| Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice A Keller, A Westenberger, MJ Sobrido, M Garcia-Murias, A Domingo, ... Nature genetics 45 (9), 1077-1082, 2013 | 316 | 2013 |
| A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapping to SCA37, causes spinocerebellar ataxia AI Seixas, JR Loureiro, C Costa, A Ordóñez-Ugalde, H Marcelino, ... The American Journal of Human Genetics 101 (1), 87-103, 2017 | 139 | 2017 |
| The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles PM Boone, B Yuan, IM Campbell, JC Scull, MA Withers, BC Baggett, ... The American Journal of Human Genetics 95 (2), 143-161, 2014 | 104 | 2014 |
| Medical genomics: The intricate path from genetic variant identification to clinical interpretation B Quintáns, A Ordóñez-Ugalde, P Cacheiro, A Carracedo, MJ Sobrido Applied & translational genomics 3 (3), 60-67, 2014 | 59 | 2014 |
| Truncating mutations in UBAP1 cause hereditary spastic paraplegia MAF Fard, AP Rebelo, E Buglo, H Nemati, H Dastsooz, I Gehweiler, ... The American Journal of Human Genetics 104 (4), 767-773, 2019 | 53 | 2019 |
| PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia B Ozes, N Karagoz, R Schüle, A Rebelo, MJ Sobrido, F Harmuth, ... Clinical genetics 92 (5), 534-539, 2017 | 46 | 2017 |
| The geographic mosaic of Ecuadorian Y-chromosome ancestry U Toscanini, A Gaviria, J Pardo-Seco, A Gómez-Carballa, F Moscoso, ... Forensic Science International: Genetics 33, 59-65, 2018 | 28 | 2018 |
| Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4 FJ Navas-Sánchez, A Fernández-Pena, D Martin de Blas, ... Journal of Neurology 268, 2429-2440, 2021 | 13 | 2021 |
| Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population US Esperón-Moldes, J Pardo-Seco, M Montalván-Suárez, L Fachal, ... Scientific Reports 9 (1), 7175, 2019 | 10 | 2019 |
| Evaluating the calling performance of a rare disease NGS panel for single nucleotide and copy number variants P Cacheiro, A Ordóñez-Ugalde, B Quintáns, S Piñeiro-Hermida, J Amigo, ... Molecular Diagnosis & Therapy 21, 303-313, 2017 | 9 | 2017 |
| Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study FJ Navas-Sánchez, L Marcos-Vidal, DM de Blas, A Fernández-Pena, ... Journal of neurology, 1-15, 2022 | 5 | 2022 |
| A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations M Montalván‐Suárez, US Esperón‐Moldes, L Rodríguez‐Pazos, ... Molecular Genetics & Genomic Medicine 7 (5), e608, 2019 | 3 | 2019 |
| bdetection of gene dosage alterations in patients with spinocerebellar disease using an exon-dense snp array B Quintans, F Barros, I Quintela, A Ordonez-Ugalde, C Castro-Fernandez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1433-1434, 2019 | | 2019 |
| Adrenomyeloneuropathy Diagnosed in a Young Female with Spastic Paraparesis after Full Exome Sequencing (P2. 064) T Garcia, A Ordoñez Ugalde, B Quintans, MJ Sobrido, MC Amigo, ... Neurology 82 (10_supplement), P2. 064, 2014 | | 2014 |
| Lack of Access to Genetic-Relative Family Health History: A Health Disparity for Adoptees? B Quintans, A Ordonez-Ugalde, P Cacheiro, A Carracedo, SL Van Driest, ... | | |
