Associated Papers
Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.
Elbaz Younes I et al.
Cancers, 2026
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants.
Gahr S et al.
Experimental Cell Research, 2023
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
Tumoural soft tissue calcification in Down syndrome: association with heterozygous germline SAMD9 mutation and hyperactive type I interferon signaling.
Deigendesch N et al.
Rheumatology (oxford, England), 2020
Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
Sahoo SS et al.
Best Practice & Research. Clinical Haematology, 2020
A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene
Mengen E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2020
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
The complex domain architecture of SAMD9 family proteins, predicted STAND-like NTPases, suggests new links to inflammation and apoptosis.
Mekhedov SL et al.
Biology Direct, 2017
An interaction domain in human SAMD9 is essential for myxoma virus host-range determinant M062 antagonism of host anti-viral function.
Nounamo B et al.
Virology, 2017
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.
Chefetz I et al.
Biochimica Et Biophysica Acta, 2009
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
Chefetz I et al.
The Journal of Investigative Dermatology, 2008
Tumoral calcinosis: new insights for the rheumatologist into a familial crystal deposition disease.
Sprecher E
Current Rheumatology Reports, 2007
[SAMD9 mutation in normophosphatemic familial tumoral calcinosis].
Dereure O
Annales De Dermatologie Et De Venereologie, 2007
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.
Topaz O et al.
American Journal of Human Genetics, 2006