Catherine Hasman
Papers
1
Total Citations
417
H-Index
1
About
Catherine Hasman is a leading researcher in the molecular genetics of rare congenital disorders, with a primary focus on Diamond-Blackfan Anemia (DBA). Her seminal 2008 study, cited over 417 times, identified that mutations in ribosomal proteins L5 and L11 are associated with cleft palate and abnormal thumbs in DBA patients. This work fundamentally reshaped the understanding of DBA as a ribosomopathy, linking ribosomal dysfunction to specific developmental anomalies. By demonstrating that these mutations cause both hematologic and skeletal abnormalities, Hasman provided critical insights into the pleiotropic effects of ribosomal protein defects. Her contributions have not only advanced the clinical diagnosis and genetic counseling for DBA families but also established a paradigm for studying how ribosomal stress impacts embryonic development. Through her meticulous genetic analyses, Hasman has become a key figure in bridging ribosome biology with human disease, and her findings continue to guide therapeutic strategies for ribosomopathies.
Research Focus
Key Achievements
Top Papers
- 1