May Christine V. Malicdan
National Institutes of Health(US)University of Puerto Rico, Medical Sciences Campus(PR)National Human Genome Research Institute(US)Office of the Director(US)
Publications by Year
Research Areas
Inflammatory Myopathies and Dermatomyositis, Muscle Physiology and Disorders, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease(2020)1,093 cited
- → Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells(2015)259 cited
- → Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model(2009)195 cited
- → A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy(2007)159 cited
- → Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells(2018)158 cited
- → Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability(2017)153 cited