| A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and … S Bione, C Sala, C Manzini, G Arrigo, O Zuffardi, S Banfi, G Borsani, ... The American Journal of Human Genetics 62 (3), 533-541, 1998 | 344 | 1998 |
| 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 | 211 | 2012 |
| Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan E Stevens, KJ Carss, S Cirak, AR Foley, S Torelli, T Willer, DE Tambunan, ... The American Journal of Human Genetics 92 (3), 354-365, 2013 | 192 | 2013 |
| What disorders of cortical development tell us about the cortex: one plus one does not always make two MC Manzini, CA Walsh Current opinion in genetics & development 21 (3), 333-339, 2011 | 176 | 2011 |
| Structure of the STRA6 receptor for retinol uptake Y Chen, OB Clarke, J Kim, S Stowe, YK Kim, Z Assur, M Cavalier, ... Science 353 (6302), aad8266, 2016 | 150 | 2016 |
| COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans C Labelle-Dumais, DJ Dilworth, EP Harrington, M de Leau, D Lyons, ... PLoS genetics 7 (5), e1002062, 2011 | 143 | 2011 |
| Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B S Bione, F Rizzolio, C Sala, R Ricotti, M Goegan, MC Manzini, R Battaglia, ... Human reproduction 19 (12), 2759-2766, 2004 | 125 | 2004 |
| Microsampling capillary electrophoresis mass spectrometry enables single-cell proteomics in complex tissues: developing cell clones in live Xenopus laevis and zebrafish embryos C Lombard-Banek, SA Moody, MC Manzini, P Nemes Analytical chemistry 91 (7), 4797-4805, 2019 | 113 | 2019 |
| Isolation and culture of post-natal mouse cerebellar granule neuron progenitor cells and neurons HY Lee, LA Greene, CA Mason, MC Manzini JoVE (Journal of Visualized Experiments), e990, 2009 | 103 | 2009 |
| Kainate receptors expressed by a subpopulation of developing nociceptors rapidly switch from high to low Ca2+ permeability CJ Lee, H Kong, MC Manzini, C Albuquerque, MV Chao, AB MacDermott Journal of Neuroscience 21 (13), 4572-4581, 2001 | 98 | 2001 |
| 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 | 79 | 2014 |
| CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis MC Manzini, L Xiong, R Shaheen, DE Tambunan, S Di Costanzo, ... Cell reports 8 (3), 647-655, 2014 | 76 | 2014 |
| Ethnically diverse causes of Walker‐Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East M Chiara Manzini, D Gleason, BS Chang, R Sean Hill, BJ Barry, ... Human mutation 29 (11), E231-E241, 2008 | 73 | 2008 |
| 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 | 68 | 2012 |
| Current perspectives in autism spectrum disorder: from genes to therapy M Chahrour, BJ O'Roak, E Santini, RC Samaco, RJ Kleiman, MC Manzini Journal of Neuroscience 36 (45), 11402-11410, 2016 | 67 | 2016 |
| Tapered-tip capillary electrophoresis nano-electrospray ionization mass spectrometry for ultrasensitive proteomics: the mouse cortex SB Choi, M Zamarbide, MC Manzini, P Nemes Journal of the American Society for Mass Spectrometry 28 (4), 597-607, 2016 | 65 | 2016 |
| Mutations in INPP5K cause a form of congenital muscular dystrophy overlapping Marinesco-Sjögren syndrome and dystroglycanopathy DPS Osborn, HL Pond, N Mazaheri, J Dejardin, CJ Munn, K Mushref, ... The American Journal of Human Genetics 100 (3), 537-545, 2017 | 60 | 2017 |
| The stop signal revised: immature cerebellar granule neurons in the external germinal layer arrest pontine mossy fiber growth MC Manzini, MS Ward, Q Zhang, MD Lieberman, CA Mason Journal of Neuroscience 26 (22), 6040-6051, 2006 | 48 | 2006 |
| Abrogated Freud-1/Cc2d1a repression of 5-HT1A autoreceptors induces fluoxetine-resistant anxiety/depression-like behavior F Vahid-Ansari, M Daigle, MC Manzini, KF Tanaka, R Hen, SD Geddes, ... Journal of neuroscience 37 (49), 11967-11978, 2017 | 46 | 2017 |
| Developmental and degenerative features in a complicated spastic paraplegia MC Manzini, A Rajab, TM Maynard, GH Mochida, WH Tan, R Nasir, ... Annals of neurology 67 (4), 516-525, 2010 | 45 | 2010 |
Christopher A WalshBoston Children's Hospital在 childrens.harvard.edu 的电子邮件经过验证
