Associated Papers
Structural Mechanisms of SAMD9 Autoinhibition and Pathogenic Dysregulation.
Mou Z et al.
Biorxiv : the Preprint Server for Biology, 2026
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Vorsteveld EE et al.
Clinical Immunology (orlando, Fla.), 2024
First Application of Whole Genome Sequencing in Myelinated Retinal Nerve Fibers (MRNF).
Scott Sills E et al.
Physiological Research, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9 / SAMD9L Germline Mutation.
Hirai M et al.
Journal of Pediatric Hematology/oncology, 2023
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB et al.
Nature Medicine, 2023
Five-Year Assessment of Multiple Gene Variants Associated with Bone Marrow Hypocellularity, Reduced Bone Density, and Ovarian Insufficiency in Adolescence.
Sills ES et al.
Journal of Bone Metabolism, 2022
Covid-19 and adolescent acute kidney injury: Renal recovery with combined enalapril and estrogen therapy.
Sills ES et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022
Phenotype from SAMD9 Mutation at 7p21.2 Appears Attenuated by Novel Compound Heterozygous Variants at RUNX2 and SALL1.
Sills ES et al.
Global Medical Genetics, 2022
[MIRAGE syndrome caused by variation of sterile alpha motif domain-containing protein 9 gene].
Zheng RF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7.
Yoshida M et al.
British Journal of Haematology, 2020
High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise Approach.
Jacobson JD et al.
Endocrinology, 2020
Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations.
Ahmed IA et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2019
Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.
Formankova R et al.
Frontiers in Immunology, 2019
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.
Jeffries L et al.
American Journal of Medical Genetics. Part A, 2018