| The Matchmaker Exchange: a platform for rare disease gene discovery AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ... Human mutation 36 (10), 915-921, 2015 | 488 | 2015 |
| Microstructural study of sulfate attack on ordinary and limestone Portland cements at ambient temperature EF Irassar, VL Bonavetti, M González Cement and Concrete Research 33 (1), 31-41, 2003 | 285 | 2003 |
| De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S Syrbe, U Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ... Nature genetics 47 (4), 393-399, 2015 | 284 | 2015 |
| PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier, TB Haack, ... Brain 137 (1), 69-77, 2014 | 223 | 2014 |
| Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia C Tesson, M Nawara, MAM Salih, R Rossignol, MS Zaki, M Al Balwi, ... The American Journal of Human Genetics 91 (6), 1051-1064, 2012 | 214 | 2012 |
| Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder AJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel, MA Gonzalez, ... Nature genetics 47 (8), 926-932, 2015 | 208 | 2015 |
| Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia E Martin, R Schüle, K Smets, A Rastetter, A Boukhris, JL Loureiro, ... The American Journal of Human Genetics 92 (2), 238-244, 2013 | 197 | 2013 |
| Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia EC Oates, AM Rossor, M Hafezparast, M Gonzalez, F Speziani, ... The American Journal of Human Genetics 92 (6), 965-973, 2013 | 186 | 2013 |
| Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 G Montenegro, AP Rebelo, J Connell, R Allison, C Babalini, M D’Aloia, ... The Journal of clinical investigation 122 (2), 538-544, 2012 | 185 | 2012 |
| Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 AR Foley, MP Menezes, A Pandraud, MA Gonzalez, A Al-Odaib, ... Brain 137 (1), 44-56, 2014 | 183 | 2014 |
| Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia A Boukhris, R Schule, JL Loureiro, CM Lourenço, E Mundwiller, ... The American Journal of Human Genetics 93 (1), 118-123, 2013 | 182 | 2013 |
| The philosophy of praxis AS Vazquez, M Gonzalez | 174 | 1977 |
| Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss O Diaz-Horta, D Duman, J Foster, A Sırmacı, M Gonzalez, N Mahdieh, ... PloS one 7 (11), e50628, 2012 | 170 | 2012 |
| Effects of mid-summer transport duration on pre-and post-slaughter performance and pork quality in Mexico D Mota-Rojas, M Becerril, C Lemus, P Sánchez, M González, SA Olmos, ... Meat Science 73 (3), 404-412, 2006 | 160 | 2006 |
| Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2 M Gonzalez, H McLaughlin, H Houlden, M Guo, L Yo-Tsen, ... Journal of Neurology, Neurosurgery & Psychiatry 84 (11), 1247-1249, 2013 | 149 | 2013 |
| A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease MA Gonzalez, SM Feely, F Speziani, AV Strickland, M Danzi, C Bacon, ... Brain 137 (11), 2897-2902, 2014 | 141 | 2014 |
| Thaumasite formation in limestone filler cements exposed to sodium sulphate solution at 20 C EF Irassar, VL Bonavetti, MA Trezza, MA González Cement and Concrete Composites 27 (1), 77-84, 2005 | 132 | 2005 |
| Ettringite formation in low C3A Portland cement exposed to sodium sulfate solution MA Gonzalez, EF Irassar Cement and Concrete Research 27 (7), 1061-1071, 1997 | 126 | 1997 |
| Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy N Norton, D Li, E Rampersaud, A Morales, ER Martin, S Zuchner, S Guo, ... Circulation: Cardiovascular Genetics 6 (2), 144-153, 2013 | 124 | 2013 |
| Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration M Synofzik, TB Haack, R Kopajtich, M Gorza, D Rapaport, M Greiner, ... The American Journal of Human Genetics 95 (6), 689-697, 2014 | 122 | 2014 |
Adriana RebeloUniversity of MiamiVerified email at med.miami.edu
