Publications by authors named "Sari Assaf"

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Expanding the Phenotypic Spectrum of PIK3CA-Related Disorders.
Janan Mohamad, Ofer Sarig, Mor Pavlovsky, Alon Peled, Sari Assaf

Int J Dermatol· December 2025

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Loss-of-function variants in DUSP1 encoding dual specificity phosphatase 1 cause palmoplantar keratoderma.
Kiril Malovitski, Yarden Feller, Moshe Giladi, Ajit B Janagond, Namratha Shivaraj, Sari Assaf

Br J Dermatol· August 2025

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HMCN1 variants aggravate epidermolysis bullosa simplex phenotype.
Shir Bergson, Ofer Sarig, Moshe Giladi, Janan Mohamad, Mariana Mogezel-Salem, Sari Assaf

J Exp Med· May 2025

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Defective cathepsin Z affects EGFR expression and causes autosomal dominant palmoplantar keratoderma.
Kiril Malovitski, Ofer Sarig, Yarden Feller, Shir Bergson, Sari Assaf

Br J Dermatol· August 2023

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A unique skin phenotype resulting from a large heterozygous deletion spanning six keratin genes.
Janan Mohamad, Ofer Sarig, Paula Beattie, Kiril Malovitski, Sari Assaf

Br J Dermatol· November 2022

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Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.
Janan Mohamad, Liat Samuelov, Sari Assaf, Liron Malki, Kiril Malovitski

Am J Med Genet A· October 2022

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Coexistence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence.
Mor Pavlovsky, Alon Peled, Ofer Sarig, Nadav Astman, Liron Malki, Sari Assaf

Br J Dermatol· September 2022

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Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma.
Kiril Malovitski, Ofer Sarig, Sari Assaf, Janan Mohamad, Liron Malki

Genet Med· May 2022

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Up-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression.
Sari Assaf, Dan Vodo, Kiril Malovitski, Janan Mohamad, Shir Bergson

Sci Rep· April 2022

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Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.
Janan Mohamad, Liat Samuelov, Natalia Malchin, Tom Rabinowitz, Sari Assaf

Exp Dermatol· September 2021

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Epidermolytic epidermal nevus caused by a somatic mutation in KRT2.
Janan Mohamad, Liat Samuelov, Sari Assaf, Dan Vodo, Ofer Sarig

Pediatr Dermatol· March 2021

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Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma.
Janan Mohamad, Ofer Sarig, Liron Malki, Tom Rabinowitz, Sari Assaf

J Invest Dermatol· November 2020

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Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.
Liron Malki, Ofer Sarig, Nicole Cesarato, Janan Mohamad, Talia Canter, Sari Assaf

Genet Med· July 2020

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