Collaborator: Albert Einstein College of Medicine

• Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance

• A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers

• Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)

• Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

• Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

• Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer

• Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

• Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results

• Functional and clinical characterization of BRCA2 hypomorphic missense variants

  First Author: Huaizhi Huang (Mayo) Ambry Authors: Marcy Richardson,PhD; Rachid Karam,MD, PhD; Tina Pesaran

  April 2, 2026

• Multiplexed assays of variant effect for all possible missense alterations located in the DNA binding domain of BRCA2

  First Author: Chunling Hu (Mayo) Ambry Authors: Rachid Karam, MD, PhD; Tina Pesaran, Marcy Richardson, PhD

  April 2, 2026