ValerieAnneArboledaMDPhD

PubMed

• Increased frequency of clonal hematopoiesis of indeterminate potential in Bloom syndrome probands and carriers.
  Isabella Lin, Angela Wei, Tsumugi A Gebo, Paul C Boutros, Maeve Flanagan
  Haematologica. 2025-01-01
• ASXL1 truncating variants in BOS and myeloid leukemia drive shared disruption of Wnt-signaling pathways but have differential isoform usage of RUNX3.
  Isabella Lin, Zain Awamleh, Mili Sinvhal, Andrew Wan, Leroy Bondhus
  BMC Medical Genomics. 2024-11-29
• 1 citations
  Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease.
  Ruth Johnson, Alexis V Stephens, Rachel Mester, Sergey Knyazev, Lisa A Kohn
  Science Translational Medicine. 2024-05-01

Journal Articles

• KAT6A Syndrome: Genotype–Phenotype Correlation in 76 Patients with Pathogenic KAT6A Variants  
  Valerie A Arboleda, Marni J Falk, Stanley F Nelson, Hakon Hakonarson, Susan Schelley, Nature
• Identification of Novel PIEZO1 Variants Using Prenatal Exome Sequencing and Correlation to Ultrasound and Autopsy Findings of Recurrent Hydrops Fetalis  
  Yipeng Geng, Emily Scibetta, Valerie A Arboleda, Gelareh Nikpour, Barbara F Crandall, Carla Janzen, Ilina Datkhaeva, Joshua Deignan, American Journal of Medical Genetics Part A