• Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L
• Bone marrow morphologic and neuroradiologic findings in a case of pediatric myelodysplastic syndrome arising in ataxia-pancytopenia syndrome
• Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in <em>SAMD9L</em>-Associated Neuropathy
• Sequencing of human genomes with nanopore technology
• Successful Haploidentical Bone Marrow Transplantation of an Infant With a Novel Mutation in SAMD9L Gene (Ataxia-Pancytopenia Syndrome)