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Jorge Manuel Santos Marques Oliveira, PhD in Biomedical Sciences from the Instituto de Ciências Biomédicas Abel Salazar at the University of Porto, and MSc in Molecular Genetics from the University of Minho. Vice-Director, Laboratory director and senior molecular geneticist at the Centre for Predictive and Preventive Genetics (CGPP), IBMC. Invited Assistant Professor at the Instituto de Ciências Biomédicas Abel Salazar (ICBAS). Integrated researcher at the Biology and Genetics of Reproduction / Molecular and Cellular Medicine group from the Unit for Multidisciplinary Research in Biomedicine (UMIB-ICBAS), University of Porto. The main scientific interests concern the genetic basis and mutational spectrum neurological diseases. Given the large amount of data generated from massively parallel sequencing technology daily, his current research targets the identification of genomic patterns in large datasets (Big Data) through bioinformatics approaches. These patterns could constitute important auxiliary genetic markers for diagnostics and gene discovery research. He has authored 69 articles in peer-reviewed international journals and two book chapters, organized 2 events, supervised 1 MSc dissertation, and co-supervised 2 MSc dissertations and 2 BSc course completion projects.
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Identification

Personal identification

Full name
Jorge Manuel Santos Marques Oliveira

Citation names

  • Oliveira, Jorge

Author identifiers

Ciência ID
0C11-7E7E-376F
ORCID iD
0000-0003-3924-6385
Google Scholar ID
https://scholar.google.com/citations?hl=en&user=ZvcyzhwAAAAJ
Researcher Id
O-4421-2019
Scopus Author Id
36954199700

Websites

Education
Degree Classification
2013/11 - 2019/07
Concluded
 PhD in Biomedical Sciences (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Identifying novel genetic causes for hereditary myopathies: from conventional approaches to next-generation sequencing" (THESIS/DISSERTATION)
2016/04 - 2016/04
Concluded
 Visiting PhD student at Leiden University Medical Center (Outros)
Leids Universitair Medisch Centrum, Netherlands
2015
Concluded
 Clinical Laboratory Geneticist (Título de especialista)
European Board of Medical Genetics, Austria
2011
Concluded
 Specialist in Genetics (Título de especialista)
Administração Central do Sistema de Saúde IP, Portugal
2009
Concluded
 Human Geneticist (Título de especialista)
Ordem dos Biólogos, Portugal
2000/10 - 2002/07
Concluded
 MSc in Molecular Genetics (Mestrado)
Universidade do Minho Escola de Ciências, Portugal
"Estudo dos mecanismos bioquímicos e moleculares envolvidos no transporte de monossacarídeos em Olea europaea" (THESIS/DISSERTATION)
1995 - 1999
Concluded
 Biology degree (Licenciatura)
Universidade de Aveiro, Portugal
Affiliation

Teaching in Higher Education

Category
Host institution 		Employer
2017 - 2018 Invited Adjunct Teacher (Polytechnic Teacher) Escola Superior de Saúde Norte da Cruz Vermelha Portuguesa, Portugal
2002/02/01 - 2002/09/30 Tutor (University Teacher) Universidade do Minho, Portugal
Universidade do Minho Departamento de Biologia, Portugal

Other Careers

Category
Host institution 		Employer
2013/05/01 - 2018/12/31 Assistente (Técnico Superior de Saúde - Genética) Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
2006 - 2013 Assistente (Técnico Superior de Saúde) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2003/02 - 2006 Assistente (Técnico Superior de Saúde) Instituto de Genética Médica Dr. Jacinto Magalhães, Portugal

Positions / Appointments

Category
Host institution 		Employer
2020/03/30 - Current Laboratory director Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, universidade do Porto, Portugal
Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, universidade do Porto, Portugal
2019/01/01 - Current Senior molecular geneticist Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, universidade do Porto, Portugal

Others

Category
Host institution 		Employer
2022/10 - Current Vice-Director Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, universidade do Porto, Portugal
2019 - 2023 Researcher in UnIGENe unit Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Projects

Grant

Designation Funders
2019/10 - 2021/12 GenomePT - Portuguese Roadmap of Research Infrastructures
POCI-01-0145-FEDER-022184
Researcher
Fundação para a Ciência e a Tecnologia
Concluded
2016 - 2021 Macrotrombocitopenia Familiar com expressão diminuída de Glicoproteína llbllla
15/
CHP 2016.167
Researcher
Centro Hospitalar Universitário do Porto EPE
Ongoing
2014/02 - 2018/12 Widening the genetic etiology of primary disorders of muscles using next-generation sequencing
336/13(196-DEFI/285-CES
Principal investigator
Centro Hospitalar Universitário do Porto EPE
Concluded

Contract

Designation Funders
2021/01/01 - Current Unit for Multidisciplinary Research In Biomedicine - UMIB
UIDB/00215/2020
UIDP/00215/2020
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2021/01/01 - 2025/12/31 Institute for Research and Innovation in Health
LA/P/0070/2020
10.54499/LA/P/0070/2020
Instituto de Astrofísica e Ciências do Espaço, Portugal

Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

Instituto Nacional de Engenharia Biomédica, Portugal

Universidade do Porto, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2019/01/01 - 2019/12/31 Multidisciplinary Unit for Biomedical Resaerch
UID/Multi/00215/2019
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal
Fundação para a Ciência e a Tecnologia
Concluded

Other

Designation Funders
2004 - 2006 Study of NIPBL gene in patients with Cornelia de Lange syndrome
NIPBL-IGM
Researcher
Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
Concluded
Outputs

Publications

Book chapter
  1. Oliveira, Jorge. Corresponding author: Oliveira, Jorge. "Testes genéticos - Molecular- Sequenciação de nova geração". In Neonatologia - Formação Avançada, edited by Alberto Caldas Afonso; CARVALHO, CARMEN; Elisa Proença, 75-80. Lisbon, Portugal: LIDEL, 2024.
    Published
  2. Oliveira, J.; Pereira, R.; Santos, R.; Sousa, M.. "Evaluating runs of homozygosity in exome sequencing data - Utility in disease inheritance model selection and variant filtering". 2018.
    10.1007/978-3-319-94806-5_15
Conference abstract
  1. Melo, Mafalda; Silva, Paulo; RIBEIRO, MARIANA; Valente, Susana; Alves, Filipe; Coutinho, Ana; Venâncio, Margarida; et al. Corresponding author: Melo, Mafalda. "Medically Actionable Secondary Findings From Whole Exome Sequencing (WES) Data in a Sample of 3,972 Individuals". Paper presented in 27th Annual Meeting SPGH, Lisbon, 2023.
    Published
Conference paper
  1. Oliveira, Jorge. "Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases". 2017.
    10.5220/0006248502100216
  2. Oliveira, Jorge; Negrão, Luís; Fineza, Isabel; Gonçalves, Ana Rita; Froufe, Hugo; Egas, Conceição; Sousa, Mário; Santos, Rosário. "Forma rara de distrofia muscular (ligada ao gene CHKB) identificada através da sequenciação completa do exoma". 2014.
  3. Lopes, Pedro; Mendonça, Rafael; Rocha, Hugo; Oliveira, Jorge; Vilarinho, Laura; Santos, Rosário; Oliveira, José; et al. "A Rare Disease Patient Manager". 2012.
    10.1007/978-3-642-28839-5_20
  4. dos Santos, Tiago; Moreno, Teresa; Conceição, Isabel; Oliveira, Jorge; Evangelista, Teresinha. "Lamina A/C- Um Gene Várias Doenças". 2012.
  5. Cancelinha, Candida; Cost, Carmen; Oliveira, Jorge; Fineza, Isabel. "Dystrophie musculaire congénitale de type 1A – une série pédiatrique". 2012.
  6. Pinto da Costa, Eurico; Oliveira, Jorge; Silva, João; Santos, Rosário. "Further contributions towards the molecular analysis of NIPBL and SMC1A genes in a cohort of patients with Cornelia de Lange Syndrome". 2012.
  7. Alves, Ivânia; Taipa, Ricardo; Monteiro, Cecília; Melo Pires, Manuel; Santos, Rosário; Gonçalves, Ana Rita; Oliveira, Jorge; Guimarães, António. "O papel da Neuropatologia no diagnóstico das distrofias musculares congénitas e sua relação com o estudo genético". 2012.
  8. Mendonça, R.; Lopes, P.; Rocha, H.; Oliveira, J.; Vilarinho, L.; Santos, R.; Oliveira, J.L.. "Gathering and managing genotype and phenotype information about rare diseases patients". 2012.
  9. Santos, Rosário; Vieira, Emília; Moutinho, Ariana; Oliveira, Jorge; Negrão, Luís; Bronze-da-Rocha, Elsa. "Anoctamin 5: A New Candidate Gene For Portuguese Patients With Adult Onset Limb-Girdle Muscular Dystrophy". 2011.
  10. Oliveira, Jorge; Rodrigues, Luisa; Maia, Nuno; Oliveira, Marcia E.; Santos, Rosário. "Atrofias Musculares Espinhais: do estudo genético ao registo de doentes". 2011.
  11. Vernengo, Luis; Oliveira, Jorge; Krahn, Martin; Vieira, Emília; Santos, Rosário; Carraso, Luisa; Negrão, Luis; et al. "Migration of an ancestral dysferlin splicing mutation from the Iberian peninsula to South America". 2011.
  12. Oliveira, Jorge; Oliveira, Márcia E.; Brekelmans, Roel; Melo-Pires, Manuel; Guimarães, António; den Dunnen, Johan; Santos, Manuela; Santos, Rosário. "Expanding the mutation spectrum of the MTM1 gene: the first multi-exonic duplication and establishment of the MTM1 locus-specific database". 2011.
  13. Oliveira, Jorge. "Doenças musculares metabólicas e do neurónio motor". 2011.
Conference poster
  1. "Lopes, Alexandra"; "Lopes, Fátima"; Brandão, Ana Filipa; Silva, Paulo; Alves, Filipe; "Lopes, Ana"; Bastos-Ferreira, Rita; et al. "Genetic heterogeneity in muscular dystrophies and congenital myopathies: data from multigene WES-based genetic studies". Paper presented in European Human Genetics Conference 2023, 2023.
  2. "Lopes, Alexandra"; "Lopes, Ana"; Silva, Paulo; "Morais, Sara"; Brandão, Ana Filipa; "Lopes, Fátima"; Bastos-Ferreira, Rita; et al. "KMT2B variants in a group of patient within pediatric age: two novel variants and two cases with atypical presentation". Paper presented in 17º Congresso da Sociedade Portuguesa de Neuropediatria, 2023.
  3. Silva, Paulo; Alves, Filipe; "Lopes, Fátima"; "Lopes, Alexandra"; "Morais, Sara"; "Lopes, Ana"; Brandão, Ana Filipa; et al. "Bioinformatics pitfalls, challenges and opportunities: accumulated experience of over 8,000 exomes at an accredited clinical genetics laboratory". Paper presented in European Human Genetics Conference 2022, 2022.
Journal article
  1. João Moura; Jorge Oliveira; Mariana Santos; Sara Costa; Lénia Silva; Carolina Lemos; José Barros; Jorge Sequeiros; Joana Damásio. "Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms". The Cerebellum (2024): http://dx.doi.org/10.1007/s12311-024-01723-9.
    10.1007/s12311-024-01723-9
  2. Joana Fonte; Gonçalo Videira; Rui Chorão; Joel Freitas; Inês Carrilho; João Parente Freixo; Jorge Oliveira; João Chaves. "Familial occipital lobe epilepsy associated with GABAA receptor variants". Seizure: European Journal of Epilepsy (2023): https://doi.org/10.1016/j.seizure.2023.10.003.
    10.1016/j.seizure.2023.10.003
  3. Joana Fonte; Célia Machado; Jorge Oliveira; Marina Magalhães. "Lower Facial Dystonia: An Unexpected Presentation Associated with Pathogenic RFC1 Repeat Expansions". Movement Disorders Clinical Practice (2023): https://doi.org/10.1002/mdc3.13730.
    10.1002/mdc3.13730
  4. 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): https://doi.org/10.1007/s10048-023-00720-0.
    10.1007/s10048-023-00720-0
  5. Joana Damásio; Clara Barbot; Rui Felgueiras; Ana Filipa Brandão; José Barros; Jorge Oliveira; Jorge Sequeiros. "Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST". Movement Disorders (2023): https://doi.org/10.1002/mds.29380.
    10.1002/mds.29380
  6. 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 (2023): https://doi.org/10.1002/mdc3.13694.
    10.1002/mdc3.13694
  7. Cunha, P.; Petit, E.; Coutelier, M.; Coarelli, G.; Mariotti, C.; Faber, J.; Van Gaalen, J.; et al. "Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias". American Journal of Human Genetics 110 7 (2023): 1098-1109. http://www.scopus.com/inward/record.url?eid=2-s2.0-85163408235&partnerID=MN8TOARS.
    10.1016/j.ajhg.2023.05.009
  8. Beijer, D.; Fogel, B.L.; Beltran, S.; Danzi, M.C.; Németh, A.H.; Züchner, S.; Synofzik, M.; et al. "Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative". Cerebellum (2023): http://www.scopus.com/inward/record.url?eid=2-s2.0-85149219640&partnerID=MN8TOARS.
    10.1007/s12311-023-01537-1
  9. Godinho, F.; Guerreiro, C.; Parente Freixo, J.; Oliveira, J.; Lourenço Rosa, J.. "Acute onset of adult Alexander disease and the concept of GFAP toxicity". Journal of the Neurological Sciences 453 (2023): http://www.scopus.com/inward/record.url?eid=2-s2.0-85170580432&partnerID=MN8TOARS.
    10.1016/j.jns.2023.120800
  10. Malaquias, M.J.; Igreja, L.; Nogueira, C.; Pereira, C.; Vilarinho, L.; Quelhas, D.; Freixo, J.P.; Oliveira, J.; Magalhães, M.. "Diagnosis across a cohort of “atypical” atypical and complex parkinsonism". Parkinsonism and Related Disorders 111 (2023): http://www.scopus.com/inward/record.url?eid=2-s2.0-85153209389&partnerID=MN8TOARS.
    10.1016/j.parkreldis.2023.105408
  11. Patricia Quelhas; Joana Jacinto; Carlos Cerski; Rui Oliveira; Jorge Oliveira; Elisa Carvalho; Jorge dos Santos. "Protocols of Investigation of Neonatal Cholestasis—A Critical Appraisal". Healthcare (2022): https://doi.org/10.3390/healthcare10102012.
    10.3390/healthcare10102012
  12. Catarina Monteiro; Ana 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 (2022): https://doi.org/10.3390/ijms23179621.
    10.3390/ijms23179621
  13. Quental, R.; Gonçalves, D.; Rodrigues, E.; Serrano Gonçalves, E.; Oliveira, J.; Parente Freixo, J.; Leão, M.. "Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto–Shinawi syndrome". American Journal of Medical Genetics, Part A (2022): http://www.scopus.com/inward/record.url?eid=2-s2.0-85122693429&partnerID=MN8TOARS.
    10.1002/ajmg.a.62636
  14. Moura, J.; Sardoeira, A.; Oliveira, J.; Mendes, A.; Barros, J.; Sequeiros, J.; Barbot, C.; Damasio, J.. "Childhood-onset writer's cramp in hereditary spastic paraplegia type 15". Canadian Journal of Neurological Sciences (2022): http://www.scopus.com/inward/record.url?eid=2-s2.0-85130626059&partnerID=MN8TOARS.
    10.1017/cjn.2022.59
  15. Malaquias, M.J.; Pinto, E.; Oliveira, J.; Freixo, J.P.; Caseiro, C.; Magalhães, M.. "Alpha-Mannosidosis: A Novel Cause of Bilateral Thalami and Dentate Nuclei Hyperintensity". Canadian Journal of Neurological Sciences 49 5 (2022): 704-705. http://www.scopus.com/inward/record.url?eid=2-s2.0-85137746079&partnerID=MN8TOARS.
    10.1017/cjn.2021.208
  16. Ana Gonçalves; Ana Fortuna; Yavuz Ariyurek; Márcia E. Oliveira; Goreti Nadais; Jorge Pinheiro; Johan T. den Dunnen; et al. "Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD)". International Journal of Molecular Sciences (2021): https://doi.org/10.3390/ijms23010059.
    10.3390/ijms23010059
  17. Joana Damásio; Mariana Santos; Raquel Samões; Maria Araújo; Mafalda Macedo; Ana Sardoeira; Sara Cavaco; et al. "Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype". Clinical Genetics (2021): https://doi.org/10.1111/cge.14055.
    10.1111/cge.14055
  18. Sara Morais; Mónica Pereira; Catarina Lau; Ana Gonçalves; Catarina Monteiro; Marta Gonçalves; Jorge Oliveira; et al. "CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2". International Journal of Molecular Sciences (2021): https://doi.org/10.3390/ijms222212423.
    10.3390/ijms222212423
  19. André Jorge; Diana Melancia; Carlos Figueiredo; Orlando Galego; Jorge Oliveira; Ana I. Martins; João Lemos. "Downbeat Nystagmus in Episodic Ataxia Type 1 Associated with a Novel KCNA1 Mutation". Movement Disorders (2021): https://doi.org/10.1002/mds.28843.
    10.1002/mds.28843
  20. 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): https://doi.org/10.1136/jmedgenet-2020-107572.
    10.1136/jmedgenet-2020-107572
  21. Maria João Malaquias; Diogo Costa; Eduarda Pinto; Gonçalo Videira; Jorge Oliveira; João Parente Freixo; Laura Vilarinho; Marina Magalhães. "Parkinsonism and iron deposition in two adult patients with L-2-hydroxiglutaric aciduria". Parkinsonism & Related Disorders 86 (2021): 45-47. https://doi.org/10.1016/j.parkreldis.2021.03.025.
    10.1016/j.parkreldis.2021.03.025
  22. Dias Bastos, P.A.; Mendonça, M.; Lampreia, T.; Magriço, M.; Oliveira, J.; Barbosa, R.. "PHARC Syndrome, a Rare Genetic Disorder—Case Report". Movement Disorders Clinical Practice 8 6 (2021): 977-979. http://www.scopus.com/inward/record.url?eid=2-s2.0-85109669307&partnerID=MN8TOARS.
    10.1002/mdc3.13266
  23. Oliveira, Jorge. "aIIbß3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum". PLOS ONE 15 12 (2020): e0235136-e0235136. http://dx.doi.org/10.1371/journal.pone.0235136.
    10.1371/journal.pone.0235136
  24. Oliveira, Jorge. "Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1". Neurological Sciences (2020): http://dx.doi.org/10.1007/s10072-020-04895-4.
    10.1007/s10072-020-04895-4
  25. 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 (2020): https://doi.org/10.1111/cge.13836.
    10.1111/cge.13836
  26. Oliveira, Jorge. "Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough". Advances in Medical Sciences (2020): http://dx.doi.org/10.1016/j.advms.2019.10.003.
    10.1016/j.advms.2019.10.003
  27. 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): 132-132. https://doi.org/10.3390/jcm9010132.
    10.3390/jcm9010132
  28. Malaquias, M.J.; Pinto, C.M.; Sardoeira, A.; Oliveira, J.; Freixo, J.P.; Silva, A.A.; Abreu, P.; et al. "Correction to: Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1 (Neurological Sciences, (2020), 10.1007/s10072-020-04895-4)". Neurological Sciences (2020): http://www.scopus.com/inward/record.url?eid=2-s2.0-85096305525&partnerID=MN8TOARS.
    10.1007/s10072-020-04926-0
  29. Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; et al. "Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity". Human Mutation 41 2 (2019): 449-464. http://dx.doi.org/10.1002/humu.23936.
    10.1002/humu.23936
  30. Rute Pereira; Telma Barbosa; Luís Gales; Elsa Oliveira; Rosário Santos; Jorge Oliveira; Mário Sousa. "Clinical and Genetic Analysis of Children with Kartagener Syndrome". Cells 8 8 (2019): 900-900. https://doi.org/10.3390/cells8080900.
    10.3390/cells8080900
  31. Oliveira, Jorge. "Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing". Annals of Medicine (2019): http://dx.doi.org/10.1080/07853890.2019.1587498.
    10.1080/07853890.2019.1587498
  32. Pereira, R.; Oliveira, M.E.; Santos, R.; Oliveira, E.; Barbosa, T.; Santos, T.; Gonçalves, P.; et al. "Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction". Journal of Assisted Reproduction and Genetics (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85068863801&partnerID=MN8TOARS.
    10.1007/s10815-019-01509-7
  33. Jéssica Costa; Rute Pereira; Jorge Oliveira; Ângela Alves; Ângela Marques-Magalhães; Amaro Frutuoso; Carla Leal; et al. "Structural and molecular analysis of the cancer prostate cell line PC3: Oocyte zona pellucida glycoproteins". Tissue and Cell 55 (2018): 91-106. https://doi.org/10.1016/j.tice.2018.11.001.
    10.1016/j.tice.2018.11.001
  34. Jorge Oliveira; Angela Gruber; Márcio Cardoso; Ricardo Taipa; Isabel Fineza; Ana Gonçalves; Andreas Laner; et al. "LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-a2 variome and its related phenotypes". Human Mutation (2018): https://doi.org/10.1002/humu.23599.
    10.1002/humu.23599
  35. Maria Bastida, Jose; Morais, Sara; Palma-Barqueros, Veronica; Benito, Rocio; Bermejo, Nuria; Karkucak, Mutlu; Trapero-Marugan, Maria; et al. "Ten New Cases of Hermansky-Pudlak Syndrome in the Iberian Peninsula: Identification of Novel Genetic Variants in HPS3, HPS4, HPS6 and DTNBP1 Associated with Significant Clinical Complications". Blood (2018): https://publons.com/publon/19651393/.
    10.1182/BLOOD-2018-99-112968
  36. J. 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 (2017): https://doi.org/10.1111/cge.12997.
    10.1111/cge.12997
  37. Oliveira, Jorge. "Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene". Genes (2017): http://www.mdpi.com/2073-4425/8/10/253.
    10.3390/genes8100253
  38. Raquel Samões; Jorge Oliveira; Ricardo Taipa; Teresa Coelho; Márcio Cardoso; Ana Gonçalves; Rosário Santos; et al. "RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre". Journal of Neuromuscular Diseases 4 1 (2017): 67-76. https://doi.org/10.3233%2Fjnd-160199.
    10.3233/jnd-160199
  39. J. Oliveira; M. Cardoso; R. Taipa; A. Gonçalves; M. Oliveira; M. Melo-Pires; M. Santos; T. Coelho; R. Santos. "The expanding phenotype of LAMA2-related muscular dystrophies: Four additional cases diagnosed during adulthood". Neuromuscular Disorders 26 (2016): S190-S190. https://doi.org/10.1016%2Fj.nmd.2016.06.375.
    10.1016/j.nmd.2016.06.375
  40. Jorge Oliveira; Ana Gonçalves; Ricardo Taipa; Manuel Melo-Pires; Márcia E Oliveira; José Luís Costa; José Carlos Machado; et al. "New massive parallel sequencing approach improves the genetic characterization of congenital myopathies". J Hum Genet 61 6 (2016): 497-505. http://dx.doi.org/10.1038/jhg.2016.2.
    10.1038/jhg.2016.2
  41. Seabra, Patricia; Lau, Catarina; Freitas, Ines; Oliveira, Jorge; Santos, Rosario; Cruz, Eugenia; Coutinho, Maria; et al. "Phenotypic and genotypic characterization of MYH9 related macrothrombocytopenias in four Portuguese families". Haemophilia (2016): https://publons.com/publon/19651392/.
  42. Oliveira, Jorge; Negrao, Luis; Fineza, Isabel; Taipa, Ricardo; Melo-Pires, Manuel; Goncalves, Ana Rita; Vieira, Emilia; et al. "Beta choline kinase deficiency: a rare cause of muscular dystrophy, cardiomyopathy and intellectual disability". Medicine (2016): https://publons.com/publon/18927916/.
  43. Pereira, Rute; Oliveira, Jorge; Ferraz, Luis; Barros, Alberto; Santos, Rosario; Sousa, Mario; Pereira, R.; et al. "Mutation analysis in patients with total sperm immotility and dysplasia of the fibrous sheath". Medicine 32 6 (2016): 893-902. https://publons.com/publon/19651391/.
    10.1007/s10815-015-0474-6
  44. Oliveira, Jorge; Egas, Conceicai; Machado, Jose C.; Sousa, Mario; Santos, Rosario. "The genetics of hereditary myopathies revisited by massive parallel sequencing". Medicine (2016): https://publons.com/publon/4831926/.
  45. Oliveira, J.; Negrão, L.; Fineza, I.; Taipa, R.; Melo-Pires, M.; Fortuna, A.M.; Gonçalves, A.R.; et al. "New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing". Journal of Human Genetics 60 6 (2015): 305-312. http://www.scopus.com/inward/record.url?eid=2-s2.0-84932614394&partnerID=MN8TOARS.
    10.1038/jhg.2015.20
  46. Rocha, J.; Taipa, R.; Melo Pires, M.; Oliveira, J.; Santos, R.; Santos, M.. "Ryanodine myopathies without central cores - Clinical, histopathologic, and genetic description of three cases". Pediatric Neurology 51 2 (2014): 275-278. http://www.scopus.com/inward/record.url?eid=2-s2.0-84904917108&partnerID=MN8TOARS.
    10.1016/j.pediatrneurol.2014.04.024
  47. Oliveira, J.; Gonçalves, A.; Oliveira, M.E.; Fineza, I.; Pavanello, R.C.M.; Vainzof, M.; Bronze-da-Rocha, E.; Santos, R.; Sousa, M.. "Reviewing large LAMA2 deletions and duplications in congenital muscular dystrophy patients". Journal of Neuromuscular Diseases 1 2 (2014): 169-179. http://www.scopus.com/inward/record.url?eid=2-s2.0-84932625659&partnerID=MN8TOARS.
    10.3233/JND-140031
  48. Marques, J.; Duarte, S.T.; Costa, S.; Jacinto, S.; Oliveira, J.; Oliveira, M.E.; Santos, R.; et al. "Atypical phenotype in two patients with LAMA2 mutations". Neuromuscular Disorders 24 5 (2014): 419-424. http://www.scopus.com/inward/record.url?eid=2-s2.0-84898870163&partnerID=MN8TOARS.
    10.1016/j.nmd.2014.01.004
  49. Santos, R.; Gonçalves, A.; Oliveira, J.; Vieira, E.; Vieira, J.P.; Evangelista, T.; Moreno, T.; et al. "New variants, challenges and pitfalls in DMD genotyping: Implications in diagnosis, prognosis and therapy". Journal of Human Genetics 59 8 (2014): 454-464. http://www.scopus.com/inward/record.url?eid=2-s2.0-84906681819&partnerID=MN8TOARS.
    10.1038/jhg.2014.54
  50. Gaspar, P.; Lopes, P.; Oliveira, J.; Santos, R.; Dalgleish, R.; Oliveira, J.L.. "Variobox: Automatic detection and annotation of human genetic variants". Human Mutation 35 2 (2014): 202-207. http://www.scopus.com/inward/record.url?eid=2-s2.0-84891943923&partnerID=MN8TOARS.
    10.1002/humu.22474
  51. Oliveira, Jorge; Oliveira, Rosário; Santos, Márcia. "Base de dados internacional de variantes genéticas do gene MTM1: contributos para o perfil epidemiológico da miopatia miotubular". (2013): http://hdl.handle.net/10400.18/1473.
  52. Bladen, C.L.; Rafferty, K.; Straub, V.; Monges, S.; Moresco, A.; Dawkins, H.; Roy, A.; et al. "The TREAT-NMD duchenne muscular dystrophy registries: Conception, design, and utilization by industry and academia". Human Mutation 34 11 (2013): 1449-1457. http://www.scopus.com/inward/record.url?eid=2-s2.0-84885419981&partnerID=MN8TOARS.
    10.1002/humu.22390
  53. Costa, C.; Oliveira, J.; Gonçalves, A.; Santos, R.; Bronze-da-Rocha, E.; Rebelo, O.; Pais, R.P.; Fineza, I.. "A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene". Neuromuscular Disorders 23 7 (2013): 557-561. http://www.scopus.com/inward/record.url?eid=2-s2.0-84878975350&partnerID=MN8TOARS.
    10.1016/j.nmd.2013.03.005
  54. Oliveira, Jorge; Oliveira, Márcia E.; Kress, Wolfram; Taipa, Ricardo; Melo Pires, Manuel; Hilbert, Pascale; Baxter, Peter; et al. "Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database". (2012): http://hdl.handle.net/10400.18/1048.
    doi:10.1038/ejhg.2012.201
  55. Barbosa, M.; Lopes, A.; Mota, C.; Martins, E.; Oliveira, J.; Alves, S.; de Bonis, P.; et al. "Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients". Clinical Genetics 81 1 (2012): 47-55. http://www.scopus.com/inward/record.url?eid=2-s2.0-83355175502&partnerID=MN8TOARS.
    10.1111/j.1399-0004.2011.01638.x
  56. J. Oliveira; M.E. Oliveira; R. Brekelmans; M. Melo Pires; A. Guimarães; J.T. den Dunnen; M. Santos; M.R. dos Santos. "P3.35. Expanding the mutation spectrum of the MTM1 gene: The first multi-exonic duplication and establishment of a locus-specific database". Neuromuscular Disorders 21 9-10 (2011): 692-692. https://doi.org/10.1016%2Fj.nmd.2011.06.929.
    10.1016/j.nmd.2011.06.929
  57. Duarte, Sofia; Oliveira, Jorge; Santos, Rosário; Pereira, Pedro; Barroso, Cândida; Conceição, Isabel; Evangelista, Teresinha; et al. "Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms". Muscle and Nerve 44 1 (2011): 102-108. http://hdl.handle.net/10400.18/710.
    doi: 10.1002/mus.22009
  58. Gonçalves-Rocha, M.; Oliveira, J.; Rodrigues, L.; Santos, R.. "New approaches in molecular diagnosis and population carrier screening for spinal muscular atrophy". Genetic Testing and Molecular Biomarkers 15 5 (2011): 319-326. http://www.scopus.com/inward/record.url?eid=2-s2.0-79956124861&partnerID=MN8TOARS.
    10.1089/gtmb.2010.0164
  59. Vernengo, L.; Oliveira, J.; Krahn, M.; Vieira, E.; Santos, R.; Carrasco, L.; Negrão, L.; et al. "Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America". Neuromuscular Disorders 21 5 (2011): 328-337. http://www.scopus.com/inward/record.url?eid=2-s2.0-79955480653&partnerID=MN8TOARS.
    10.1016/j.nmd.2011.02.003
  60. Santos, Rosário; Oliveira, Jorge; Vieira, Emília; Coelho, Teresa; Carneiro, António Leite; Evangelista, Teresinha; Dias, Cristina; et al. "Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51". Journal of Human Genetics 55 8 (2010): 546-549. http://hdl.handle.net/10400.18/173.
    doi:10.1038/jhg.2010.60
  61. Oliveira, J.; Dias, C.; Redeker, E.; Costa, E.; Silva, J.; Reis Lima, M.; Den Dunnen, J.T.; et al. "Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype-Phenotype Correlations in Cornelia de Lange Syndrome". Human Mutation 31 11 (2010): 1216-1222. http://www.scopus.com/inward/record.url?eid=2-s2.0-78049443024&partnerID=MN8TOARS.
    10.1002/humu.21352
  62. Oliveira, J.; Santos, R.; Soares-Silva, I.; Jorge, P.; Vieira, E.; Oliveira, M.E.; Moreira, A.; et al. "LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients". Clinical Genetics 74 6 (2008): 502-512. http://www.scopus.com/inward/record.url?eid=2-s2.0-56749104483&partnerID=MN8TOARS.
    10.1111/j.1399-0004.2008.01068.x
  63. Oliveira, J.; Soares-Silva, I.; Fokkema, I.; Gonçalves, A.; Cabral, A.; Diogo, L.; Galán, L.; et al. "Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy". Journal of Human Genetics 53 6 (2008): 565-572. http://www.scopus.com/inward/record.url?eid=2-s2.0-44449085738&partnerID=MN8TOARS.
    10.1007/s10038-008-0263-5
  64. J. Oliveira; I. Soares-Silva; A. Gonçalves; I. Fokkema; A. Cabral; L. Diogo; L. Galán; et al. "C.P.3.13 Silent exonic substitution in POMGnT1 promotes exon skipping in a CMD patient". Neuromuscular Disorders 17 9-10 (2007): 873-873. https://doi.org/10.1016%2Fj.nmd.2007.06.373.
    10.1016/j.nmd.2007.06.373
  65. J. Oliveira; I. Soares-Silva; P. Jorge; E. Vieira; M. Oliveira; R. Santos. "C.P.2.13 Widening the LAMA2 mutation spectrum in MDC1A patients: New mutations including gross deletions". Neuromuscular Disorders 17 9-10 (2007): 847-847. https://doi.org/10.1016%2Fj.nmd.2007.06.289.
    10.1016/j.nmd.2007.06.289
  66. R. Santos; J. Oliveira; E. Vieira; T. Coelho; A. Carneiro Leite; T. Evangelista; A. Fortuna; et al. "G.P.4.02 Founder effect of a new DYSF exon 48-skipping mutation detected in seven Portuguese dysferlinopathy patients". Neuromuscular Disorders 17 9-10 (2007): 788-788. https://doi.org/10.1016%2Fj.nmd.2007.06.094.
    10.1016/j.nmd.2007.06.094
  67. Costa, E.; Duque, F.; Oliveira, J.; Garcia, P.; Gonçalves, I.; Diogo, L.; Santos, R.. "Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome". Blood Cells, Molecules, and Diseases 39 1 (2007): 96-101. http://www.scopus.com/inward/record.url?eid=2-s2.0-34248515700&partnerID=MN8TOARS.
    10.1016/j.bcmd.2007.02.002
  68. Oliveira, J.; Tavares, R.M.; Geroó, H.. "Utilization and transport of glucose in Olea Europaea cell suspensions". Plant and Cell Physiology 43 12 (2002): 1510-1517. http://www.scopus.com/inward/record.url?eid=2-s2.0-0036954069&partnerID=MN8TOARS.
    10.1093/pcp/pcf179
Thesis / Dissertation
  1. Jorge Manuel dos Santos Marques de Oliveira. "Identifying novel genetic causes for hereditary myopathies: from conventional approaches to next-generation sequencing". PhD, 2019. https://hdl.handle.net/10216/121205.

Other

Other output
  1. Characterization of a DRC1 null variant associated to primary ciliary dyskinesia and female infertility. Journal of Assisted Reproduction and Genetics. 2022. Pereira, R.R.; Carvalho, V.; Dias, C.; Barbosa, T.; Oliveira, J.; Alves, Â.; Oliveira, E.; et al. http://www.scopus.com/inward/record.url?eid=2-s2.0-85167381114&partnerID=MN8TOARS.
    10.21203/rs.3.rs-1971584/v1
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2020/11/19 Genetic and clinical report of ten additional Portuguese patients with PNKP-related ataxia (AOA4) National congress of the Portuguese Society of Neurology 2020
Portuguese Society of Neurology (Coimbra, Portugal)
2020/11/10 PNKP (polynucleotide kinase 3'-phosphatase gene)-related ataxia: report of 10 additional Portuguese patients with AOA4 14th Congress of Portuguese Neuropediatric Society
Portuguese Society of Neuropediatrics (Porto, Portugal)
2019/09/12 Reporting and databases for sequencing results Basics in Human Genetics Diagnostics – A course for CLGs in Education
Cytogenetics and Genomics Laboratory, University of Coimbra (Figueira da Foz, Portugal)
2019/03/29 Molecular diagnostics techniques and interpretation of reports 7th Congress of the Portuguese Society for the study of neuromuscular diseases (SPEDNM)
Portuguese Society for the study of neuromuscular diseases (SPEDNM) (Tomar, Portugal)
2019/02/09 Genetics of neuromuscular diseases 18th Post-graduate course in neuropediatrics - Genetics aplications in neuropediatrics
Portuguese Society of Neuropediatrics (Coimbra, Portugal)
2018/11/15 Translating novel comprehensive genetic approaches in neurology: a few practical examples National congress of neurology 2018
Portuguese Society of Neurology (Porto, Portugal)
2018/04/14 The genetics of dystrophinopathies Spring meeting of the Portuguese Society for the study of neuromuscular diseases (SPEDNM)
Portuguese Society for the study of neuromuscular diseases (SPEDNM) (Coimbra, Portugal)
2016/11/16 A new neuromuscular disorder caused by defects in the activating signal cointegrator 1 complex: the second case with a loss-of-function variant in ASCC1 20th meeting of the Portuguese Society of Human Genetics
Portuguese Society of Human Genetics (Coimbra, Portugal)
2016/10/27 Next-generation sequencing in hereditary myopathies: from research to diagnosis (and back) Next-generation sequencing in a diagnostic setting
3Gb-TEST (Lisboa, Portugal)
2016/10/21 A novel neuromuscular disease due to defects in the activating signal cointegrator 1 complex: second case with a loss-of-function variant in the ASCC1 locus 6th Congress of the Portuguese Society for the study of neuromuscular diseases (SPEDNM)
Portuguese Society for the study of neuromuscular diseases (SPEDNM) (Coimbra, Portugal)
2016/01/16 Genetic study - conventional approaches and next-generation sequencing (NGS) 12º Curso de Formação em Neuropediatria - Exames Complementares em Neuropediatria
(Portugal)
2015/11/05 Genetic Variant Databases: their present and future roles in Human Genetics 19th meeting of the Portuguese Society of Human Genetics
Portuguese Society of Human Genetics (Porto, Portugal)
2015/09/24 The genetics of hereditary myopathies revisited by massive parallel sequencing UMIB SUMMIT 2015
Unit for Multidisciplinary Research in Biomedicine (Porto, Portugal)
2015/04/18 Molecular genetics’ research - new approaches to study hereditary myopathies
Sociedade Portuguesa de Estudos de Doenças Neuromusculares (SPEDNM) (Portugal)
2014/11/20 Improving the genetic diagnosis of congenital myopathies by targeted next-generation sequencing 18a Reunião da Sociedade Portuguesa de Genética Humana
(Lisboa, Portugal)
2014/03/28 Discovering “X” in the myopathic equation XLIII Conferências de Genética Doutor Jacinto Magalhães
Centro de Genética Dr. Jacinto Magalhães (Porto, Portugal)
2013/04/14 Progressive muscular dystrophies: genetic mutations IV Congresso Anual de Saúde Escola Superior de Saúde
Escola Superior de Saúde,Universidade de Aveiro (Aveiro, Portugal)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2022/12 - 2023/11 Runs of homozygosity analysis in 12,000 exomes: bioinformatic approaches for diagnostic purposes and population analysis
Supervisor of Susana Mano Valente
 Clinical Bioinformatics (Master)
Universidade de Aveiro Departamento de Ciências Médicas, Portugal
2014 - 2014 Mutation analysis of genes involved in sperm motility: A study on patients with total sperm immotility
Co-supervisor
 Biologia Celular e Molecular (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2012 - 2012 Further contributions towards the molecular analysis of NIPBL and SMC1A genes in a cohort of patients with Cornelia de Lange Syndrome
Co-supervisor of Eurico Costa
 Biologia (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2005 - 2005 Screening variants in NIPBL gene, related to Cornelia de Lange syndrome
Co-supervisor
 Biologia Aplicada (Degree)
Universidade do Minho, Portugal
2004 - 2004 Development of an integrated system of bioinformatic tools
Co-supervisor
 Engenharia Informática (Degree)
Instituto Politécnico do Porto Instituto Superior de Engenharia do Porto, Portugal

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2019/04/12 - 2019/04/13 2nd Practical course on computational tools and bioinformatics for next-generation sequencing (2019/04/12 - 2019/04/13)
Workshop (Co-organisor)
 Sociedade Portuguesa de Genética Humana, Portugal
2018/05/18 - 2018/05/19 Practical course on computational tools and bioinformatics for next-generation sequencing (2018/05/18 - 2018/05/19)
Workshop (Co-organisor)
 Sociedade Portuguesa de Genética Humana, Portugal

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2019/03/30 - 2019/03/30 Facilitator in the 7th National Congress of Neuromuscular Diseases
Congress
 7th National Congress of Neuromuscular Diseases
Sociedade Portuguesa de Estudos de Doenças Neuromusculares, Portugal
2018/05/23 - 2018/05/25 Statistic analysis with SPSS
Centro Hospitalar Universitário do Porto EPE, Portugal
2018 - 2018 Facilitator in the 23rd Anual meeting of the Portuguese Society of Human Genetics 23rd Anual meeting of SPGH
Sociedade Portuguesa de Genética Humana, Portugal
2016/03/04 - 2016/03/04 S5 System Workflow training course.
Other
Thermo Fisher Scientific Inc Pittsburgh, United States
2015/01/06 - 2015/01/09 Training course bioinformatics for molecular biologist
Other
 Bioinformatics for molecular biologist
Thermo Fisher Scientific Inc Pittsburgh, United States

Conference scientific committee

Conference name Conference host
2018 - 2018 European Human Genetics Conference 2018 Milan, Italy

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2024/01/10 - 2024/01/10 Neuromuscular diseases - Pathology and Molecular Genetics I (Mestrado) Instituto Politécnico do Porto Escola Superior de Saúde, Portugal
2022/01/26 - 2022/01/26 Neuromuscular diseases - Pathology and Molecular Genetics I MSc in Laboratory Technics in Biopathology Instituto Politécnico do Porto Escola Superior de Saúde, Portugal
2021/12/03 - 2021/12/03 Molecular Genetics and Genomics MSc in Clinical Laboratory Genetics (Mestrado) Universidade de Coimbra, Portugal
2021/04 - 2021/06 Clinical Molecular Genetics MSc Genetic Counselling (Mestrado) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2020/11/26 - 2020/11/26 Molecular Genetics and Genomics MSc in Clinical Laboratory Genetics (Mestrado) Universidade de Coimbra, Portugal
2019/09 - 2019/09 Technical basis of NGS; reporting and databases for sequencing results; Basics in Human Genetic Diagnostics: A course for CLGs in education (Pós-Graduação) Universidade de Coimbra, Portugal
2018/03/10 - 2018/03/10 Module II - Neonatal dysmorphology and genetics: Genetic Testing (II) - Molecular - NGS Neonatologia (Pós-Graduação) Centro Hospitalar Universitário do Porto EPE Centro Materno-Infantil do Norte Dr Albino Aroso, Portugal
2018/03/09 - 2018/03/09 Module II - Neonatal dysmorphology and genetics: Genetic Testing (II) Pre-natal diagnostics - new tests Neonatologia (Pós-Graduação) Centro Hospitalar Universitário do Porto EPE Centro Materno-Infantil do Norte Dr Albino Aroso, Portugal
2015/11/19 - 2015/11/19 From Phenotype to Genotype and back in neuromuscular disorders Doctoral programme in Health Sciences Universidade de Coimbra Faculdade de Medicina, Portugal

Evaluation committee

Activity description
Role 		Institution / Organization Funding entity
2020 - Current External evaluator of research grants
Evaluator
 Fundació la Marató de TV3

Interview (tv / radio show)

Program Topic
2020/02/13 - 2020/02/13 Health Marathon in "Praça da Alegria" Health Marathon: rare diseases
Distinctions

Award

2021 SPGH Best Clinical Research 2021 award for the oral presentation entitled "Incidental Carrier Detection of 639 Variants in Patients Tested for Diagnostic Purposes" (to Fátima Lopes; Jorge Oliveira senior author)
Sociedade Portuguesa de Genética Humana, Portugal
2015 PhD research grant
Centro Hospitalar Universitário do Porto EPE, Portugal
2015 Best poster award
Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
2015 Best oral communication (Genetics)
Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal
2009 Clinical Research Award (co-author)
Sociedade Portuguesa de Genética Humana, Portugal
2007 Fellowship award 12th WMS congress
World muscle society, United Kingdom
2007 Clinical Research Award (co-author)
Sociedade Portuguesa de Genética Humana, Portugal