| Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa JD Eudy, MD Weston, SF Yao, DM Hoover, HL Rehm, M Ma-Edmonds, ... Science 280 (5370), 1753-1757, 1998 | 473 | 1998 |
| A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory … M Rodríguez‐Ballesteros, R Reynoso, M Olarte, M Villamar, C Morera, ... Human mutation 29 (6), 823-831, 2008 | 243 | 2008 |
| Reducing the clinical and public health burden of familial hypercholesterolemia: a global call to action KA Wilemon, J Patel, C Aguilar-Salinas, CD Ahmed, M Alkhnifsawi, ... Jama Cardiology 5 (2), 217-229, 2020 | 201 | 2020 |
| Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants AE Shearer, RW Eppsteiner, KT Booth, SS Ephraim, J Gurrola II, ... The American Journal of Human Genetics 95 (4), 445-453, 2014 | 172 | 2014 |
| Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I LM Astuto, MD Weston, CA Carney, DM Hoover, CWRJ Cremers, ... The American Journal of Human Genetics 67 (6), 1569-1574, 2000 | 91 | 2000 |
| Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41 WJ Kimberling, MD Weston, C Möller, A van Aarem, CWRJ Cremers, ... American journal of human genetics 56 (1), 216, 1995 | 83 | 1995 |
| Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability ML Tamayo, N Gelvez, M Rodriguez, S Florez, C Varon, D Medina, ... American Journal of Medical Genetics Part A 146 (8), 1026-1031, 2008 | 73 | 2008 |
| Usher syndrome: results of a screening program in Colombia ML Tamayo, JE Bernal, GE Tamayo, JL Frias, G Alvira, O Vergara, ... Clinical genetics 40 (4), 304-311, 1991 | 66 | 1991 |
| Allele-specific impairment of GJB2 expression by GJB6 deletion del (GJB6-D13S1854) J Rodriguez-Paris, ML Tamayo, N Gelvez, I Schrijver PLoS One 6 (6), e21665, 2011 | 52 | 2011 |
| A Colombian family with X-linked juvenile retinoschisis with three affected females: finding of a frameshift mutation R Mendoza-Londono, KT Hiriyanna, EL Bingham, F Rodriguez, ... Ophthalmic genetics 20 (1), 37-43, 1999 | 48 | 1999 |
| Neuroradiology and clinical aspects of Usher syndrome ML Tamayo, C Maldonado, SL Plaza, GM Alvira, GE Tamayo, ... Clinical genetics 50 (3), 126-132, 1996 | 43 | 1996 |
| X-linked retinoschisis in three females from the same family: a phenotype–genotype correlation FJ Rodriguez, A Rodriguez, R Mendoza-Londono, ML Tamayo Retina 25 (1), 69-74, 2005 | 42 | 2005 |
| Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: results of a screening program ML Tamayo, M Olarte, N Gelvez, M Gómez, JL Frías, JE Bernal, S Florez, ... International journal of pediatric otorhinolaryngology 73 (1), 97-101, 2009 | 37 | 2009 |
| Study of the etiology of deafness in an institutionalized population in Colombia ML Tamayo, JE Bernal, GE Tamayo, JL Frias American journal of medical genetics 44 (4), 405-408, 1992 | 35 | 1992 |
| Relação entre o autoconceito e a avaliação percebida de um parceiro significativo A Tamayo Arquivos Brasileiros de Psicologia 37 (1), 88-96, 1985 | 31 | 1985 |
| Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: extension of the spectrum of midline brain anomalies MR MacDonald, GB Schaefer, AH Olney, M Tamayo, JL Frías American journal of medical genetics 46 (6), 706-711, 1993 | 26 | 1993 |
| Deafness on the island of Providencia--Colombia: Different etiology, different genetic counseling MC Lattig, N Gelvez, SL Plaza, G Tamayo, JI Uribe, I Salvatierra, ... Genetic Counseling 19 (4), 403, 2008 | 20 | 2008 |
| Alteraciones visuales y auditivas de origen genético ML Tamayo, J Bernal Pontificia Universidad Javeriana, 1998 | 19 | 1998 |
| Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families ML Tamayo, G Lopez, N Gelvez, D Medina, WJ Kimberling, V Rodríguez, ... Genetic Counseling 19 (1), 15, 2008 | 17 | 2008 |
| Social, familial and medical aspects of Usher syndrome in Colombia. ML Tamayo, A Rodriguez, R Molina, M Martinez, JE Bernal Genetic Counseling (Geneva, Switzerland) 8 (3), 235-240, 1997 | 13 | 1997 |
Jaime FriasUniversity of South Floridaยืนยันอีเมลแล้วที่ usf.edu
