| 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 | 223 | 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 | 135 | 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 | 109 | 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 | 88 | 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 | 52 | 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 | 43 | 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 | 34 | 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 | 20 | 2011 |
| Mowat-Wilson Syndrome: Growth Charts I Ivanovski, O Djuric, S Broccoli, SG Caraffi, A Patrizia, MP Adam, K Avela, ... | 18 | 2020 |
| Caffey disease in neonatal period: the importance of the family! AR Prior, O Moldovan, A Azevedo, C Moniz BMJ Case Reports 2012, 2012 | 15 | 2012 |
| 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 | 14 | 2021 |
| 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 | 8 | 2017 |
| Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype AM Medeiros, AC Alves, B Miranda, JR Chora, M Bourbon, Q Rato, ... Journal of Lipid Research 65 (2), 2024 | 7 | 2024 |
| Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders R Kaiyrzhanov, A Rad, SJ Lin, A Bertoli-Avella, WW Kallemeijn, A Godwin, ... Brain 147 (4), 1436-1456, 2024 | 6 | 2024 |
| Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction A Amor-Salamanca, A Santana Rodríguez, H Rasoul, ... Circulation: Genomic and Precision Medicine, e004404, 2024 | 5 | 2024 |
| Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature P Marzin, S Rondeau, JL Alessandri, K Dieterich, C le Goff, C Mahaut, ... Journal of Medical Genetics 61 (2), 109-116, 2024 | 5 | 2024 |
| 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 | 5 | 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 | 4 | 2023 |
