| A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing … FJ Del Castillo, M Rodriguez-Ballesteros, A Alvarez, T Hutchin, ... Journal of medical genetics 42 (7), 588-594, 2005 | 373 | 2005 |
| Prevalence and evolutionary origins of the del (GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study I Del Castillo, MA Moreno-Pelayo, FJ Del Castillo, Z Brownstein, S Marlin, ... The American Journal of Human Genetics 73 (6), 1452-1458, 2003 | 352 | 2003 |
| Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. R De Gasperi, MAG Sosa, EL Sartorato, S Battistini, H MacFarlane, ... American journal of human genetics 59 (6), 1233, 1996 | 112 | 1996 |
| A novel DFNB1 deletion allele supports the existence of a distant cis‐regulatory region that controls GJB2 and GJB6 expression E Wilch, H Azaiez, RA Fisher, J Elfenbein, A Murgia, R Birkenhäger, ... Clinical genetics 78 (3), 267-274, 2010 | 98 | 2010 |
| Connexin 26 35delG does not represent a mutational hotspot CR Rothrock, A Murgia, EL Sartorato, E Leonardi, S Wei, SL Lebeis, ... Human genetics 113, 18-23, 2003 | 73 | 2003 |
| Determination of the frequency of the 35delG allele in Brazilian neonates EL Sartorato, E Gottardi, CA De Oliveira, LA Magna, ... Clinical Genetics 58 (4), 339-340, 2000 | 58 | 2000 |
| Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients CA Oliveira, AT Maciel‐Guerra, EL Sartorato Clinical genetics 61 (5), 354-358, 2002 | 57 | 2002 |
| G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart–Pumphrey syndrome F Alexandrino, EL Sartorato, AP Marques‐de‐Faria, CE Steiner American journal of medical genetics Part A 136 (3), 282-284, 2005 | 45 | 2005 |
| Newborn hearing screening and genetic testing in 8974 Brazilian neonates K de AB Nivoloni, SM da Silva-Costa, MCA Pomílio, T Pereira, KC Lopes, ... International journal of pediatric otorhinolaryngology 74 (8), 926-929, 2010 | 42 | 2010 |
| Molecular genetics of non-syndromic deafness VB Piatto, ECT Nascimento, F Alexandrino, CA Oliveira, ACP Lopes, ... Revista Brasileira de Otorrinolaringologia 71, 216-223, 2005 | 41 | 2005 |
| Molecular genetics study of deafness in Brazil: 8‐year experience CA de Oliveira, F Alexandrino, TV Christiani, CE Steiner, JLR Cunha, ... American Journal of Medical Genetics Part A 143 (14), 1574-1579, 2007 | 39 | 2007 |
| Prevalence of the GJB2 mutations and the del (GJB6-D13S1830) mutation in Brazilian patients with deafness VB Piatto, EMG Bertollo, EL Sartorato, JV Maniglia Hearing Research 196 (1-2), 87-93, 2004 | 38 | 2004 |
| Frequency of the 35delG mutation in the GJB2 gene in samples of European, Asian, and African Brazilians CA Oliveira, F Alexandrino, K Abe-Sandes, WA Silva Jr, ... Human biology, 313-316, 2004 | 38 | 2004 |
| A investigação genética na surdez hereditária não-sindrômica LN Pfeilsticker, G Stole, EL Sartorato, D Delfino, ATM Guerra Revista Brasileira de Otorrinolaringologia 70, 182-186, 2004 | 37 | 2004 |
| Molecular basis of late‐life globoid cell leukodystrophy R De Gasperi, MA Gama Sosa, E Sartorato, S Battistini, S Raghavan, ... Human mutation 14 (3), 256-262, 1999 | 37 | 1999 |
| Allelic frequencies of the 35delG mutation of the GJB2 gene in different Brazilian regions CA Oliveira, CJ Pimpinati, F Alexandrino, LA Magna, AT Maciel-Guerra, ... Genetic testing 11 (1), 1-3, 2007 | 32 | 2007 |
| Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology MCCCCM Svidnicki, SM Silva-Costa, PZ Ramos, NZP Dos Santos, ... BMC medical genetics 16, 1-11, 2015 | 31 | 2015 |
| Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platform FTA Martins, PZ Ramos, MCCM Svidnicki, AM Castilho, EL Sartorato BMC medical genetics 14, 1-9, 2013 | 30 | 2013 |
| Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness F Alexandrino, CA Oliveira, FC Reis, AT Maciel-Guerra, EL Sartorato Journal of Applied Genetics 45 (2), 249-254, 2004 | 28 | 2004 |
| Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy MS Amaral-Fernandes, AM Marcondes, PMAD Miranda, ... Molecular vision 17, 3175, 2011 | 27 | 2011 |
