Sharon Simchoni

Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the HNF1B gene

S. Ben-Shachar, L. Ben‐Sira, G. Malinger, 2021, Translational Pediatrics.

Microscopic chromosome Xp distal deletions – a challenging issue in prenatal genetic counseling

S. Ben-Shachar, Y. Yaron, A. Bar‐Shira, 2014, Prenatal diagnosis.

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population.

M. King, R. Gershoni-baruch, E. Dagan, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Whole-exome sequencing in fetuses with central nervous system abnormalities

G. Malinger, Y. Yaron, L. Hiersch, 2018, Journal of Perinatology.

Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing

A. Kurolap, A. Mory, G. Malinger, 2022, Prenatal diagnosis.