| 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 | 310 | 2017 |
| Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome RL Collins, H Brand, CE Redin, C Hanscom, C Antolik, MR Stone, ... Genome biology 18, 1-21, 2017 | 197 | 2017 |
| SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ND Shaw, H Brand, ZA Kupchinsky, H Bengani, L Plummer, TI Jones, ... Nature genetics 49 (2), 238-248, 2017 | 166 | 2017 |
| Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1 AM Lopes, KI Aston, E Thompson, F Carvalho, J Gonçalves, N Huang, ... PLoS genetics 9 (3), e1003349, 2013 | 147 | 2013 |
| Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR DJC Tai, A Ragavendran, P Manavalan, A Stortchevoi, CM Seabra, ... Nature neuroscience 19 (3), 517-522, 2016 | 84 | 2016 |
| Effects of a new bioceramic material on human apical papilla cells DB Sequeira, CM Seabra, PJ Palma, AL Cardoso, J Peça, JM Santos Journal of Functional Biomaterials 9 (4), 74, 2018 | 49 | 2018 |
| Regeneration of pulp-dentin complex using human stem cells of the apical papilla: In vivo interaction with two bioactive materials DB Sequeira, AR Oliveira, CM Seabra, PJ Palma, C Ramos, ... Clinical Oral Investigations 25, 5317-5329, 2021 | 43 | 2021 |
| A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia CM Seabra, S Quental, AP Neto, F Carvalho, J Gonçalves, JP Oliveira, ... Reproductive biomedicine online 29 (3), 388-391, 2014 | 20 | 2014 |
| The Mutational Spectrum of WT1 in Male Infertility CM Seabra, S Quental, AC Lima, F Carvalho, J Gonçalves, S Fernandes, ... The Journal of urology 193 (5), 1709-1715, 2015 | 16 | 2015 |
| Social subordination induced by early life adversity rewires inhibitory control of the prefrontal cortex via enhanced Npy1r signaling LO Franco, MJ Carvalho, J Costa, PA Ferreira, JR Guedes, R Sousa, ... Neuropsychopharmacology 45 (9), 1438-1447, 2020 | 15 | 2020 |
| Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons CM Seabra, T Aneichyk, S Erdin, DJC Tai, CEF De Esch, P Razaz, Y An, ... Molecular autism 11, 1-15, 2020 | 11 | 2020 |
| A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings CM Seabra, N Szoko, S Erdin, A Ragavendran, A Stortchevoi, P Maciel, ... American Journal of Medical Genetics Part A 173 (9), 2478-2484, 2017 | 7 | 2017 |
| A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia M Martins, AR Oliveira, S Martins, JP Vieira, P Perdigão, AR Fernandes, ... International Journal of Molecular Sciences 24 (16), 12603, 2023 | | 2023 |
| Brain Gain–Discovering Neurosciences: A digital education outreach project for higher education students M Laranjo, S Amaral, C Caetano, S Santos, R Campos, J Peça, ... The Biochemist 45 (2), 21-27, 2023 | | 2023 |
| Modeling the neurogenetics of neurodevelopmental disorders-hints from brain organoids CM Seabra, AR Oliveira, JR Guedes, AL Cardoso, DB Sequeira, ... MEDICINE 99 (9), 2020 | | 2020 |
| Discovering pathways underlying autism spectrum disorder upon loss-of-function of chromatin-related genes CM Seabra | | 2017 |
| Genomic landscape of balanced cytogenetic abnormalities in subjects with multiple congenital anomalies C Redin, H Brand, R Collins, C Hanscom, P Vamsee, T Kammin, ... European Journal Human Genetics Conference, 21-24 May 2016, 2016 | | 2016 |
| An Alu-mediated 1Mb deletion removes Wilms’ tumor 1 (WT1) but not PAX6 in a patient with isolated cryptorchidism C Seabra, S Quental, A Neto, F Carvalho, J Gonçalves, S Fernandes, ... Florence-Utah International Symposium: Genetics of male infertility, 19-20 …, 2013 | | 2013 |
| Rare structural variants in severe spermatogenic impairment CM Seabra Universidade de Aveiro, 2012 | | 2012 |
| Validation of Rare Structural Variants in Portuguese Azoospermic Patients C Seabra, F Carvalho, J Gonçalves, R Matthiesen, S Fernandes, N Ana, ... 15th Portugaliæ Genetica, 22-23 march 2012, 2012 | | 2012 |
