Ben Samelson-Jones/X
Aug 4, 2025, 06:00
Genotype–Phenotype Understanding in Hemophilia B: Commentary on Factor IX Missense Variants
Ben Samelson-Jones, Assistant Professor of Pediatrics (Hematology) at the Children’s Hospital of Philadelphia, posted on X:
”As hemophilia B therapeutics become more sophisticated, there is an increased need to better understand genotype–phenotype relationships. Our in vitro studies are consistent with recent in silica approaches․”
Read the full article here.
Title: An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B”: comment from Lee et al.
Authors: Kyumin Lee, Annalisse DeSandre, Benjamin J. Samelson–Jones
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