Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

(2016) Dong-Hui Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The genomic landscape of core-binding factor acute myeloid leukemias

(2016) Zachary J Faber et al.   NATURE GENETICS

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome and are associated with loss of chromosome 7

(2016) Satoshi Narumi et al.   NATURE GENETICS

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents

(2015) M. W. Wlodarski et al.   BLOOD

Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults

(2015) Daria V. Babushok et al.   LEUKEMIA & LYMPHOMA

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Clinical and biological implications of driver mutations in myelodysplastic syndromes

(2013) E. Papaemmanuil et al.   BLOOD

Haploinsufficiency of SAMD9L, an Endosome Fusion Facilitator, Causes Myeloid Malignancies in Mice Mimicking Human Diseases with Monosomy 7

(2013) Akiko Nagamachi et al.   CANCER CELL

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia

(2013) Hirotoshi Sakaguchi et al.   NATURE GENETICS