| Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) AJ Vallejo-Vaz, CAT Stevens, ARM Lyons, KI Dharmayat, T Freiberger, ... The Lancet 398 (10312), 1713-1725, 2021 | 178 | 2021 |
| Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum S Whalen, D Héron, T Gaillon, O Moldovan, M Rossi, F Devillard, ... Human mutation 33 (1), 64-72, 2012 | 127 | 2012 |
| Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1, 25 (OH) 2D serum levels are associated with PHEX … M Morey, L Castro-Feijóo, J Barreiro, P Cabanas, M Pombo, M Gil, ... BMC medical genetics 12 (1), 1-11, 2011 | 103 | 2011 |
| Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations GE Jones, P Ostergaard, AT Moore, FC Connell, D Williams, O Quarrell, ... European Journal of Human Genetics 22 (7), 881-887, 2014 | 80 | 2014 |
| Rare variants in 48 genes account for 42% of cases of epilepsy with or without neurodevelopmental delay in 246 paediatric patients A Fernández-Marmiesse, I Roca, F Díaz Flores, V Cantarín, ... Frontiers in neuroscience 13, 1135, 2019 | 43 | 2019 |
| Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders AM Bertoli-Avella, KK Kandaswamy, S Khan, N Ordonez-Herrera, ... Genetics in Medicine 23 (8), 1551-1568, 2021 | 36 | 2021 |
| Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes J Piard, B Aral, P Vabres, M Holder‐Espinasse, A Mégarbané, S Gauthier, ... Clinical genetics 87 (3), 244-251, 2015 | 32 | 2015 |
| A new case of HDR syndrome with severe female genital tract malformation: comment on" Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial … O Moldovan, R Carvalho, Z Jorge, A Medeira American journal of medical genetics. Part A 155 (9), 2329-2330, 2011 | 19 | 2011 |
| Mowat-Wilson Syndrome: Growth Charts I Ivanovski, O Djuric, S Broccoli, SG Caraffi, A Patrizia, MP Adam, K Avela, ... | 15 | 2020 |
| De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures B Royer-Bertrand, M Jequier Gygax, K Cisarova, JA Rosenfeld, ... Molecular Autism 12, 1-11, 2021 | 13 | 2021 |
| Caffey disease in neonatal period: the importance of the family! AR Prior, O Moldovan, A Azevedo, C Moniz BMJ Case Reports 2012, 2012 | 13 | 2012 |
| Macrodactyly in tuberous sclerosis complex: Case report and review of the literature M Soeiro e Sá, O Moldovan, AB Sousa American Journal of Medical Genetics Part A 170 (7), 1903-1907, 2016 | 9 | 2016 |
| Cardiac Anderson-Fabry disease: Lessons from a 25-year-follow up D Brito, G Miltenberger–Miltenyi, O Moldovan, C Navarro, HC Madeira Revista Portuguesa de Cardiologia 33 (4), 247. e1-247. e7, 2014 | 9 | 2014 |
| New syndrome associated with ATP8A2 gene mutations: Encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy Whole-exome sequencing role in the … S Quintas, O Moldovan, TP dos Santos, A Levy European Journal of Paediatric Neurology 21, e65, 2017 | 7 | 2017 |
| Inborn errors of metabolism in a tertiary pediatric intensive care unit P Lipari, Z Shchomak, L Boto, P Janeiro, O Moldovan, F Abecasis, ... Journal of Pediatric Intensive Care 11 (03), 183-192, 2020 | 4 | 2020 |
| Arrhythmogenic right ventricular cardiomyopathy presenting as myocarditis in young patients: a concealed relationship R João, A Rita, M Duarte, M Oana, C Diogo, A Rui Revista espanola de cardiologia (English ed.) 73 (5), 424-426, 2020 | 4 | 2020 |
| A cryptic microdeletion del (12)(p11. 21p11. 23) within an unbalanced translocation t (7; 12)(q21. 13; q23. 1) implicates new candidate loci for intellectual disability and … A Ben-Mahmoud, S Kishikawa, V Gupta, NT Leach, Y Shen, O Moldovan, ... Scientific reports 13 (1), 12984, 2023 | 3 | 2023 |
| Recommendations for genetic testing in cardiology: Review of major international guidelines A Sousa, O Moldovan, A Lebreiro, M Bourbon, N António, Q Rato, ... Revista Portuguesa de Cardiologia (English Edition) 39 (10), 597-610, 2020 | 3 | 2020 |
| Epileptic Encephalopathies of Childhood: The New Paradigm of Genetic Diagnosis R Martins, O Moldovan, AB Sousa, A Levy, S Quintas Acta Medica Portuguesa 33 (6), 415-424, 2020 | 3* | 2020 |
| Estudo de dislipidemias familiares monogénicas raras AC Alves, S Sequeira, O Moldovan, G Lobarinhas, H Mansilha, S Duarte, ... Boletim Epidemiológico Observações 5, 52-56, 2016 | 3 | 2016 |
