Shomron N - Search Results

1

Genome-Wide Noninvasive Prenatal Diagnosis of De Novo Mutations.

Peretz-Machluf R, Rabinowitz T, Shomron N. Peretz-Machluf R, et al. Among authors: shomron n. Methods Mol Biol. 2021;2243:249-269. doi: 10.1007/978-1-0716-1103-6_12. Methods Mol Biol. 2021. PMID: 33606261

2

Assembly algorithms for deep sequencing data: basics and pitfalls.

Kol N, Shomron N. Kol N, et al. Among authors: shomron n. Methods Mol Biol. 2013;1038:81-91. doi: 10.1007/978-1-62703-514-9_5. Methods Mol Biol. 2013. PMID: 23872970

3

Exome sequencing analysis: a guide to disease variant detection.

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

4

Differential analysis of mutations in the Jewish population and their implications for diseases.

Einhorn Y, Weissglas-Volkov D, Carmi S, Ostrer H, Friedman E, Shomron N. Einhorn Y, et al. Among authors: shomron n. Genet Res (Camb). 2017 May 15;99:e3. doi: 10.1017/S0016672317000015. Genet Res (Camb). 2017. PMID: 28502252 Free PMC article.

5

Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype.

Vodo D, Sarig O, Jeddah D, Malchin N, Eskin-Schwarz M, Mohamad J, Rabinowitz T, Goldberg I, Shomron N, Khamaysi Z, Bergman R, Sprecher E. Vodo D, et al. Among authors: shomron n. Br J Dermatol. 2018 Jun;178(6):1455-1457. doi: 10.1111/bjd.16502. Epub 2018 Apr 16. Br J Dermatol. 2018. PMID: 29494755 No abstract available.

6

Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A.

Mohamad J, Sarig O, Godsel LM, Peled A, Malchin N, Bochner R, Vodo D, Rabinowitz T, Pavlovsky M, Taiber S, Fried M, Eskin-Schwartz M, Assi S, Shomron N, Uitto J, Koetsier JL, Bergman R, Green KJ, Sprecher E. Mohamad J, et al. Among authors: shomron n. J Invest Dermatol. 2018 Aug;138(8):1736-1743. doi: 10.1016/j.jid.2018.04.032. Epub 2018 Jun 27. J Invest Dermatol. 2018. PMID: 29758285 Free PMC article.

7

Variant PADI3 in Central Centrifugal Cicatricial Alopecia.

Malki L, Sarig O, Romano MT, Méchin MC, Peled A, Pavlovsky M, Warshauer E, Samuelov L, Uwakwe L, Briskin V, Mohamad J, Gat A, Isakov O, Rabinowitz T, Shomron N, Adir N, Simon M, McMichael A, Dlova NC, Betz RC, Sprecher E. Malki L, et al. Among authors: shomron n. N Engl J Med. 2019 Feb 28;380(9):833-841. doi: 10.1056/NEJMoa1816614. Epub 2019 Feb 13. N Engl J Med. 2019. PMID: 30763140

8

Bayesian-based noninvasive prenatal diagnosis of single-gene disorders.

Rabinowitz T, Polsky A, Golan D, Danilevsky A, Shapira G, Raff C, Basel-Salmon L, Matar RT, Shomron N. Rabinowitz T, et al. Among authors: shomron n. Genome Res. 2019 Mar;29(3):428-438. doi: 10.1101/gr.235796.118. Epub 2019 Feb 20. Genome Res. 2019. PMID: 30787035 Free PMC article.

9

A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.

Tatour Y, Tamaiev J, Shamaly S, Colombo R, Bril E, Rabinowitz T, Yaakobi A, Mezer E, Leibu R, Tiosano B, Shomron N, Chowers I, Banin E, Sharon D, Ben-Yosef T. Tatour Y, et al. Among authors: shomron n. Mol Vis. 2019 Feb 22;25:155-164. eCollection 2019. Mol Vis. 2019. PMID: 30820151 Free PMC article.

10

[LINEAR MYCOSIS FUNGOIDES IN A BLASCHKOID DISTRIBUTION].

Kaplan Y, Sarig O, Rabinowitz T, Mohamad J, Shomron N, Sprecher E, Goldberg I. Kaplan Y, et al. Among authors: shomron n. Harefuah. 2020 Jan;159(1):25-28. Harefuah. 2020. PMID: 31930803 Hebrew.

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