| SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy PB Agrawal, CR Pierson, M Joshi, X Liu, G Ravenscroft, ... The American Journal of Human Genetics 95 (2), 218-226, 2014 | 165 | 2014 |
| Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of … PB Agrawal, M Joshi, T Savic, Z Chen, AH Beggs Human molecular genetics 21 (10), 2341-2356, 2012 | 94 | 2012 |
| Cofilin-2 phosphorylation and sequestration in myocardial aggregates: novel pathogenetic mechanisms for idiopathic dilated cardiomyopathy K Subramanian, D Gianni, C Balla, GE Assenza, M Joshi, MJ Semigran, ... Journal of the American College of Cardiology 65 (12), 1199-1214, 2015 | 78 | 2015 |
| Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings M Touma, M Joshi, MC Connolly, P Ellen Grant, AR Hansen, O Khwaja, ... Epilepsia 54 (5), e81-e85, 2013 | 65 | 2013 |
| Determining the drivers of academic success in surgery: an analysis of 3,850 faculty NP Valsangkar, TA Zimmers, BJ Kim, C Blanton, MM Joshi, TM Bell, ... PloS one 10 (7), e0131678, 2015 | 50 | 2015 |
| A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia M Joshi, J Eagan, NK Desai, SA Newton, MC Towne, NS Marinakis, ... European Journal of Human Genetics 22 (10), 1229-1232, 2014 | 43 | 2014 |
| Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-á protein (PMPCA) cause a severe mitochondrial disease M Joshi, I Anselm, J Shi, TA Bale, M Towne, K Schmitz-Abe, L Crowley, ... Molecular Case Studies 2 (3), a000786, 2016 | 41 | 2016 |
| Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings PB Agrawal, M Joshi, NS Marinakis, K Schmitz-Abe, PDSC Ciarlini, ... JAMA neurology 71 (11), 1413-1420, 2014 | 41 | 2014 |
| Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus VG Sankaran, M Joshi, A Agrawal, K Schmitz-Abe, MC Towne, ... Blood, The Journal of the American Society of Hematology 122 (23), 3845-3847, 2013 | 25 | 2013 |
| Development of soft tissue sarcomas in ribosomal proteins L5 and S24 heterozygous mice S Kazerounian, PDSC Ciarlini, D Yuan, R Ghazvinian, M Alberich-Jorda, ... Journal of Cancer 7 (1), 32, 2016 | 23 | 2016 |
| The role of PhD faculty in advancing research in departments of surgery TM Bell, N Valsangkar, M Joshi, J Mayo, C Blanton, TA Zimmers, ... Annals of surgery 265 (1), 111-115, 2017 | 21 | 2017 |
| Implementation approaches and barriers for rule-based and machine learning-based sepsis risk prediction tools: a qualitative study M Joshi, K Mecklai, R Rozenblum, L Samal JAMIA open 5 (2), ooac022, 2022 | 15 | 2022 |
| NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings KT Leeman, L Dobson, M Towne, D Dukhovny, M Joshi, J Stoler, ... Journal of Perinatology 34 (5), 410-411, 2014 | 11 | 2014 |
| The positive association of Association for Academic Surgery membership with academic productivity NP Valsangkar, DP Milgrom, PJ Martin, JS Parett, MM Joshi, TA Zimmers, ... Journal of Surgical Research 205 (1), 163-168, 2016 | 10 | 2016 |
| Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration SU Morton, M Joshi, T Savic, AH Beggs, PB Agrawal PLoS One 10 (4), e0123829, 2015 | 10 | 2015 |
| The impact of members of the Society of University Surgeons on the scholarship of American surgery NP Valsangkar, JK Kays, DV Feliciano, PJ Martin, JS Parett, MM Joshi, ... Surgery 160 (1), 47-53, 2016 | 9 | 2016 |
| Current and future applications of artificial intelligence in cardiac CT M Joshi, DP Melo, D Ouyang, PJ Slomka, MC Williams, D Dey Current cardiology reports 25 (3), 109-117, 2023 | 8 | 2023 |
| Patient factors predict complications after partial nephrectomy: validation and calibration of the Preoperative Risk Evaluation for Partial Nephrectomy (PREP) score MJ Huynh, Y Wang, M Joshi, R Krasnow, AX Yu, M Mossanen, BI Chung, ... BJU international 127 (3), 369-374, 2021 | 7 | 2021 |
| Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype SM Rosen, M Joshi, T Hitt, AH Beggs, PB Agrawal Human molecular genetics 29 (12), 1996-2003, 2020 | 5 | 2020 |
| Increased tumorigenesis in ribosomal proteins L5 and S24 heterozygous mice S Kazerounian, P Ciarlini, R Ghazvinian, M Alberich-Jorda, D Yuan, ... Blood, The Journal of the American Society of Hematology 122 (21), 1227-1227, 2013 | 3 | 2013 |
Alan H. Beggs, PhDProfessor of Pediatrics, Harvard Medical School, Director The Manton CenterVerified email at enders.tch.harvard.edu
