Peter B. Kang
Publications by Year
Research Areas
Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, Genetic Neurodegenerative Diseases, Cardiomyopathy and Myosin Studies, RNA Research and Splicing
Most-Cited Works
- → Improving genetic diagnosis in Mendelian disease with transcriptome sequencing(2017)790 cited
- → Observational study of spinal muscular atrophy type I and implications for clinical trials(2014)514 cited
- → Distinctive patterns of microRNA expression in primary muscular disorders(2007)506 cited
- → The human macrophage mannose receptor directs Mycobacterium tuberculosis lipoarabinomannan-mediated phagosome biogenesis(2005)503 cited
- → Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria(2022)488 cited
- → Prospective cohort study of spinal muscular atrophy types 2 and 3(2012)288 cited
- → Infectious Causes of Acute Pancreatitis(1996)272 cited
- → Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup(2023)266 cited
- → Synthesis of ZnO nanoparticles for varistor application using Zn-substituted aerosol ot microemulsion(1997)201 cited
- → Emery‐Dreifuss muscular dystrophy(2019)162 cited