| Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients R Cabanillas, M Diñeiro, GA Cifuentes, D Castillo, PC Pruneda, R Álvarez, ... BMC Medical Genomics 11, 1-17, 2018 | 88 | 2018 |
| Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy JP Ochoa, M Sabater-Molina, JM García-Pinilla, J Mogensen, ... Journal of the American College of Cardiology 72 (20), 2457-2467, 2018 | 73 | 2018 |
| Model predicting survival/exitus after traumatic brain injury: biomarker S100B 24h MC Gonzalez-Mao, A Reparaz-Andrade, V Del Campo-Perez, ... Clinical laboratory 57 (7), 587, 2011 | 26 | 2011 |
| ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed A Avena, S Puggelli, M Morris, A Cerny, AR Andrade, E Pareti, F Bihl, ... Digestive and Liver Disease 53 (3), 329-344, 2021 | 15 | 2021 |
| Spinocerebellar ataxia 27: clinical phenotype of twin sisters with FGF14 deletion A Amado, MO Blanco, A Repáraz-Andrade Neuropediatrics 48 (02), 131-131, 2017 | 13 | 2017 |
| Spinal muscular atrophy with respiratory distress type 1 (SMARD1): Report of a Spanish case with extended clinicopathological follow-up B San Millan, JM Fernandez, C Navarro, A Reparaz, S Teijeira Clinical Neuropathology 35 (2), 58, 2016 | 11 | 2016 |
| The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability F Gimeno-Ferrer, D Albuquerque, C Guzman Lujan, G Marcaida Benito, ... Journal of Human Genetics 64 (3), 221-231, 2019 | 9 | 2019 |
| Pontocerebellar hypoplasia secondary to CASK gene deletion: Case report L Rivas, Ó Blanco, C Torreira, A Repáraz, C Melcón, A Amado Revista Chilena de Pediatria 88 (4), 529-533, 2017 | 6 | 2017 |
| Neurodevelopmental disorders and array-based comparative genomic hybridization: sensitivity and specificity using a criteria checklist for genetic test performance A Amado-Puentes, A Reparaz-Andrade, A Del Campo-García, ... Neuropediatrics 50 (03), 164-169, 2019 | 3 | 2019 |
| S100B Protein as a Serum Marker of Survival After Traumatic Brain Injury (TBI) G Mao, A Reparaz Andrade, E Alvarez Garcia, P Posada Gonzalez, ... Clinical Chemistry 55 (6), A200-A200, 2009 | 3 | 2009 |
| Clear cell clusters in the kidney: A rare finding that should not be misdiagnosed as renal cell carcinoma JA Ortiz-Rey, C Fachal, L Juaneda-Magdalena, M Muñoz-Martín, ... Virchows Archiv 479 (1), 57-67, 2021 | 2 | 2021 |
| Estudios genéticos en diagnóstico prenatal. Recomendación (2018) P Carrasco Salas, C Gómez González, C Prior de Castro, ... Rev. lab. clín, 27-37, 2019 | 2 | 2019 |
| Hipoplasia pontocerebelosa secundaria a deleción en el gen CASK: Caso clínico L Rivas, Ó Blanco, C Torreira, A Repáraz, C Melcón, A Amado Revista chilena de pediatría 88 (4), 529-533, 2017 | 1 | 2017 |
| Spinocerebellar ataxia-27: description of the clinical phenotype of two twin sisters with a deletion in the FGF14 gene Ó Blanco-Barca, A Amado-Puentes, A Repáraz, C Melcón, C Torreira Revista de Neurologia 62 (5), 238-239, 2016 | 1 | 2016 |
| Biomarker S100B and Glasgow Coma Scale (GCS): Prognostic indicators in traumatic brain injury (TBI) C Gonzalez-Mao, A Reparaz-Andrade, E Alvarez-Garcia, PP Perez, ... CLINICAL CHEMISTRY AND LABORATORY MEDICINE 49, S355-S355, 2011 | 1 | 2011 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome due to NR2F1 gene deletion A Reparaz-Andrade, C Torreira Banzas, O Blanco Barca, M Blanco Perez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 949-950, 2019 | | 2019 |
| Utilidad de los arrays de hibridación genómica comparada (aCGH) en el diagnóstico de niños con discapacidad intelectual y trastornos del espectro autista AR Andrade Universidade de Santiago de Compostela, 2019 | | 2019 |
| Estudios genéticos en diagnóstico prenatal. Recomendación (2018) PC Salas, CG González, CP de Castro, AC Peredo, MS González, ... Revista del Laboratorio Clínico 12 (1), 27-37, 2019 | | 2019 |
| Evaluation of array comparative genomic hybridisation for patients with developmental dissabilities or congenital anomalies A Reparaz-Andrade, C Torreira Banzas, A Amado Puentes, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 326-327, 2018 | | 2018 |
| Neurodevelopment disorders and Array-CGH: Sensitivity and specificity using a checklist as criteria for performing a genetic test AA Puentes, AR Andrade, A del Campo García, MOB Barca, CT Banzas, ... European Journal of Paediatric Neurology 21, e59, 2017 | | 2017 |
