Jorge Oliveira (J Oliveira)

Scopus Author ID ResearcherID Ciência ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 19

Top Venues

International journal of molecular sciences

Clinical genetics

Movement disorders : official journal of the Movement Disorder Society

Movement disorders clinical practice

Universidade do Porto Instituto de Biologia Molecular e Celular

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Universidade do Porto Instituto de Biologia Molecular e Celular Jan 01 2019

Portugal

Lab Director & Senior Molecular Geneticist :: CGPP-IBMC - Centre for Predictive and Preventive Genetics

Centro Hospitalar Universitário do Porto - Dec 31 2018

Portugal

Clinical Laboratory Genetics Specialist :: Centro de Genética Médica

Instituto Nacional de Saúde Doutor Ricardo Jorge IP

Portugal

Clinical Laboratory Genetics Specialist :: Genética Humana (Centro de Genética Médica Dr. Jacinto Magalhães)

Instituto Genética Médica Dr. Jacinto de Magalhães

Portugal

Clinical Laboratory Genetics Specialist :: Unidade de Genética Molecular

University of Minho

Portugal

Invited assistant professor :: Biology

Education History

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar

Portugal

PHD

University of Minho

Portugal

MSC

Publications

Maria João Malaquias, Jorge Oliveira, Manuela Santos, Ana Filipa Brandão, Ana Sardoeira, Jorge Sequeiros, José Barros, Joana Damásio
Pseudodominance in Friedreich Ataxia-Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation. Movement disorders clinical practice 10 (4) (2023)
Rute Pereira, V Carvalho, C Dias, Telma Barbosa, Jorge Oliveira, Ângela Alves, Elsa Oliveira, Rosália Sá, Mário Sousa
Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility. Journal of assisted reproduction and genetics (2023)
Joana Damásio, Clara Barbot, Rui Felgueiras, Ana Filipa Brandão, José Barros, Jorge Oliveira, Leonor Correia Guedes
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Movement disorders : official journal of the Movement Disorder Society 38 (5) (2023)
Mariana Santos, João Massano, Alexandra Manuel Lopes, Ana Filipa Brandão, João Parente Freixo, Jorge Oliveira
Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30. Neurogenetics (2023)
Maria João Malaquias, Luis Braz, Cláudia Santos Silva, Joana Damásio, Andre Jorge, João M Lemos, Catarina Falcão Campos, Daniela Garcez, Miguel Oliveira Santos, Ana G Velon, André Caetano, Margarida Calejo, Preza Fernandes, Ângela Rego, Sandra Castro, Ana Paula Sousa, Marcio Neves Cardoso, Marco Fernandes, Miguel M Pinto, Ricardo Taipa, Ana M Lopes, Jorge Oliveira, Marina Magalhães, null null
Multisystemic RFC1 -Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome. Neurology. Clinical practice 13 (5) (2023)
Joana Fonte, Célia Machado, Jorge Oliveira, Marina Magalhães
Lower Facial Dystonia: An Unexpected Presentation Associated with Pathogenic RFC1 Repeat Expansions. Movement disorders clinical practice 10 (7) (2023)
Patricia Quelhas, Joana Jacinto, Carlos Thadeu Schmidt Cerski, Rui Caetano Oliveira, Jorge Oliveira, Elisa Carvalho, Jorge Luiz Dos Santos
Protocols of Investigation of Neonatal Cholestasis-A Critical Appraisal. Healthcare (Basel, Switzerland) 10 (10) (2022)
Catarina Monteiro, Ana Rita Gonçalves, Jorge Oliveira, Ramon Salvado, Jorge Tomaz, Sara Morais, Margarida Lima, Rosário Santos
Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles. International journal of molecular sciences 23 (17) (2022)
Maria J Nabais Sá, Kerry A Miller, Mary McQuaid, Nils Koelling, Andrew O M Wilkie, Hugo Wurtele, Arjan P M de Brouwer, Jorge Oliveira
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis. Journal of medical genetics (2021)
Ana Gonçalves, Ana Fortuna, Yavuz Ariyurek, Márcia E Oliveira, Goreti Nadais, Jorge Pinheiro, Johan T den Dunnen, Mário Sousa, Jorge Oliveira, Rosário Santos
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene ( DMD ). International journal of molecular sciences 23 (1) (2021)
André Jorge, Diana Melancia, Carlos Figueiredo, Orlando Galego, Jorge Oliveira, Ana I Martins, João M Lemos
Downbeat Nystagmus in Episodic Ataxia Type 1 Associated with a Novel KCNA1 Mutation. Movement disorders : official journal of the Movement Disorder Society (2021)
Sara Morais, Mónica Pereira, Catarina Lau, Ana Gonçalves, Catarina Monteiro, Marta Gonçalves, Jorge Oliveira, Lurdes Moreira, Eugénia Cruz, Rosário Santos, Margarida Lima
CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2. International journal of molecular sciences 22 (22) (2021)
Joana Damásio, Mariana Santos, Raquel Samões, Maria Araújo, Mafalda Macedo, Ana Sardoeira, Sara Cavaco, Joel Freitas, José Barros, Jorge Oliveira, Jorge Sequeiros
Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype. Clinical genetics 100 (6) (2021)
Rute Pereira, Jorge Oliveira, Mário Sousa
Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics. Journal of clinical medicine 9 (1) (2020)
Maria João Malaquias, Ricardo Cruz Martins, Jorge Oliveira, João Parente Freixo, Marina Magalhães
MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes. Clinical genetics 98 (5) (2020)
Rute Pereira, Telma Barbosa, Ângela Inácio, Elsa Oliveira, Rosário Santos, Jorge Oliveira, Mário Sousa
Clinical and Genetic Analysis of Children with Kartagener Syndrome. Cells 8 (8) (2019)
Jorge Oliveira, Angela Gruber, Márcio Cardoso, Ricardo Taipa, Isabel Fineza, Ana Gonçalves, Andreas Laner, Thomas L Winder, Jocelyn Schroeder, Julie Rath, Márcia E Oliveira, Emília Vieira, Ana Paula Sousa, José Pedro Vieira, Teresa Lourenço, Luciano Almendra, Luís Negrão, Manuela Santos, Manuel Melo-Pires, Teresa Coelho, Johan T den Dunnen, Rosário Santos, Mário Sousa
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes. Human mutation 39 (10) (2018)
Jorge Oliveira, M Martins, R Pinto Leite, M Sousa, R Santos
The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement. Clinical genetics 92 (4) (2017)
Ana Gonçalves, Jorge Oliveira, Teresa Coelho, Ricardo Taipa, Manuel Melo-Pires, Mário Sousa, Rosário Santos
Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene. Genes 8 (10) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Jorge Oliveira (J Oliveira)