Associated Papers
Monolobated megakaryocytes in Diamond-Blackfan anemia with RPL5 mutation at disease presentation mimicking myelodysplastic syndrome.
Setiadi A et al.
Pediatric Blood & Cancer, 2024
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.
Edwards JJ et al.
Jacc. Basic to Translational Science, 2020
32368696 (PubMed )
Supplement: mmc3.xlsx › Cases
De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.
Sevim Bayrak C et al.
Genome Medicine, 2020
31941532 (PubMed )
Supplement: 13073_2019_709_MOESM1_ESM.xlsx › S2
Osteosarcoma: Molecular Pathogenesis and iPSC Modeling.
Lin YH et al.
Trends in Molecular Medicine, 2017
Modeling Human Bone Marrow Failure Syndromes Using Pluripotent Stem Cells and Genome Engineering.
Jung M et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2015
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
Smetanina NS et al.
Pediatric Blood & Cancer, 2015
Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia.
Ge J et al.
Plos One, 2015
Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients.
Garçon L et al.
Blood, 2013
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria I et al.
Human Mutation, 2010
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Gazda HT et al.
American Journal of Human Genetics, 2008
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