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Fátima Daniela Teixeira Lopes. Concluiu o(a) Doutoramento em PhD in Health Sciences em 2017 pelo(a) Universidade do Minho Escola de Medicina, Doutoramento em Ciências da Saúde em 2017 pelo(a) Universidade do Minho, Mestrado em Master in Biotechnology - Molecular field em 2011 pelo(a) Universidade de Aveiro e Licenciatura em Pathologic, Cytologic and Thanatologic Anatomy em 2009 pelo(a) Instituto Politécnico do Porto Escola Superior de Saúde. É Técnico Superior no(a) Universidade de Aveiro Instituto de Biomedicina. Publicou 8 artigos em revistas especializadas. Atua na(s) área(s) de Ciências Médicas e da Saúde com ênfase em Medicina Básica com ênfase em Genética Humana e Ciências Médicas e da Saúde com ênfase em Ciências da Saúde. No seu currículo Ciência Vitae os termos mais frequentes na contextualização da produção científica, tecnológica e artístico-cultural são: Science & Technology; 7q33 CNVs; CALD1; AGBL3; EXOC4; CNOT4; Duplication; Ciências Médicas::Medicina Básica; 1q43-q44 CNVs; AKT3; Microcephaly; Macrocephaly; ZBTB18; SDCCAG8; Phenotypic expressivity; Epigenetics; Epilepsy; Intellectual disability; Neurodevelopment; CNVs; CNVs, Neurodevelopment, Genotype-phenotype correlation; CUL4B overexpression; Genotype-phenotype correlation; Rett syndrome; Whole exome sequencing; BMFS3; bone marrow failure syndrome; founder effect; genomic instability; genotype-phenotype; management; natural history; ribosome; telomere; EBF3; intellectual disability; syndrome; 10qter deletion; hypotonia; movement disorder; human genetics; genomics; .
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Identification

Personal identification

Full name
Fátima Daniela Teixeira Lopes

Citation names

  • Lopes, Fátima

Author identifiers

Ciência ID
7116-5C98-02F9
ORCID iD
0000-0001-9028-5668

Telephones

Telephone
  • 226074942 (Professional)

Addresses

  • CGPP - i3S, Rua Alfredo Allen, 208, 4200-135, Porto, Porto, Portugal (Professional)

Websites

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Medical and Health Sciences - Health Sciences

Languages

Language Speaking Reading Writing Listening Peer-review
English Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
Portuguese Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
Education
Degree Classification
2017
Concluded
 PhD in Health Sciences (Doutoramento)
Universidade do Minho Escola de Medicina, Portugal
"Deciphering the genetic basis of intellectual disability through unbiased genomic approaches" (THESIS/DISSERTATION)
 Very good
2011
Concluded
 Master in Biotechnology - Molecular field (Mestrado)
Universidade de Aveiro, Portugal
"Genomic imbalances in patients with intellectual disability " (THESIS/DISSERTATION)
 19/20
2009
Concluded
 Pathologic, Cytologic and Thanatologic Anatomy (Licenciatura)
Instituto Politécnico do Porto Escola Superior de Saúde, Portugal
"Estudo de mutações no gene CDKL5 em doentes Rett-like negativos para mutações no gene MECP2" (THESIS/DISSERTATION)
 14/20
Affiliation

Science

Category
Host institution 		Employer
2017/08/01 - 2018/03/31 Researcher (Research) Laboratório Associado ICVS 3B's, Portugal
Laboratório Associado ICVS 3B's, Portugal
2013/03/01 - 2017/09/18 Visiting Researcher (Research) Laboratório Associado ICVS 3B's, Portugal
Laboratório Associado ICVS 3B's, Portugal
2010/04/01 - 2013/02/28 Researcher (Research) Laboratório Associado ICVS 3B's, Portugal
Laboratório Associado ICVS 3B's, Portugal
2010/04/01 - 2010/06/15 Research Trainee (Research) VU medisch centrum School of Medical Sciences, Netherlands
VU medisch centrum School of Medical Sciences, Netherlands
2009/09/01 - 2010/03/31 Researcher (Research) Laboratório Associado ICVS 3B's, Portugal
Laboratório Associado ICVS 3B's, Portugal

Other Careers

Category
Host institution 		Employer
2019/07/15 - Current Técnico Superior (Técnico Superior) Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2018/04/01 - 2019/07/14 Técnico Superior (Técnico Superior) Universidade de Aveiro Instituto de Biomedicina, Portugal

Others

Category
Host institution 		Employer
2015/09/30 - 2016/09/30 Visiting PhD student Centre Hospitalier de l'Université de Montréal Centre de Recherche, Canada
Centre Hospitalier de l'Université de Montréal Centre de Recherche, Canada
Projects

Contract

Designation Funders
2018/04/01 - 2019/07/14 GenomePT - National Laboratory for Genome Sequencing and Analysis
POCI-01-0145-FEDER-022184
Other
Universidade de Aveiro, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2017/08/01 - 2018/03/31 Role of glial cells in the neurodegenerative process in Machado-Joseph disease
P2020-PTDC/NEU-NMC/3648/2014
Research Fellow
Laboratório Associado ICVS 3B's, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2010/04/01 - 2013/02/28 Idiopathic mental retardation: evaluation of a CGH microarray strategy for genetic diagnosis
PIC/IC/83026/2007
Research Fellow
Laboratório Associado ICVS 3B's, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
Outputs

Publications

Book chapter
  1. Bessa, C.; Lopes, F.; Maciel, P.. "Molecular Genetics of Intellectual Disability". In Latest Findings in Intellectual and Developmental Disabilities Research. InTech, 2012.
    Published • 10.5772/31269
Journal article
  1. Lopes, Fátima; Torres, Fátima; Soares, Gabriela; Barbosa, Mafalda; Silva, João; Duque, Frederico; Rocha, Miguel; et al. "Genomic imbalances defining novel intellectual disability associated loci". Orphanet Journal of Rare Diseases 14 1 (2019): http://dx.doi.org/10.1186/s13023-019-1135-0.
    10.1186/s13023-019-1135-0
  2. Feichtinger, René G.; Mucha, Bettina E.; Hengel, Holger; Orfi, Zakaria; Makowski, Christine; Dort, Junio; D’Anjou, Guy; et al. "Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy". Genetics in Medicine 21 11 (2019): 2521-2531. http://dx.doi.org/10.1038/s41436-019-0532-z.
    10.1038/s41436-019-0532-z
  3. Lopes, Fátima; Torres, Fátima; Soares, Gabriela; van Karnebeek, Clara D.; Martins, Cecília; Antunes, Diana; Silva, João; et al. "The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review". Frontiers in Genetics 10 (2019): http://dx.doi.org/10.3389/fgene.2019.00058.
    10.3389/fgene.2019.00058
  4. Lopes, F.; Miguet, M.; Mucha, B. E.; Gauthier, J.; Saillour, V.; Nguyen, C.-T. É.; Vanasse, M.; et al. "MYOD1 involvement in myopathy". European Journal of Neurology 25 12 (2018): e123-e124. http://dx.doi.org/10.1111/ene.13782.
    10.1111/ene.13782
  5. Lopes, Fátima. "Relevance of Copy Number Variation to Human Genetic Disease". eLS (2018): http://www.els.net/WileyCDA/ElsArticle/refId-a0020226.html.
    10.1002/9780470015902.a0020226.pub2
  6. D'Amours, G.; Lopes, F.; Gauthier, J.; Saillour, V.; Nassif, C.; Wynn, R.; Alos, N.; et al. "Refining the phenotype associated with biallelic DNAJC21 mutations". Clinical Genetics 94 2 (2018): 252-258. http://dx.doi.org/10.1111/cge.13370.
    10.1111/cge.13370
  7. Barbosa, Mafalda; Joshi, Ricky S.; Garg, Paras; Martin-Trujillo, Alejandro; Patel, Nihir; Jadhav, Bharati; Watson, Corey T.; et al. "Identification of rare de novo epigenetic variations in congenital disorders". Nature Communications 9 1 (2018): http://dx.doi.org/10.1038/s41467-018-04540-x.
    10.1038/s41467-018-04540-x
  8. Jobling, Rebekah; Stavropoulos, Dimitri James; Marshall, Christian R; Cytrynbaum, Cheryl; Axford, Michelle M; Londero, Vanessa; Moalem, Sharon; et al. "Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype ofMAGEL2-related disorders". Journal of Medical Genetics 55 5 (2018): 316-321. http://dx.doi.org/10.1136/jmedgenet-2017-105222.
    10.1136/jmedgenet-2017-105222
  9. Lopes, Fátima; Torres, Fátima; Lynch, Sally Ann; Jorge, Arminda; Sousa, Susana; Silva, João; Rendeiro, Paula; et al. "The contribution of 7q33 copy number variations for intellectual disability". neurogenetics 19 1 (2017): 27-40. http://dx.doi.org/10.1007/s10048-017-0533-5.
    10.1007/s10048-017-0533-5
  10. Lopes, Fátima; Soares, Gabriela; Gonçalves-Rocha, Miguel; Pinto-Basto, Jorge; Maciel, Patrícia. "Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease". Frontiers in Genetics 8 (2017): http://dx.doi.org/10.3389/fgene.2017.00143.
    10.3389/fgene.2017.00143
  11. Lopes, Fátima; Barbosa, Mafalda; Ameur, Adam; Soares, Gabriela; de Sá, Joaquim; Dias, Ana Isabel; Oliveira, Guiomar; et al. "Identification of novel genetic causes of Rett syndrome-likephenotypes". Journal of Medical Genetics 53 3 (2016): 190-199. http://dx.doi.org/10.1136/jmedgenet-2015-103568.
    10.1136/jmedgenet-2015-103568
  12. Vieira, José Pedro; Lopes, Fátima; Silva-Fernandes, Anabela; Sousa, Maria Vânia; Moura, Sofia; Sousa, Susana; Costa, Bruno M.; et al. "Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene". International Journal of Developmental Neuroscience 46 C (2015): 82-87. http://dx.doi.org/10.1016/j.ijdevneu.2015.07.010.
    10.1016/j.ijdevneu.2015.07.010
  13. Adegbola, Abidemi; Musante, Luciana; Callewaert, Bert; Maciel, Patricia; Hu, Hao; Isidor, Bertrand; Picker-Minh, Sylvie; et al. "Redefining the MED13L syndrome". European Journal of Human Genetics 23 10 (2015): 1308-1317. http://dx.doi.org/10.1038/ejhg.2015.26.
    10.1038/ejhg.2015.26
  14. Wen, Jiadi; Lopes, Fátima; Soares, Gabriela; Farrell, Sandra A; Nelson, Cara; Qiao, Ying; Martell, Sally; et al. "Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2". Orphanet Journal of Rare Diseases 8 1 (2013): 100. http://dx.doi.org/10.1186/1750-1172-8-100.
    10.1186/1750-1172-8-100
Online resource
  1. Lopes, Fátima; Torres, Fátima; Patrícia Espinheira de Sá Maciel. Relevance of Copy Number Variation to Human Genetic Disease. 2018. https://onlinelibrary.wiley.com/doi/abs/10.1002/9780470015902.a0020226.pub2.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2021/11/19 Incidental Carrier Detection of 639 Variants in Patients Tested for Diagnostic Purposes: Added Value for Genetic Counselling and a Glimpse about Recessive Diseases in Portugal. 25ª Reunião da Sociedade Portuguesa de Genética Humana
Sociedade Portuguesa de Genética Humana (Online, Portugal)
2021/09/22 Estimating true-positive rates of CNV detection by WES read depth-based analysis in 434 assays. 5th Variant Effect Prediciton Training Course
VEPTC (Online)
2016/11/10 Clinical exome sequencing: the importance of reanalyzing unsolved cases. Sociedade Portuguesa de Genética Humana
Sociedade Portuguesa de Genética Humana (Coimbra, Portugal)
2015/04/25 Identification of novel genetic causes of Rett syndrome-like phenotypes Genetics of Intellectual Disability: an update
ICVS / 3Bs (Braga, Portugal)
2015/02/06 Identification of novel genetic causes of Rett syndrome-like phenotypes Next Generation and Clinical Diagnosis
INSA (Porto, Portugal)
2012/11/22 Whole exome sequencing in patients with a Rett-like phenotype Sociedade Portuguesa de Genética Humana
Sociedade Portuguesa de Genética Humana (Porto, Portugal)
2011/11/10 Bioinformatic approaches for the identification of key cognition genes in large genomic imbalances detected by aCGH 15ª Reunião da Sociedade Portuguesa de Genética Humana
Sociedade Portuguesa de Genética Humana (Lisboa, Portugal)
Distinctions

Award

2021 SPGH Award - Best Clinical Research