Peter B. Kang

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 767 citations · Full text

Observational study of spinal muscular atrophy type I and implications for clinical trials

Richard S. Finkel, Michael McDermott, Petra Kaufmann et al. · Neurology · 2014 · 506 citations · Full text

The human macrophage mannose receptor directs <i>Mycobacterium tuberculosis</i> lipoarabinomannan-mediated phagosome biogenesis

Peter B. Kang, Abul Azad, Jordi B. Torrelles et al. · The Journal of Experimental Medicine · 2005 · 502 citations · Full text

Distinctive patterns of microRNA expression in primary muscular disorders

Iris Eisenberg, Alal Eran, Ichizo Nishino et al. · Proceedings of the National Academy of Sciences · 2007 · 500 citations · Full text

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Vikas Pejaver, Alicia B. Byrne, Bing Feng et al. · The American Journal of Human Genetics · 2022 · 471 citations · Full text