| Variant PADI3 in Central Centrifugal Cicatricial Alopecia L Malki, O Sarig, MT Romano, MC Méchin, A Peled, M Pavlovsky, ... New England Journal of Medicine 380 (9), 833-841, 2019 | 129 | 2019 |
| Filaggrin 2 deficiency results in abnormal cell-cell adhesion in the cornified cell layers and causes peeling skin syndrome type A J Mohamad, O Sarig, LM Godsel, A Peled, N Malchin, R Bochner, D Vodo, ... Journal of Investigative Dermatology 138 (8), 1736-1743, 2018 | 43 | 2018 |
| Bayesian-based noninvasive prenatal diagnosis of single-gene disorders T Rabinowitz, A Polsky, D Golan, A Danilevsky, G Shapira, C Raff, ... Genome research 29 (3), 428-438, 2019 | 38 | 2019 |
| Genome-wide noninvasive prenatal diagnosis of monogenic disorders: current and future trends T Rabinowitz, N Shomron Computational and Structural Biotechnology Journal 18, 2463-2470, 2020 | 28 | 2020 |
| Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population J Mohamad, L Samuelov, N Malchin, T Rabinowitz, S Assaf, L Malki, ... Experimental Dermatology 30 (9), 1290-1297, 2021 | 20 | 2021 |
| A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews Y Tatour, J Tamaiev, S Shamaly, R Colombo, E Bril, T Rabinowitz, ... Molecular Vision 25, 155, 2019 | 20 | 2019 |
| Loss-of-function variants in SERPINA12 underlie autosomal recessive palmoplantar keratoderma J Mohamad, O Sarig, L Malki, T Rabinowitz, S Assaf, K Malovitski, ... Journal of Investigative Dermatology 140 (11), 2178-2187, 2020 | 19 | 2020 |
| Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype D Vodo, O Sarig, D Jeddah, N Malchin, M Eskin‐Schwarz, J Mohamad, ... British Journal of Dermatology 178 (6), 1455-1457, 2018 | 6 | 2018 |
| PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India P Vanniya. S, J Chandru, JM Jeffrey, T Rabinowitz, Z Brownstein, ... Annals of Human Genetics 86 (1), 1-13, 2022 | 5 | 2022 |
| Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B J Mohamad, L Samuelov, L Malki, A Peled, M Pavlovsky, K Malovitski, ... Clinical and Experimental Dermatology 46 (1), 103-108, 2021 | 4 | 2021 |
| Linear mycosis fungoides in a blaschkoid distribution Y Kaplan, O Sarig, T Rabinowitz, J Mohamad, N Shomron, E Sprecher, ... Harefuah 159 (1), 25-28, 2020 | 4 | 2020 |
| Genome-wide noninvasive prenatal diagnosis of de novo mutations R Peretz-Machluf, T Rabinowitz, N Shomron Deep Sequencing Data Analysis, 249-269, 2021 | 3 | 2021 |
| Improved noninvasive fetal variant calling using standardized benchmarking approaches T Rabinowitz, S Deri-Rozov, N Shomron Computational and Structural Biotechnology Journal 19, 509-517, 2021 | 2 | 2021 |
| Machine learning‐enhanced noninvasive prenatal testing of monogenic disorders N Liscovitch‐Brauer, R Mesika, T Rabinowitz, H Volkov, M Grad, RT Matar, ... Prenatal Diagnosis, 2024 | | 2024 |
| P766: A combined Bayesian inference and machine-learning approach for prenatal screening by cell free DNA of monogenic disorders N Liscovitch-Brauer, R Mesika, T Rabinowitz, H Volkov, M Grad, RT Matar, ... Genetics in Medicine Open 2, 2024 | | 2024 |
| P762: Short-read haplotype-assisted genotyping for prenatal screening of monogenic disorders N Liscovitch-Brauer, T Rabinowitz, S Bornstein, L Schneor, R Mesika, ... Genetics in Medicine Open 2, 2024 | | 2024 |
| Method and system for identifying gene disorder in maternal blood N Shomron, T Rabinowitz US Patent App. 17/272,961, 2021 | | 2021 |
| Genome-Wide Noninvasive Prenatal Diagnosis of SNPs and Indels T Rabinowitz, N Shomron Deep Sequencing Data Analysis, 227-248, 2021 | | 2021 |
Noam ShomronProfessor at Tel Aviv UniversityVerified email at post.tau.ac.il
