Yasmin Tatour

Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

T. Ben‐Yosef, Yasmin Tatour, 2020, Diagnostics.

Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability

H. Hakonarson, C. Ayuso, M. López-Molina, 2017, Journal of Medical Genetics.

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

A. Hoischen, C. Rivolta, P. Farinelli, 2022, Frontiers in Cell and Developmental Biology.

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

I. Chowers, N. Shomron, D. Sharon, 2019, Molecular vision.

Potential di‐genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex

M. Khayat, M. Ziv, E. Cohen‐Barak, 2022, Experimental dermatology.

Parental mosaic cutaneous‐gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis‐deafness syndrome

M. Khayat, M. Ziv, E. Cohen‐Barak, 2021, The Journal of dermatology.

Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene.

M. Khayat, E. Cohen‐Barak, N. Danial-Farran, 2024, JAMA dermatology.

Male Sterility and Reduced Female Fertility in SCAPER-Deficient Mice.

T. Ben‐Yosef, R. Shalgi, Hadas Bar-Joseph, 2020, Human molecular genetics.