| Improving genetic diagnosis in Mendelian disease with transcriptome sequencing BB Cummings, JL Marshall, T Tukiainen, M Lek, S Donkervoort, AR Foley, ... Science translational medicine 9 (386), eaal5209, 2017 | 726 | 2017 |
| The human macrophage mannose receptor directs Mycobacterium tuberculosis lipoarabinomannan-mediated phagosome biogenesis PB Kang, AK Azad, JB Torrelles, TM Kaufman, A Beharka, E Tibesar, ... Journal of Experimental Medicine 202 (7), 987-999, 2005 | 719 | 2005 |
| Observational study of spinal muscular atrophy type I and implications for clinical trials RS Finkel, MP McDermott, P Kaufmann, BT Darras, WK Chung, ... Neurology 83 (9), 810-817, 2014 | 625 | 2014 |
| Distinctive patterns of microRNA expression in primary muscular disorders I Eisenberg, A Eran, I Nishino, M Moggio, C Lamperti, AA Amato, ... Proceedings of the National Academy of Sciences 104 (43), 17016-17021, 2007 | 615 | 2007 |
| Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria V Pejaver, AB Byrne, BJ Feng, KA Pagel, SD Mooney, R Karchin, ... The American Journal of Human Genetics 109 (12), 2163-2177, 2022 | 276 | 2022 |
| Prospective cohort study of spinal muscular atrophy types 2 and 3 P Kaufmann, MP McDermott, BT Darras, RS Finkel, DM Sproule, PB Kang, ... Neurology 79 (18), 1889-1897, 2012 | 261 | 2012 |
| Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year P Kaufmann, MP McDermott, BT Darras, R Finkel, P Kang, M Oskoui, ... Archives of neurology 68 (6), 779-786, 2011 | 182 | 2011 |
| Juvenile myasthenia gravis LM Chiang, BT Darras, PB Kang Muscle & nerve 39 (4), 423-431, 2009 | 165 | 2009 |
| MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation MS Alexander, G Kawahara, N Motohashi, JC Casar, I Eisenberg, ... Cell Death & Differentiation 20 (9), 1194-1208, 2013 | 160 | 2013 |
| Emery‐Dreifuss muscular dystrophy SA Heller, R Shih, R Kalra, PB Kang Muscle & nerve 61 (4), 436-448, 2020 | 153 | 2020 |
| MicroRNA-486–dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy–associated symptoms MS Alexander, JC Casar, N Motohashi, NM Vieira, I Eisenberg, ... The Journal of clinical investigation 124 (6), 2651-2667, 2014 | 153 | 2014 |
| Surfactant Protein D Increases Fusion of Mycobacterium tuberculosis- Containing Phagosomes with Lysosomes in Human Macrophages JS Ferguson, JL Martin, AK Azad, TR McCarthy, PB Kang, DR Voelker, ... Infection and immunity 74 (12), 7005-7009, 2006 | 146 | 2006 |
| Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy J Böhm, V Biancalana, ET DeChene, M Bitoun, CR Pierson, E Schaefer, ... Human mutation 33 (6), 949-959, 2012 | 141 | 2012 |
| Mitochondrial fusion and function in Charcot–Marie–Tooth type 2A patient fibroblasts with mitofusin 2 mutations EA Amiott, P Lott, J Soto, PB Kang, JM McCaffery, S DiMauro, ED Abel, ... Experimental neurology 211 (1), 115-127, 2008 | 133 | 2008 |
| A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3 S Chew, R Balasubramanian, WM Chan, PB Kang, C Andrews, BD Webb, ... Brain 136 (2), 522-535, 2013 | 131 | 2013 |
| Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American … PB Kang, L Morrison, ST Iannaccone, RJ Graham, CG Bönnemann, ... Neurology 84 (13), 1369-1378, 2015 | 125 | 2015 |
| Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy HJ McMillan, M Gregas, BT Darras, PB Kang Pediatrics 127 (1), e132-e136, 2011 | 123 | 2011 |
| Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies M Marttila, VL Lehtokari, S Marston, TA Nyman, C Barnerias, AH Beggs, ... Human mutation 35 (7), 779-790, 2014 | 122 | 2014 |
| Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network AM Connolly, JM Florence, MM Cradock, EC Malkus, JR Schierbecker, ... Neuromuscular Disorders 23 (7), 529-539, 2013 | 122 | 2013 |
| Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup LC Walker, M de la Hoya, GAR Wiggins, A Lindy, LM Vincent, MT Parsons, ... The American Journal of Human Genetics 110 (7), 1046-1067, 2023 | 118 | 2023 |