| The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting PD Stenson, M Mort, EV Ball, M Chapman, K Evans, L Azevedo, ... Human Genetics, 1-11, 2020 | 1003 | 2020 |
| An X-linked haplotype of Neandertal origin is present among all non-African populations V Yotova, JF Lefebvre, C Moreau, E Gbeha, K Hovhannesyan, ... Molecular Biology and Evolution 28 (7), 1957-1962, 2011 | 127 | 2011 |
| Gains, Losses and Changes of Function after Gene Duplication: Study of the Metallothionein Family A Moleirinho, J Carneiro, R Matthiesen, RM Silva, A Amorim, L Azevedo PloS one 6 (4), e18487, 2011 | 109 | 2011 |
| Frequency and pattern of heteroplasmy in the complete human mitochondrial genome A Ramos, C Santos, L Mateiu, MM Gonzalez, L Alvarez, L Azevedo, ... PloS one 8 (10), e74636, 2013 | 98 | 2013 |
| Essential genetic findings in neurodevelopmental disorders AR Cardoso, M Lopes-Marques, RM Silva, C Serrano, A Amorim, ... Human genomics 13, 1-7, 2019 | 91 | 2019 |
| NAMPT and NAPRT1: novel polymorphisms and distribution of variants between normal tissues and tumor samples S Duarte-Pereira, SS Silva, L Azevedo, L Castro, A Amorim, RM Silva Scientific reports 4 (1), 1-7, 2014 | 61 | 2014 |
| Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response L Azevedo, C Serrano, A Amorim, DN Cooper Human genomics 9 (1), 1-6, 2015 | 57 | 2015 |
| Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency C Nogueira, J Barros, MJ Sá, L Azevedo, R Taipa, A Torraco, ... Neurogenetics 14 (2), 153-160, 2013 | 55 | 2013 |
| The Yeast Saccharomyces cerevisiae as a Model for Understanding RAS Proteins and Their Role in Human Tumorigenesis G Cazzanelli, F Pereira, S Alves, R Francisco, L Azevedo, PD Carvalho, ... Cells 7 (2), 14, 2018 | 54 | 2018 |
| Epistatic interactions: how strong in disease and evolution? L Azevedo, G Suriano, B van Asch, RM Harding, A Amorim Trends in Genetics 22 (11), 581-585, 2006 | 53 | 2006 |
| Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10) T Almeida, I Alonso, S Martins, EM Ramos, L Azevedo, K Ohno, A Amorim, ... PloS one 4 (2), e4553, 2009 | 52 | 2009 |
| Discussion on common data analysis strategies used in MS‐based proteomics R Matthiesen, L Azevedo, A Amorim, AS Carvalho Proteomics 11 (4), 604-619, 2011 | 42 | 2011 |
| Novel L2HGDH mutations in 21 patients with L‐2‐hydroxyglutaric aciduria of Portuguese origin L Vilarinho, ML Cardoso, P Gaspar, C Barbot, L Azevedo, L Diogo, ... Human Mutation 26 (4), 395-396, 2005 | 42 | 2005 |
| Epistatic interactions modulate the evolution of mammalian mitochondrial respiratory complex components L Azevedo, J Carneiro, B Van Asch, A Moleirinho, F Pereira, A Amorim BMC genomics 10 (1), 266, 2009 | 41 | 2009 |
| Major influence of repetitive elements on disease-associated copy number variants (CNVs) AR Cardoso, M Oliveira, A Amorim, L Azevedo Human Genomics 10 (1), 30, 2016 | 32 | 2016 |
| Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene R Quental, L Azevedo, V Rubio, L Diogo, A Amorim Clinical genetics 75 (5), 457-464, 2009 | 31 | 2009 |
| Improving the in silico assessment of pathogenicity for compensated variants L Azevedo, M Mort, AC Costa, RM Silva, D Quelhas, A Amorim, ... European Journal of Human Genetics 25 (1), 2-7, 2017 | 30 | 2017 |
| Molecular Markers: An Overview of Data Published for Fungi over the Last Ten Years M Oliveira, L Azevedo Journal of Fungi 8 (8), 803, 2022 | 28 | 2022 |
| Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients F Ferreira, S Esteves, LS Almeida, A Gaspar, CD da Costa, P Janeiro, ... Gene 527 (1), 366-370, 2013 | 28 | 2013 |
| 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening H Fonseca, L Azevedo, C Serrano, C Sousa, A Marcão, L Vilarinho Gene 594 (2), 203-210, 2016 | 27 | 2016 |
Antonio AmorimIPATIMUP, i3s, Faculty of Sciences University of PortoVerified email at ipatimup.pt
