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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
Title
Cited by
Cited by
Year
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
1702012
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort
G Bademci, J Foster, N Mahdieh, M Bonyadi, D Duman, FB Cengiz, ...
Genetics in Medicine 18 (4), 364-371, 2016
1522016
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
1362013
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
1222012
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, 737-742, 2014
1012014
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
762014
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, 1348-1353, 2003
762003
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
742007
Whole-exome sequencing and its impact in hereditary hearing loss
T Atik, G Bademci, O Diaz-Horta, SH Blanton, M Tekin
Genetics research 97, e4, 2015
722015
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
662013
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, 181-190, 2015
622015
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
532002
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice
O Diaz-Horta, C Abad, L Sennaroglu, J Foster, A DeSmidt, G Bademci, ...
Proceedings of the National Academy of Sciences 113 (21), 5993-5998, 2016
482016
Variations in multiple syndromic deafness genes mimic non-syndromic hearing loss
G Bademci, FB Cengiz, J Foster Ii, D Duman, L Sennaroglu, O Diaz-Horta, ...
Scientific reports 6 (1), 31622, 2016
452016
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
442009
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
432005
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
422002
Aspectos epidemiológicos de la prediabetes, diagnóstico y clasificación
O Díaz Díaz, E Cabrera Rode, N Orlandi González, MJ Araña Rosaínz, ...
Revista Cubana de Endocrinología 22 (1), 3-10, 2011
412011
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
392006
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
362014
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