Isakov O - Search Results

1

Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.

Pras E, Kristal D, Shoshany N, Volodarsky D, Vulih I, Celniker G, Isakov O, Shomron N, Pras E. Pras E, et al. Among authors: isakov o. J Med Genet. 2015 Jul;52(7):484-92. doi: 10.1136/jmedgenet-2015-103130. Epub 2015 May 18. J Med Genet. 2015. PMID: 25986072

2

Pathogen detection using short-RNA deep sequencing subtraction and assembly.

Isakov O, Modai S, Shomron N. Isakov O, et al. Bioinformatics. 2011 Aug 1;27(15):2027-30. doi: 10.1093/bioinformatics/btr349. Epub 2011 Jun 11. Bioinformatics. 2011. PMID: 21666269 Free PMC article.

3

miRviewer: a multispecies microRNA homologous viewer.

Kiezun A, Artzi S, Modai S, Volk N, Isakov O, Shomron N. Kiezun A, et al. Among authors: isakov o. BMC Res Notes. 2012 Feb 13;5:92. doi: 10.1186/1756-0500-5-92. BMC Res Notes. 2012. PMID: 22330228 Free PMC article.

4

Novel insight into the non-coding repertoire through deep sequencing analysis.

Isakov O, Ronen R, Kovarsky J, Gabay A, Gan I, Modai S, Shomron N. Isakov O, et al. Nucleic Acids Res. 2012 Jun;40(11):e86. doi: 10.1093/nar/gks228. Epub 2012 Mar 9. Nucleic Acids Res. 2012. PMID: 22406831 Free PMC article.

5

Familial pityriasis rubra pilaris is caused by mutations in CARD14.

Fuchs-Telem D, Sarig O, van Steensel MA, Isakov O, Israeli S, Nousbeck J, Richard K, Winnepenninckx V, Vernooij M, Shomron N, Uitto J, Fleckman P, Richard G, Sprecher E. Fuchs-Telem D, et al. Among authors: isakov o. Am J Hum Genet. 2012 Jul 13;91(1):163-70. doi: 10.1016/j.ajhg.2012.05.010. Epub 2012 Jun 14. Am J Hum Genet. 2012. PMID: 22703878 Free PMC article.

6

Analysis of insertion-deletion from deep-sequencing data: software evaluation for optimal detection.

Neuman JA, Isakov O, Shomron N. Neuman JA, et al. Among authors: isakov o. Brief Bioinform. 2013 Jan;14(1):46-55. doi: 10.1093/bib/bbs013. Epub 2012 Mar 24. Brief Bioinform. 2013. PMID: 22707752

7

Exome sequencing analysis: a guide to disease variant detection.

Isakov O, Perrone M, Shomron N. Isakov O, et al. Methods Mol Biol. 2013;1038:137-58. doi: 10.1007/978-1-62703-514-9_8. Methods Mol Biol. 2013. PMID: 23872973

8

Meeting summary: Ethical aspects of whole exome and whole genome sequencing studies (WES/WGS) in rare diseases, Tel Aviv, Israel, January 2013.

Farberov L, Gilam A, Isakov O, Shomron N. Farberov L, et al. Among authors: isakov o. Genet Res (Camb). 2013 Jun;95(2-3):53-6. doi: 10.1017/S0016672313000104. Genet Res (Camb). 2013. PMID: 23938110

9

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.

Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CSM, Wilson NJ, Smith FJD, Pohler E, Simpson MA, McLean WHI, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E. Samuelov L, et al. Among authors: isakov o. Nat Genet. 2013 Oct;45(10):1244-1248. doi: 10.1038/ng.2739. Epub 2013 Aug 25. Nat Genet. 2013. PMID: 23974871 Free PMC article.

10

Missense mutation in the MEN1 gene discovered through whole exome sequencing co-segregates with familial hyperparathyroidism.

Isakov O, Rinella ES, Olchovsky D, Shimon I, Ostrer H, Shomron N, Friedman E. Isakov O, et al. Genet Res (Camb). 2013 Aug;95(4):114-20. doi: 10.1017/S0016672313000141. Genet Res (Camb). 2013. PMID: 24074368

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

62 results

Search Page