Collaborator: Rush University Medical Center

• Paired-like homeobox gene PHOX2B non-polyalanine repeat expansion mutations: Genotype-phenotype correlation in congenital central hypoventilation syndrome and later onset-CCHS.

  April 2, 2026

• Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS)

• A Durable Response to Pembrolizumab in a Patient with Uterine Serous Carcinoma and Lynch Syndrome due to the MSH6 Germline Mutation

• Paired tumor sequencing and germline testing in breast cancer management: An experience of a single academic center

  Abstract Background Genetic testing for cancer predisposition is recommended to women with breast cancer who meet the criteria for such testing. After the FDA approvals of the poly ADP ribose polymerase (PARP) inhibitors, olaparib and talazoparib, for treatment of metastatic breast cancer, carrying germline mutations in BRCA1 and BRCA2 genes, the genetic testing result has become critical in…