Chervinsky E - Search Results

1

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.

Fichtman B, Zagairy F, Biran N, Barsheshet Y, Chervinsky E, Ben Neriah Z, Shaag A, Assa M, Elpeleg O, Harel A, Spiegel R. Fichtman B, et al. Among authors: chervinsky e. Nat Commun. 2019 Feb 5;10(1):605. doi: 10.1038/s41467-019-08493-7. Nat Commun. 2019. PMID: 30723199 Free PMC article.

2

A homozygous TTN gene variant associated with lethal congenital contracture syndrome.

Chervinsky E, Khayat M, Soltsman S, Habiballa H, Elpeleg O, Shalev S. Chervinsky E, et al. Am J Med Genet A. 2018 Apr;176(4):1001-1005. doi: 10.1002/ajmg.a.38639. Am J Med Genet A. 2018. PMID: 29575618

3

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.

Rizel L, Safieh C, Shalev SA, Mezer E, Jabaly-Habib H, Ben-Neriah Z, Chervinsky E, Briscoe D, Ben-Yosef T. Rizel L, et al. Among authors: chervinsky e. Mol Vis. 2011;17:3548-55. Epub 2011 Dec 30. Mol Vis. 2011. PMID: 22219650 Free PMC article.

4

The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.

Khayat M, Danial-Farran N, Chervinsky E, Zehavi Y, Peled-Peretz L, Gafni-Amsalem C, Hakrosh S, Abu-Leil Zouabi O, Tamir L, Mamlouk E, Zlotogora J, Shalev SA. Khayat M, et al. Among authors: chervinsky e. Clin Genet. 2021 Nov;100(5):522-528. doi: 10.1111/cge.14032. Epub 2021 Aug 23. Clin Genet. 2021. PMID: 34297361

5

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.

Cohen B, Chervinsky E, Jabaly-Habib H, Shalev SA, Briscoe D, Ben-Yosef T. Cohen B, et al. Among authors: chervinsky e. Mol Vis. 2012;18:2915-21. Epub 2012 Dec 1. Mol Vis. 2012. PMID: 23233793 Free PMC article.

6

Homozygote loss-of-function variants in the human COCH gene underlie hearing loss.

Danial-Farran N, Chervinsky E, Nadar-Ponniah PT, Cohen Barak E, Taiber S, Khayat M, Avraham KB, Shalev SA. Danial-Farran N, et al. Among authors: chervinsky e. Eur J Hum Genet. 2021 Feb;29(2):338-342. doi: 10.1038/s41431-020-00724-6. Epub 2020 Sep 16. Eur J Hum Genet. 2021. PMID: 32939038 Free PMC article.

7

Treatment of Resistance to Thyroid Hormone in Pregnancy: How to Address the Challenge.

Chertok Shacham E, Chervinsky E, Ishay A. Chertok Shacham E, et al. Among authors: chervinsky e. Isr Med Assoc J. 2018 Nov;20(11):709-711. Isr Med Assoc J. 2018. PMID: 30430803 Free article. No abstract available.

8

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

Banka S, Chervinsky E, Newman WG, Crow YJ, Yeganeh S, Yacobovich J, Donnai D, Shalev S. Banka S, et al. Among authors: chervinsky e. Eur J Hum Genet. 2011 Jan;19(1):18-22. doi: 10.1038/ejhg.2010.136. Epub 2010 Aug 18. Eur J Hum Genet. 2011. PMID: 20717171 Free PMC article.

9

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

Urquhart J, Roberts R, de Silva D, Shalev S, Chervinsky E, Nampoothiri S, Sznajer Y, Revencu N, Gunasekera R, Suri M, Ellingford J, Williams S, Bhaskar S, Clayton-Smith J. Urquhart J, et al. Among authors: chervinsky e. Am J Med Genet A. 2016 May;170A(5):1216-24. doi: 10.1002/ajmg.a.37564. Epub 2016 Jan 20. Am J Med Genet A. 2016. PMID: 26789649

10

Bi-allelic FRA10AC1 variants in a multisystem human syndrome.

Banka S, Shalev S, Park SM, Wood KA, Thomas HB, Wright HL, Alyahya M, Bankier S, Alimi O, Chervinsky E, Zeef LAH, O'Keefe RT. Banka S, et al. Among authors: chervinsky e. Brain. 2022 Oct 21;145(10):e86-e89. doi: 10.1093/brain/awac262. Brain. 2022. PMID: 35871492 No abstract available.

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