SAMD9L Foundation

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Research Highlights

Staying informed about the latest research is vital for understanding and managing SAMD9L. Below is a curated list of significant publications and resources

Publications

Raskind WH et al. (2017) – SAMD9L Ataxia-Pancytopenia Syndrome

Wlodarski M et al. (2021) – The Arrival of Personalized Genomics in Bone Marrow Failure

Pastor VB et al. (2017) – Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

Sushree S. et al. (2025) Genetic and clinical spectrum of SAMD9 and SAMD9L syndromes: from variant interpretation to patient management

Xiang Y et al. (2023) Human SAMD9 is a poxvirus-activatable anticodon nuclease inhibiting codon-specific protein synthesis

Additional Resources

Marcin Wlordarki Lab at St. Jude’s Hospital

Investigating Genetic Predisposition to Bone Marrow Failure

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SAMD9/L Mutations Database of Variants

Describes all the pathogenic germline variants and the associated clinical phenotypes reported till date.

Learn more

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