Associated Papers
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant.
Sakovich IS et al.
Journal of Clinical Immunology, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
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The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
A novel compound heterozygous mutation of MYSM1 gene in a patient with bone marrow failure syndrome 4.
Zhan X et al.
British Journal of Biomedical Science, 2021
[A novel compound heterozygous mutation in MYSM1 gene in a 1-month-old girl: a bone marrow failure syndrome 4 family survey and literature review].
Huang J et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2021
Further delineation of bone marrow failure syndrome caused by novel compound heterozygous variants of MYSM1.
Li N et al.
Gene, 2020
Deubiquitinase MYSM1 in the Hematopoietic System and beyond: A Current Review.
Fiore A et al.
International Journal of Molecular Sciences, 2020
Neutrophilic Panniculitis in a child with MYSM1 deficiency.
Nanda A et al.
Pediatric Dermatology, 2019
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz W et al.
Frontiers in Immunology, 2018
Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations.
Bahrami E et al.
The Journal of Allergy and Clinical Immunology, 2017
MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts.
Alsultan A et al.
Blood, 2013
Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus.
Sankaran VG et al.
Blood, 2013
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