| A known pathogenic variant in the essential mitochondrial translation gene RMND1 causes a Perrault‐like syndrome with renal defects. LAM Demain, D Antunes, J O'Sullivan, SS Bhaskhar, RT O'Keefe, ... Clinical genetics 94 (2), 2018 | 14 | 2018 |
| Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations M Duarte, J Afonso, A Moreira, D Antunes, C Ferreira, H Correia, ... Brain and Development 39 (6), 539-541, 2017 | 11 | 2017 |
| The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review F Lopes, F Torres, G Soares, CD Van Karnebeek, C Martins, D Antunes, ... Frontiers in genetics 10, 58, 2019 | 9 | 2019 |
| Dilated cardiomyopathy: a comprehensive approach to diagnosis and risk stratification A Ferreira, V Ferreira, MM Antunes, A Lousinha, T Pereira-da-Silva, ... Biomedicines 11 (3), 834, 2023 | 7 | 2023 |
| Genomic imbalances defining novel intellectual disability associated loci F Lopes, F Torres, G Soares, M Barbosa, J Silva, F Duque, M Rocha, J Sá, ... Orphanet journal of rare diseases 14, 1-13, 2019 | 6 | 2019 |
| Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE M Gromicho, AM Coutinho, AC Pronto-Laborinho, R Raposeiro, J Tavares, ... Journal of Neurology 267, 3578-3592, 2020 | 3 | 2020 |
| Not All Left Ventricular Hypertrophy Is Hypertrophic Cardiomyopathy: MYL2-Associated Double-Chambered Left Ventricle PG Brás, I Cardoso, JM Viegas, D Antunes, B Thomas, SA Rosa The Canadian journal of cardiology 39 (10), 1332-1334, 2023 | 1 | 2023 |
| Case report: Mutation in NPPA gene as a cause of fibrotic atrial myopathy P Silva Cunha, DO Antunes, S Laranjo, A Coutinho, J Abecasis, ... Frontiers in Cardiovascular Medicine 10, 1149717, 2023 | 1 | 2023 |
| Time to downgrade genetic testing? Review of pathogenic variants in cardiogenetic D Antunes, A Coutinho, Y Chiodo, B Meireles, S Perez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 151-151, 2024 | | 2024 |
| Clinical pathways in cancer screening of PTEN hamartoma tumor syndrome CA Soares, G Soares, AR Soares, M Soares, M Rodrigues, J Dupont, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 580-580, 2024 | | 2024 |
| Secondary findings: Experience of a clinical genetics unit in Portugal M Melo, JP Freixo, SL Ferreira, S Nunes, I Carvalho, R Goncalves, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 310-310, 2024 | | 2024 |
| Is this our CHAMP1on gene? A 13q34 microdeletion Case Report J Catanho, I Carvalho, D Antunes EUROPEAN JOURNAL OF HUMAN GENETICS 32, 476-476, 2024 | | 2024 |
| Homozygous Variant on CLASP2 Gene Associated to Intellectual Disability and Rhythm Disorder SL Ferreira, JP Freixo, PS Cunha, DO Antunes SciBase Cardiol 2 (1), 1006, 2024 | | 2024 |
| Sudden Cardiac Death in Biventricular Arrhythmogenic Cardiomyopathy: A New Undescribed Variant of the MYH6 Gene P Garcia Brás, I Cardoso, J Viegas, D Antunes, SA Rosa Cardiogenetics 13 (4), 145-153, 2023 | | 2023 |
| TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis JV Dias, AA Carvalho, JP Freixo, D Antunes, AA Martins, T Painho, ... Pediatric Neurology 147, 52-55, 2023 | | 2023 |
| KBG SYNDROME IN THE PORTUGUESE POPULATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF 41 PATIENTS MT Neves, P Dias, P Louro, C Rosas, S Fernandes, M Abreu, S Ferreira, ... MEDICINE 101 (30), 2022 | | 2022 |
| MANDIBULOFACIAL DYSOSTOSIS TYPE GUION-ALMEIDA: NATIONAL CASE SERIES WITH CLINICAL AND MOLECULAR CHARACTERIZATION M Melo, CA Soares, A Travessa, D Soares, M Leao, L Ramos, D Antunes MEDICINE 101 (30), 2022 | | 2022 |
| GENOTYPE, PHENOTYPE AND CLINICAL FOLLOW-UP OF A MULTICENTRIC COHORT OF PATIENTS WITH PTEN HAMARTOMA TUMOR SYNDROME CA Soares, G Soares, AR Soares, M Soares, M Rodrigues, J Dupont, ... MEDICINE 101 (30), 2022 | | 2022 |
| Zhu-Tokita-Takenouchi-Kim syndrome: the first case due to a 21q22. 1 microdeletion encompassing SON gene MS Melo, SL Ferreira, D Antunes, R Goncalves, T Kay EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 370-370, 2022 | | 2022 |
| eP210: A rare case of familial syndromic intellectual disability: First reported Portuguese patients S Pérez, S Sequeira, S Duarte, D Antunes Genetics in Medicine 24 (3), S131-S132, 2022 | | 2022 |
