| Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome MC Manzini, DE Tambunan, RS Hill, WY Tim, TM Maynard, EL Heinzen, ... The American Journal of Human Genetics 91 (3), 541-547, 2012 | 215 | 2012 |
| Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy M Yuen, SA Sandaradura, JJ Dowling, AS Kostyukova, N Moroz, ... The Journal of clinical investigation 124 (11), 4693-4708, 2014 | 183 | 2014 |
| Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy VA Gupta, G Ravenscroft, R Shaheen, EJ Todd, LC Swanson, M Shiina, ... The American Journal of Human Genetics 93 (6), 1108-1117, 2013 | 177 | 2013 |
| Kelch proteins: emerging roles in skeletal muscle development and diseases VA Gupta, AH Beggs Skeletal muscle 4, 1-12, 2014 | 148 | 2014 |
| The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies V Gupta, G Kawahara, SR Gundry, AT Chen, WI Lencer, Y Zhou, LI Zon, ... Human Molecular Genetics 20 (9), 1712-1725, 2011 | 116 | 2011 |
| Analysis of Skeletal Muscle Defects in Larval Zebrafish by Birefringence and Touch-evoke Escape Response Assays. LL Smith, AH Beggs, VA Gupta J Vis Exp 82, 2013 | 92 | 2013 |
| POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations S Di Costanzo, A Balasubramanian, HL Pond, A Rozkalne, C Pantaleoni, ... Human molecular genetics 23 (21), 5781-5792, 2014 | 81 | 2014 |
| Role of water structure on phase separation in polyelectrolyte–polyethyleneglycol based aqueous two-phase systems V Gupta, S Nath, S Chand Polymer 43 (11), 3387-3390, 2002 | 81 | 2002 |
| A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish VA Gupta, G Kawahara, JA Myers, AT Chen, TE Hall, MC Manzini, ... Public Library of Science 7 (8), e43794, 2012 | 70 | 2012 |
| Mutation‐specific effects on thin filament length in thin filament myopathy JM Winter, B Joureau, EJ Lee, B Kiss, M Yuen, VA Gupta, CT Pappas, ... Annals of neurology 79 (6), 959-969, 2016 | 66 | 2016 |
| GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder HE Shamseldin, AH Bennett, M Alfadhel, V Gupta, FS Alkuraya Human genetics 135, 245-251, 2016 | 48 | 2016 |
| Prednisolone rescues Duchenne muscular dystrophy phenotypes in human pluripotent stem cell–derived skeletal muscle in vitro Z Al Tanoury, JF Zimmerman, J Rao, D Sieiro, HM McNamara, T Cherrier, ... Proceedings of the National Academy of Sciences 118 (28), e2022960118, 2021 | 47 | 2021 |
| Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment MW Lawlor, MS Alexander, MG Viola, H Meng, R Joubert, V Gupta, ... The American journal of pathology 181 (3), 961-968, 2012 | 47 | 2012 |
| α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms V Gupta, M Discenza, JR Guyon, LM Kunkel, AH Beggs The FASEB Journal 26 (5), 1892, 2012 | 47 | 2012 |
| Modification of Msx1 by SUMO-1 V Gupta, M Bei Biochemical and biophysical research communications 345 (1), 74-77, 2006 | 46 | 2006 |
| Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans HE Shamseldin, LL Smith, A Kentab, H Alkhalidi, B Summers, H Alsedairy, ... Human genetics 135 (1), 21-30, 2016 | 44 | 2016 |
| ACTN2 mutations cause “Multiple structured Core Disease” (MsCD) X Lornage, NB Romero, CA Grosgogeat, E Malfatti, S Donkervoort, ... Acta Neuropathologica 137, 501-519, 2019 | 43 | 2019 |
| RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes AH Bennett, MF O’Donohue, SR Gundry, AT Chan, J Widrick, I Draper, ... PLoS Genetics 14 (3), e1007226, 2018 | 39 | 2018 |
| Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy LL Smith, VA Gupta, AH Beggs Human molecular genetics 23 (13), 3566-3578, 2014 | 36 | 2014 |
| Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish VA Gupta, K Hnia, LL Smith, SR Gundry, JE McIntire, J Shimazu, J Bass R, ... PLOS Genetics, 2013 | 35 | 2013 |
Alan H. Beggs, PhDProfessor of Pediatrics, Harvard Medical School, Director The Manton CenterAdresse e-mail validée de enders.tch.harvard.edu