Associated Papers
Mitochondrial CHCHD2: Disease-Associated Mutations, Physiological Functions, and Current Animal Models.
Kee TR et al.
Frontiers in Aging Neuroscience, 2021
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.
Aspesi A et al.
Human Mutation, 2018
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
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
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 2008
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