Oscar Diaz-Horta
Oscar Diaz-Horta
John P. Hussman Institute for Human Genomics University of Miami | Miller School of Medicine
Verified email at med.miami.edu
TitleCited byYear
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
O Diaz-Horta, D Duman, J Foster II, A Sırmacı, M Gonzalez, N Mahdieh, ...
PloS one 7 (11), e50628, 2012
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss
KO Yariz, D Duman, CZ Seco, J Dallman, M Huang, TA Peters, A Sirmaci, ...
The American Journal of Human Genetics 91 (5), 872-882, 2012
Type 1 diabetes islet associated antibodies in subjects infected by echovirus 16
E Cabrera-Rode, L Sarmiento, C Tiberti, G Molina, J Barrios, ...
Diabetologia 46 (10), 1348-1353, 2003
Occurrence of enterovirus RNA in serum of children with newly diagnosed type 1 diabetes and islet cell autoantibody-positive subjects in a population with a low incidence of …
L Sarmiento, E Cabrera-Rode, L Lekuleni, I Cuba, G Molina, M Fonseca, ...
Autoimmunity 40 (7), 540-545, 2007
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis
W Thorson, O Diaz-Horta, J Foster, M Spiliopoulos, R Quintero, A Farooq, ...
Human genetics 133 (6), 737-742, 2014
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort
G Bademci, J Foster II, N Mahdieh, M Bonyadi, D Duman, FB Cengiz, ...
Genetics in Medicine 18 (4), 364, 2016
DNASE1L3 Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome
ZB Özçakar, J Foster, O Diaz‐Horta, O Kasapcopur, YS Fan, F Yalçınkaya, ...
Arthritis & Rheumatism 65 (8), 2183-2189, 2013
Na/Ca exchanger overexpression induces endoplasmic reticulum–related apoptosis and caspase-12 activation in insulin-releasing BRIN-BD11 cells
O Diaz-Horta, A Kamagate, A Herchuelz, F Van Eylen
Diabetes 51 (6), 1815-1824, 2002
FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing
O Diaz-Horta, A Subasioglu-Uzak, M Grati, A DeSmidt, J Foster, L Cao, ...
Proceedings of the National Academy of Sciences 111 (27), 9864-9868, 2014
Slowly progressing type 1 diabetes: persistence of islet cell autoantibodies is related to glibenclamide treatment
E Cabrera-Rode, P Perich, O Diaz-Horta, C Tiberti, G Molina, C Arranz, ...
Autoimmunity 35 (7), 469-474, 2002
Whole-exome sequencing and its impact in hereditary hearing loss
T Atik, G Bademci, O Diaz-Horta, SH Blanton, M Tekin
Genetics research 97, 2015
SLITRK6 mutations cause myopia and deafness in humans and mice
M Tekin, BA Chioza, Y Matsumoto, O Diaz-Horta, HE Cross, D Duman, ...
The Journal of clinical investigation 123 (5), 2094-2102, 2013
Admixture estimates for the population of Havana City
A Cintado, O Companioni, M Nazabal, H Camacho, A Ferrer, ...
Annals of Human Biology 36 (3), 350-360, 2009
Islet cell related antibodies and type 1 diabetes associated with echovirus 30 epidemic: a case report
E Cabrera‐Rode, L Sarmiento, G Molina, C Pérez, C Arranz, JA Galvan, ...
Journal of medical virology 76 (3), 373-377, 2005
Increased retinal endothelial cell monolayer permeability induced by the diabetic milieu: role of advanced non‐enzymatic glycation and polyol pathway activation
G Leto, F Pricci, L Amadio, C Iacobini, S Cordone, O Diaz‐Horta, ...
Diabetes/metabolism research and reviews 17 (6), 448-458, 2001
Effect of standard nicotinamide in the prevention of type 1 diabetes in first degree relatives of persons with type 1 diabetes
E Cabrera-Rode, G Molina, C Arranz, M Vera, P González, R Suárez, ...
Autoimmunity 39 (4), 333-340, 2006
Overexpression of the Na/Ca exchanger shapes stimulus-induced cytosolic Ca2+ oscillations in insulin-producing BRIN-BD11 cells
F Van Eylen, OD Horta, A Barez, A Kamagate, PR Flatt, R Macianskiene, ...
Diabetes 51 (2), 366-375, 2002
The circulating insulin‐like growth factor system in children with coeliac disease: an additional marker for disease activity
N Locuratolo, G Pugliese, F Pricci, G Romeo, P Mariani, O Diaz‐Horta, ...
Diabetes/metabolism research and reviews 15 (4), 254-260, 1999
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
K Walz, D Cohen, PM Neilsen, J Foster, F Brancati, K Demir, R Fisher, ...
Human genetics 134 (2), 181-190, 2015
Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss
G Bademci, O Diaz-Horta, S Guo, D Duman, D Van Booven, J Foster II, ...
Genetic testing and molecular biomarkers 18 (9), 658-661, 2014
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