|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
|Frequency and Pattern of Heteroplasmy in the Complete Human Mitochondrial Genome|
A Ramos, C Santos, L Mateiu, M del Mar Gonzalez, L Alvarez, L Azevedo, ...
PloS one 8 (10), e74636, 2013
|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
|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
|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
|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, 2014
|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
|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
|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
|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
|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
|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
|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
|Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations|
M Ferreira, T Evangelista, LS Almeida, J Martins, MC Macario, E Martins, ...
Neuromuscular Disorders 21 (7), 483-488, 2011
|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
|Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2|
D Quelhas, R Quental, L Vilarinho, A Amorim, L Azevedo
Annals of Human Genetics 71 (3), 348-353, 2007
|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, 2016
|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
|Characterization of human NLZ1/ZNF703 identifies conserved domains essential for proper subcellular localization and transcriptional repression|
I Pereira‐Castro, ÂMS Costa, MJ Oliveira, I Barbosa, AS Rocha, ...
Journal of Cellular Biochemistry 114 (1), 120-133, 2013
|Essential genetic findings in neurodevelopmental disorders|
AR Cardoso, M Lopes-Marques, RM Silva, C Serrano, A Amorim, ...
Human genomics 13 (1), 31, 2019