Tom Rabinowitz

Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia

Liron Malki, Ofer Sarig, Maria-Teresa Romano et al. · New England Journal of Medicine · 2019 · 148 citations · Full text

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

Janan Mohamad, Ofer Sarig, Lisa M. Godsel et al. · Journal of Investigative Dermatology · 2018 · 51 citations · Full text

Skin Development, Cornified Cell Layers, Cutaneous Biology +6

Bayesian-based noninvasive prenatal diagnosis of single-gene disorders

Tom Rabinowitz, Avital Polsky, David E. Golan et al. · Genome Research · 2019 · 48 citations · Full text

Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma

Janan Mohamad, Ofer Sarig, Liron Malki et al. · Journal of Investigative Dermatology · 2020 · 27 citations

Genetic Disorder, Genetics, Loss-of-function Variants +4

Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population

Janan Mohamad, Liat Samuelov, N. Malchin et al. · Experimental Dermatology · 2021 · 22 citations

Middle‐eastern Population, Generalized Scaling, Molecular Epidemiology +16