 7;106(5):623-631. doi: 10.1016/j.ajhg.2020.03.009. Epub 2020 Apr 9. Am J Hum Genet. 2020. PMID: 32275884 Free PMC article.

4

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Zeevi DA, Chung WK, Levi C, Scher SY, Bringer R, Kahan Y, Muallem H, Benel R, Hirsch Y, Weiden T, Ekstein A, Ekstein J. Zeevi DA, et al. Mol Genet Genomic Med. 2021 Aug;9(8):e1756. doi: 10.1002/mgg3.1756. Epub 2021 Jul 20. Mol Genet Genomic Med. 2021. PMID: 34288589 Free PMC article.

5

Is there a way to reduce the inequity in variant interpretation on the basis of ancestry?

Appelbaum PS, Burke W, Parens E, Zeevi DA, Arbour L, Garrison NA, Bonham VL, Chung WK. Appelbaum PS, et al. Among authors: zeevi da. Am J Hum Genet. 2022 Jun 2;109(6):981-988. doi: 10.1016/j.ajhg.2022.04.012. Am J Hum Genet. 2022. PMID: 35659933 Free PMC article.

6

Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.

Yıldız Bölükbaşı E, Karolak JA, Szafranski P, Gambin T, Murik O, Zeevi DA, Altarescu G, Stankiewicz P. Yıldız Bölükbaşı E, et al. Among authors: zeevi da. Am J Med Genet A. 2022 May;188(5):1420-1425. doi: 10.1002/ajmg.a.62656. Epub 2022 Jan 25. Am J Med Genet A. 2022. PMID: 35075769 Free PMC article.

7

Off the street phasing (OTSP): no hassle haplotype phasing for molecular PGD applications.

Zeevi DA, Zahdeh F, Kling Y, Carmi S, Altarescu G. Zeevi DA, et al. J Assist Reprod Genet. 2019 Apr;36(4):727-739. doi: 10.1007/s10815-018-1392-1. Epub 2019 Jan 8. J Assist Reprod Genet. 2019. PMID: 30617673 Free PMC article.

8

Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model.

Bochner R, Ziv Y, Zeevi D, Donyo M, Abraham L, Ashery-Padan R, Ast G. Bochner R, et al. Hum Mol Genet. 2013 Jul 15;22(14):2785-94. doi: 10.1093/hmg/ddt126. Epub 2013 Mar 20. Hum Mol Genet. 2013. PMID: 23515154

9

Acceptable applications of preimplantation genetic diagnosis (PGD) among Israeli PGD users.

Zuckerman S, Zeevi DA, Gooldin S, Altarescu G. Zuckerman S, et al. Among authors: zeevi da. Eur J Hum Genet. 2017 Oct;25(10):1113-1117. doi: 10.1038/ejhg.2017.113. Epub 2017 Jul 26. Eur J Hum Genet. 2017. PMID: 28905883 Free PMC article.

10

Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing.

Zeevi DA, Backenroth D, Hakam-Spector E, Renbaum P, Mann T, Zahdeh F, Segel R, Zeligson S, Eldar-Geva T, Ben-Ami I, Ben-Yehuda A, Carmi S, Altarescu G. Zeevi DA, et al. Genet Med. 2021 Jul;23(7):1334-1340. doi: 10.1038/s41436-021-01145-6. Epub 2021 Mar 26. Genet Med. 2021. PMID: 33772222 Free article.

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