Collaborator: University of Düsseldorf, Düsseldorf, Germany

• Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

• SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

  Abstract Although genetic testing is increasingly used in clinical nephrology, a large number of patients with congenital abnormalities of the kidney and urinary tract (CAKUT) remain undiagnosed with current gene panels. Therefore, careful curation of novel genetic findings is key to improving diagnostic yields. We recently described a novel intellectual disability syndrome caused by de novo heterozygous…