The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 313 | 2017 |
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy J Desir, G Moya, O Reish, N Van Regemorter, H Deconinck, KL David, ... Journal of medical genetics 44 (5), 322-326, 2007 | 132 | 2007 |
High frequency and founder effect of the CYP3A4* 20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme M Apellániz-Ruiz, L Inglada-Pérez, MEG Naranjo, L Sánchez, ... The pharmacogenomics journal 15 (3), 288-292, 2015 | 71 | 2015 |
Interethnic Variability in CYP2D6, CYP2C9, and CYP2C19 Genes and Predicted Drug Metabolism Phenotypes Among 6060 Ibero- and Native Americans: RIBEF … MEG Naranjo, F Rodrigues-Soares, EM Penas-Lledo, E Tarazona-Santos, ... Omics: a journal of integrative biology 22 (9), 575-588, 2018 | 40 | 2018 |
Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy BD Kuchinka, IJ Barrett, G Moya, JM Sanchez, S Langlois, SL Yong, ... Prenatal diagnosis 21 (1), 36-39, 2001 | 40 | 2001 |
Severe fetal malformations associated with trisomy 16 confined to the placenta JM Sánchez, S López De Díaz, MJ Panal, G Moya, A Kenny, D Iglesias, ... Prenatal Diagnosis: Published in Affiliation With the International Society …, 1997 | 33 | 1997 |
Genomic Ancestry, CYP2D6, CYP2C9, and CYP2C19 Among Latin Americans F Rodrigues‐Soares, EM Peñas‐Lledó, E Tarazona‐Santos, ... Clinical Pharmacology & Therapeutics 107 (1), 257-268, 2020 | 31 | 2020 |
High frequency of CYP2D6 ultrarapid metabolizer genotypes in an Ashkenazi Jewish population from Argentina G Moya, P Dorado, V Ferreiro, MEG Naranjo, EM Peñas-Lledó, A LLerena The Pharmacogenomics Journal 17 (4), 378-381, 2017 | 18 | 2017 |
Pharmacogenetics and ethnicity: relevance for clinical implementation, clinical trials, pharmacovigilance and drug regulation in Latin America M Sosa-Macías, E Teran, W Waters, MM Fors, C Altamirano, H Jung-Cook, ... Pharmacogenomics 17 (16), 1741-1747, 2016 | 17 | 2016 |
Fluconazole teratogenicity JM Sanchez, G Moya Prenatal Diagnosis: Published in Affiliation With the International Society …, 1998 | 17 | 1998 |
La aplicación del principio de subsidiariedad en el empoderamiento de los pacientes para el cuidado de la salud: el caso de las enfermedades raras en Argentina G Moya Acta bioethica 18 (2), 181-188, 2012 | 14 | 2012 |
Prenatal diagnosis of L1 cell adhesion molecule mutations: Capabilities and limitations GE Moya, RC Michaelis, LW Holloway, JM Sanchez Fetal diagnosis and therapy 17 (2), 115-119, 2002 | 13 | 2002 |
Population pharmacogenetics of Ibero-Latinoamerican populations (MESTIFAR 2014) M Sosa-Macias, GE Moya, A LLerena, R Ramírez, E Terán, ... Pharmacogenomics 16 (7), 673-676, 2015 | 12 | 2015 |
Challenges and Opportunities for Clinical Pharmacogenetic Research Studies in Resource-Limited Settings: Conclusions from the Council for International Organizations of Medical … E Peñas-LLedó, E Terán, M Sosa-Macías, C Galaviz-Hernández, JP Gil, ... Clinical Therapeutics 42 (8), 1595-1610. e5, 2020 | 10 | 2020 |
Diagnóstico prenatal en el marco de la bioética personalista ontológica: percepción del uso, actitudes y requerimientos de los pacientes en un centro privado de la ciudad de … G Moya EDUCA, 2012 | 6 | 2012 |
Cadasil: a case with molecular diagnosis MC Zurrú, C Parera, G Moya, C Giovanelli, O Genovese, E Gatto Medicina 62 (1), 48-52, 2002 | 6 | 2002 |
Valoración ética de las nuevas opciones reproductivas en las enfermedades mitocondriales G Moya Acta bioethica 22 (2), 213-220, 2016 | 4 | 2016 |
Derechos de los pacientes con enfermedades que se asocien con discapacidad: marco legal actual G Moya Archivos argentinos de pediatría 114 (4), 355-360, 2016 | 4 | 2016 |
Valoración ética del diagnóstico de enfermedades fundantes de discapacidad en la vida prenatal G Moya Acta bioethica 20 (1), 31-40, 2014 | 4 | 2014 |
Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three … PT Romero, R Donoso, P López, A Miranda, L Rodríguez, ... Ophthalmic genetics 40 (2), 91-98, 2019 | 2 | 2019 |