Mark D Fleming MD DPhil

PubMed

• Expanding the Phenotype of DNA Ligase 1 Deficiency: First Report of Macrocytic Sideroblastic Anemia.
  Debbie Jiang, Emily Vistica Sampino, Kira Rosenlind, Dean R Campagna, Stephanie DiTroia
  American Journal of Hematology. 2025-05-01
• Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
  Sarah L Stenton, Kristen Laricchia, Nicole J Lake, Sushma Chaluvadi, Vijay Ganesh
  HGG Advances. 2025-04-15
• Advancing precision care in pregnancy through a treatable fetal findings list.
  Jennifer L Cohen, Michael Duyzend, Sophia M Adelson, Julie Yeo, Mark Fleming
  American Journal of Human Genetics. 2025-04-03

Journal Articles

• The Phenotypic Spectrum of Germline YARS2 Variants: From Isolated Sideroblastic Anemia to Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia 2  
  Matthew M Heeney, Gregory A Hale, David P Steensma, Mark D Fleming, Colin A Sieff, Lee M Hilliard, Sylvia S Bottomley, Janet L Kwiatkowski, Haematologica
• Congenital Macrothrombocytopenia with Focal Myelofibrosis Due to Mutations in Human G6b-B Is Rescued in Humanized Mice  
  Mark Fleming, MD, Blood

Lectures

• Lack of Gdf11 Does Not Ameliorate Erythropoiesis in β-Thalassemia and Does Not Prevent the Activity of the Trap-Ligand Rap-536 
  2018 ASH Annual Meeting - San Diego, CA - 12/1/2018