Behar DM - Search Results

1

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

Cohen L, Tzur S, Goldenberg-Cohen N, Bormans C, Behar DM, Reinstein E. Cohen L, et al. Among authors: behar dm. Genet Res (Camb). 2016 Jun 6;98:e10. doi: 10.1017/S0016672316000070. Genet Res (Camb). 2016. PMID: 27265430 Free PMC article.

2

[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].

Cohen L, Orenstein N, Weisz-Hubshman M, Bazak L, Davidov B, Reinstein E, Tzur S, Behar D, Smirin-Yosef P, Salmon-Divon M, Gross A, Shohat M, Basel-Vanagaite L. Cohen L, et al. Harefuah. 2017 Apr;156(4):212-216. Harefuah. 2017. PMID: 28551919 Hebrew.

3

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.

Reinstein E, Tzur S, Bormans C, Behar DM. Reinstein E, et al. Among authors: behar dm. Genet Res (Camb). 2016 May 13;98:e8. doi: 10.1017/S0016672316000045. Genet Res (Camb). 2016. PMID: 27173948 Free PMC article.

4

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.

Reinstein E, Tzur S, Cohen R, Bormans C, Behar DM. Reinstein E, et al. Among authors: behar dm. Eur J Hum Genet. 2016 Nov;24(11):1635-1638. doi: 10.1038/ejhg.2016.72. Epub 2016 Jun 22. Eur J Hum Genet. 2016. PMID: 27329731 Free PMC article.

5

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency.

Behar DM, Basel-Vanagaite L, Glaser F, Kaplan M, Tzur S, Magal N, Eidlitz-Markus T, Haimi-Cohen Y, Sarig G, Bormans C, Shohat M, Zeharia A. Behar DM, et al. J Lipid Res. 2014 Feb;55(2):307-12. doi: 10.1194/jlr.P041103. Epub 2013 Nov 21. J Lipid Res. 2014. PMID: 24262094 Free PMC article.

6

Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.

de Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel-Vanagaite L. de Vries L, et al. Among authors: behar dm. J Clin Endocrinol Metab. 2014 Oct;99(10):E2129-32. doi: 10.1210/jc.2014-1268. Epub 2014 Jul 25. J Clin Endocrinol Metab. 2014. PMID: 25062452

7

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.

Reinstein E, Orvin K, Tayeb-Fligelman E, Stiebel-Kalish H, Tzur S, Pimienta AL, Bazak L, Bengal T, Cohen L, Gaton DD, Bormans C, Landau M, Kornowski R, Shohat M, Behar DM. Reinstein E, et al. Among authors: behar dm. Hum Mutat. 2015 Apr;36(4):439-42. doi: 10.1002/humu.22759. Epub 2015 Mar 16. Hum Mutat. 2015. PMID: 25645515

8

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Reinstein E, Gutierrez-Fernandez A, Tzur S, Bormans C, Marcu S, Tayeb-Fligelman E, Vinkler C, Raas-Rothschild A, Irge D, Landau M, Shohat M, Puente XS, Behar DM, Lopez-Otın C. Reinstein E, et al. Among authors: behar dm. Eur J Hum Genet. 2016 Dec;24(12):1792-1796. doi: 10.1038/ejhg.2016.110. Epub 2016 Sep 7. Eur J Hum Genet. 2016. PMID: 27601210 Free PMC article.

9

Performance comparison: exome sequencing as a single test replacing Sanger sequencing.

Fridman H, Bormans C, Einhorn M, Au D, Bormans A, Porat Y, Sanchez LF, Manning B, Levy-Lahad E, Behar DM. Fridman H, et al. Among authors: behar dm. Mol Genet Genomics. 2021 May;296(3):653-663. doi: 10.1007/s00438-021-01772-3. Epub 2021 Mar 11. Mol Genet Genomics. 2021. PMID: 33694043

10

Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation.

Straussberg R, Ganelin-Cohen E, Goldberg-Stern H, Tzur S, Behar DM, Smirin-Yosef P, Salmon-Divon M, Basel-Vanagaite L. Straussberg R, et al. Among authors: behar dm. Eur J Paediatr Neurol. 2015 Mar;19(2):240-2. doi: 10.1016/j.ejpn.2014.11.004. Epub 2014 Nov 29. Eur J Paediatr Neurol. 2015. PMID: 25500575

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