Jorge Oliveira

发表

Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics

R. Pereira, Jorge Oliveira, M. Sousa, 2020, Journal of clinical medicine.

Clinical and Genetic Analysis of Children with Kartagener Syndrome

R. Pereira, Jorge Oliveira, M. Sousa, 2019, Cells.

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

J. Lupski, K. Devriendt, J. Vermeesch, 2019, Human mutation.

Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto–Shinawi syndrome

Jorge Oliveira, E. Rodrigues, R. Quental, 2022, American journal of medical genetics. Part A.

Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD)

J. D. den Dunnen, Y. Ariyurek, Jorge Oliveira, 2021, International journal of molecular sciences.

New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy.

Jorge Oliveira, Rosário Santos, Miguel Gonçalves-Rocha, 2011, Genetic testing and molecular biomarkers.

Development of NIPBL Locus‐Specific Database Using LOVD: From Novel Mutations to Further Genotype–Phenotype Correlations in Cornelia de Lange Syndrome

J. D. den Dunnen, Jorge Oliveira, Rosário Santos, 2010, Human mutation.

RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.

Jorge Oliveira, T. Coelho, A. Gonçalves, 2017, Journal of neuromuscular diseases.

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms

Jorge Oliveira, S. Duarte, T. Evangelista, 2011, Muscle & nerve.

Reviewing Large LAMA2 Deletions and Duplications in Congenital Muscular Dystrophy Patients.

Jorge Oliveira, M. Sousa, M. Vainzof, 2014, Journal of neuromuscular diseases.

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum

Jorge Oliveira, A. Gonçalves, Rosário Santos, 2020, PloS one.

The TREAT‐NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Domenica Taruscio, Emma Heslop, Jes Rahbek, 2013, Human mutation.

Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

J. Hernández-Rivas, Jorge Oliveira, J. González-Porras, 2019, Annals of medicine.

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America

N. Lévy, Jorge Oliveira, F. Leturcq, 2011, Neuromuscular Disorders.

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51

Jorge Oliveira, A. Fortuna, T. Evangelista, 2010, Journal of Human Genetics.

Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene

Jorge Oliveira, M. Sousa, T. Coelho, 2017, Genes.

Mutation analysis in patients with total sperm immotility

R. Pereira, Jorge Oliveira, M. Sousa, 2015, Journal of Assisted Reproduction and Genetics.

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy

Jorge Oliveira, T. Evangelista, J. P. Vieira, 2014, Journal of Human Genetics.

Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough.

R. Pereira, Jorge Oliveira, M. Sousa, 2019, Advances in medical sciences.