| Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts. N Cartier, J LoPEZ, P Moullier, F RocCHICCIOLI, MO Rolland, P Jorge, ... Proceedings of the National Academy of Sciences 92 (5), 1674-1678, 1995 | 133 | 1995 |
| Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism C Rodrigues, P Jorge, JP Soares, I Santos, R Salomao, M Madeira, ... European Journal of Endocrinology 152 (2), 193-198, 2005 | 84 | 2005 |
| LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients J Oliveira, R Santos, I Soares‐Silva, P Jorge, E Vieira, ME Oliveira, ... Clinical genetics 74 (6), 502-512, 2008 | 82 | 2008 |
| The ABCA4 2588G> C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe A Maugeri, K Flothmann, N Hemmrich, S Ingvast, P Jorge, E Paloma, ... European Journal of Human Genetics 10 (3), 197-203, 2002 | 70 | 2002 |
| Intellectual disability genomics: current state, pitfalls and future challenges N Maia, MJ Nabais Sá, M Melo-Pires, APM de Brouwer, P Jorge BMC genomics 22, 1-17, 2021 | 65 | 2021 |
| X-linked adrenoleukodystrophy in patients with idiopathic Addison disease P Jorge, D Quelhas, P Oliveira, R Pinto, A Nogueira European journal of pediatrics 153, 594-597, 1994 | 41 | 1994 |
| Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events? N Maia, JR Loureiro, B Oliveira, I Marques, R Santos, P Jorge, S Martins Journal of human genetics 62 (2), 269-275, 2017 | 23 | 2017 |
| Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach I Marques, MJ Sá, G Soares, MC Mota, C Pinheiro, L Aguiar, M Amado, ... Molecular Genetics & Genomic Medicine 3 (3), 203-214, 2015 | 22 | 2015 |
| Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation DL Polla, AC Edmondson, S Duvet, ME March, AB Sousa, A Lehman, ... The American Journal of Human Genetics 108 (7), 1342-1349, 2021 | 17 | 2021 |
| Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants–A diagnostic challenge P Salgado, R Carvalho, AF Brandão, P Jorge, C Ramos, D Dias, I Alonso, ... Eneurologicalsci 14, 9-12, 2019 | 14 | 2019 |
| Development and validation of a multiplex-PCR assay for X-linked intellectual disability P Jorge, B Oliveira, I Marques, R Santos BMC medical genetics 14, 1-11, 2013 | 13 | 2013 |
| Novel Mutation (Y184C) in Exon 4 of the -Sarcoglycan Gene Identified in a Portuguese Patient M Rosario Dos Santos, P Jorge, EM Ribeiro, MM Pires, A Guimaraes HUMAN MUTATION 12, 214-214, 1998 | 11* | 1998 |
| A 26-year experience in chorionic villus sampling prenatal genetic diagnosis P Jorge, MM Mota-Freitas, R Santos, ML Silva, G Soares, AM Fortuna Journal of clinical medicine 3 (3), 838-848, 2014 | 10 | 2014 |
| FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes AI Seixas, J Vale, P Jorge, I Marques, R Santos, I Alonso, AM Fortuna, ... Behavioral and Brain Functions 7, 1-6, 2011 | 10 | 2011 |
| Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder N Maia, S Potelle, H Yildirim, S Duvet, SK Akula, C Schulz, E Wiame, ... The American Journal of Human Genetics 109 (2), 345-360, 2022 | 9 | 2022 |
| Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies P Jorge, E Garcia, A Gonçalves, I Marques, N Maia, B Rodrigues, ... BMC Medical Genetics 19, 1-5, 2018 | 9 | 2018 |
| Rare pathogenic copy number variation in the 16p11. 2 (BP4–BP5) region associated with neurodevelopmental and neuropsychiatric disorders: a review of the literature N Oliva-Teles, MC de Stefano, L Gallagher, S Rakic, P Jorge, G Cuturilo, ... International Journal of Environmental Research and Public Health 17 (24), 9253, 2020 | 6 | 2020 |
| Two novel pathogenic MID1 variants and genotype-phenotype correlation reanalysis in X-linked Opitz G/BBB syndrome N Maia, MJ Nabais Sá, N Tkachenko, G Soares, I Marques, B Rodrigues, ... Molecular Syndromology 9 (1), 45-51, 2017 | 6 | 2017 |
| Expanding the pre-and postnatal phenotype of WASHC5 and CCDC22-related Ritscher-Schinzel syndromes S Neri, N Maia, AM Fortuna, J Damasio, E Coale, M Willis, P Jorge, ... European Journal of Medical Genetics 65 (11), 104624, 2022 | 5 | 2022 |
| Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20 N Maia, G Soares, C Silva, I Marques, B Rodrigues, R Santos, ... Frontiers in Genetics 11, 1038, 2020 | 4 | 2020 |
