Collaborator: Icahn School of Medicine at Mount Sinai

• Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

• Effect of genetic testing results on patient reported quality of life among patients undergoing panel testing for newly diagnosed ovarian cancer

  April 2, 2026

• Genotype-phenotype correlation at codon 1740 of SETD2

• ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

• Reticular dysgenesis caused by an intronic pathogenic variant in AK2

• Inherited cancer predisposing mutations in patients with therapy-related myeloid neoplasms

• Facilitated referral pathway for genetic testing at the time of ovarian cancer diagnosis: uptake of genetic counseling and testing and impact on patient-reported stress, anxiety and depression

• Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer

• Microcephaly and Tracheoesophageal Fistula in a newborn with PNKP mutation

  Biallelic loss of function variants in PNKP can cause a disorder that is challenging to diagnose due to non-specific features such as developmental delay, microcephaly, and seizures. We present the first report of a patient with a homozygous loss of function variant in PNKP identified via diagnostic exome sequencing (DES) who also presented with birth…

  April 2, 2026