Copy number variant

March 18, 2025

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome

Abstract Background: Phelan–McDermid syndrome (PMS) is a neurodevelopmental disorder, caused by haploinsufficiency of the SHANK3 gene. In addition to global…

February 20, 2021

Patient-Derived Mutant Forms of NFE2L2/NRF2 Drive Aggressive Murine Hepatoblastomas

Abstract Background & Aims: Hepatoblastoma (HB), the most common pediatric liver cancer, often bears β-catenin mutations and deregulates the Hippo…

April 1, 2015

Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer

Abstract Along with breast and endometrial cancers, thyroid cancer is a major component cancer in Cowden syndrome (CS). Germline variants…