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Paula Jorge, Assistant Professor of Genetics and Genomics at the School of Medicine and Biomedical Sciences, University of Porto (ICBAS-UP), is dedicated to pedagogical excellence and innovation while seamlessly integrating with her leadership of the Clinical and Experimental Human Genomics (CEHG) research group at UMIB. Her influence extends to the directorship of the ICBAS Cytogenetics Laboratory, where she preserves the legacy of Prof.ª Beatriz Porto, a national pivotal figure in Fanconi Anemia diagnostics. With a robust academic foundation, including a degree in Biochemistry (1991) and a doctorate in Biomedical Sciences (ICBAS-UP), with a thesis entitled "X-linked Adrenoleukodystrophy (X-ALD): biochemical and molecular studies" (2001), she has cultivated a clinical laboratory geneticist distinguished career spanning over three decades. Her work is characterized by pioneering research and methodological innovation. Notably, her seminal publication in PNAS (DOI: 10.1073/pnas.92.5.1674) laid the groundwork for gene therapy for X-ALD, now a basis of clinical practice. More recently her work allowed the inclusion of Congenital Disorder of Deglycosylation-2 in the OMIM database (# 619775). Recognized by the European Board of Medical Genetics as a European Registered Clinical Laboratory Geneticist (ErCLG), she is an active and influential member of the national and international scientific communities. Her participation in prestigious consortia, including EUGLOH, EMQN, and COST Actions (CA16210, CA21113, CA21105, and IG16210), underscores her commitment to collaborative, cross-disciplinary research. In her roles as Coordinator of the Scientific Committee of the Portuguese Society of Human Genetics (SPGH) and member of the Commission for Clinical and Laboratory Specialties in Medical Genetics (SPGH | CEsp-CLGM), she is instrumental in fostering collaboration and harmonizing national laboratory practices with European directives. Paula Jorge's dedication to translational research is exemplified by her project "Finding the X-EPIgeneTic burden in FEmale infeRTILITY" (2021-2024), which addresses a critical social challenge. This work culminated in the patenting of a mathematical formula for evaluating female reproductive function (PT115244B), a testament to her ability to translate research into tangible clinical applications. Beyond her research and teaching, she is deeply committed to mentoring young scientists and engaging with patient advocacy groups. Her commitment to refining clinical laboratory practice is further evidenced by the recent work on the reclassification of copy-number variants of unknown significance (CNVUS) in neurodevelopmental disorders, demonstrating that the application of ACMG/ClinGen scoring significantly improves variant classification, while highlighting the limited utility of routine inheritance studies in this context. This multifaceted approach underscores her unwavering dedication to the practical application of scientific knowledge for the betterment of society.
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Identification

Personal identification

Full name
Paula Maria Vieira Jorge

Citation names

  • Jorge, Paula

Author identifiers

Ciência ID
FD15-9412-CF3F
ORCID iD
0000-0002-6507-222X
Google Scholar ID
II7gfKwAAAAJ&hl
Researcher Id
ABD-7665-2020
Scopus Author Id
7005566496

Email addresses

  • pmjorge@icbas.up.pt (Professional)

Websites

  • pt.linkedin.com/pub/paula-jorge/23/648/5a3/ (Social media)
  • http://www.researchgate.net/profile/Paula_Jorge (Professional)

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Natural sciences - Biological Sciences - Biochemical Research Methods
  • Medical and Health Sciences

Languages

Language Speaking Reading Writing Listening Peer-review
English Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
French Intermediate (B1) Advanced (C1) Beginner (A1) Intermediate (B1)
Spanish; Castilian Intermediate (B1) Intermediate (B1) Beginner (A1) Intermediate (B1)
Education
Degree Classification
2015/01/01 - 2015/01/01
Ongoing
 Clinical Laboratory Geneticists (Postgraduate Certificate)
Major in https://www.ebmg.eu/667.0.html
European Board of Medical Genetics (EBMG), Austria
2001/06/18
Concluded
 Ciências Biomédicas (Doutoramento)
Major in Sem especialidade
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Adrenoleucodistrofia Ligada ao Cromossoma X: Estudos Bioquímicos e Moleculares" (THESIS/DISSERTATION)
1991
Concluded
 Bioquímica (Bachelor)
Universidade do Porto Faculdade de Ciencias, Portugal
 Catorze valores
Affiliation

Science

Category
Host institution 		Employer
2013/01/02 - Current Researcher (Research) Universidade do Porto Instituto de Ciencias Biomedicas Abel Salazar, Portugal

Teaching in Higher Education

Category
Host institution 		Employer
2024/02/15 - Current Assistant Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019/09/10 - 2024/02/11 Invited Assistant Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2013 - 2019/02/01 Invited Teacher Coordinator (Polytechnic Teacher) Escola Superior de Enfermagem de Santa Maria, Portugal
2000/09/01 - 2019/02/01 Invited Teacher Coordinator (Polytechnic Teacher) Escola Superior de Saúde de Santa Maria: ESSSM, Portugal
2016 - 2019 Invited Teacher Coordinator (Polytechnic Teacher) Escola Superior de Saúde de Santa Maria: ESSSM, Portugal
2016 - 2019 Invited Teacher Coordinator (Polytechnic Teacher) Escola Superior de Saúde de Santa Maria, Portugal
2001 - 2019 Invited Teacher Coordinator (Polytechnic Teacher) Escola Superior de Enfermagem de Santa Maria, Portugal
2013 - 2016 Main Coordinator Teacher (Polytechnic Teacher) Escola Superior de Saúde de Santa Maria: ESSSM, Portugal
2013 - 2016 Invited Teacher Coordinator (Polytechnic Teacher) Escola Superior de Enfermagem de Santa Maria, Portugal

Other Careers

Category
Host institution 		Employer
1997/09/03 - 2024/02/14 Assistente Principal (Técnico Superior de Saúde) Centro de Genética Médica Jacinto de Magalhães, Centro Hospitalar do Porto, CHP, E.P.E., Portugal

Others

Category
Host institution 		Employer
2015/09/01 - Current Registo europeu Clinical Laboratory Geneticist-ErCLG European Board of Medical Genetics (EBMG), Austria
2020/10/01 - 2023/01/01 MINDDS COST ACTION ITC Grant Coordinator European Cooperation in Science and Technology, Belgium
European Cooperation in Science and Technology, Belgium
Projects

Grant

Designation Funders
2019/01 - 2023 Role of metabolic profile and FMR1 modifiers in female fertility
SFRH/BD/136398/2018
Supervisor
Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
1992 - 1995 Adrenoleucodistrofia Ligada ao Cromossoma X: Estudos Bioquímicos e Moleculares
BD/2290/92
PhD Student Fellow
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
1992 - 1995 Adrenoleucodistrofia Ligada ao Cromossoma X: Estudos Bioquímicos e Moleculares
BD/2290/92
 Fundação para a Ciência e a Tecnologia

Contract

Designation Funders
2021/01/03 - Current Investigar o impacto da epigenética associada ao cromossoma X na infertilidade feminina
EXPL/BIA-REP/0423/2021
Principal investigator
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2015/12 - Current MOLECULAR CAUSES OF INTELLECTUAL DISABILITY AND DEVELOPMENTAL DISORDERS
BOLSA DEFI 145/12
Supervisor
Universidade do Porto
2021/01/01 - 2025/12/31 Laboratory for Integrative and Translational Research in Population Health
LA/P/0064/2020
10.54499/LA/P/0064/2020
Universidade do Porto Faculdade de Desporto, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Universidade do Porto Unidade de Investigação em Epidemiologia, Portugal

Universidade do Porto Instituto de Saúde Pública, Portugal

Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal

Universidade do Porto Centro de Investigação em Actividade Física Saúde e Lazer, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2020/01/01 - 2023/01/01 Unidade Multidisciplinar de Investigação Biomédica - UMIB Unit for Multidisciplinary Research in Biomedicine
UIDB/00215/2020
Researcher
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2014 - 2018 Genetic variants discovery in Lujan-Fryns and Opitz-Kaveggia syndromes
Refª. 241/13 (154-DEFI/193-CES)
Researcher
Universidade do Porto
2009/03/01 - 2012/12/31 Clinical implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction
PIC/IC/82897/2007
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2009/03 - 2012/12 Implicações clínicas dos factores genéticos envolvidos em doenças neurodegenerativas caracterizadas por alterações do movimento ou cognitivas
grant.Provided by PTCRIS: 82897
Researcher
Foundation for Science and Technology
1999 - 2001 Molecular characterisation of hTPO gene in a cohort of congenital hypothyroidism patients diagnosed in the Portuguese Newborn Screening Programme
Projeto n.º 163/99
Researcher
Ministerio da Saude
1995/10/01 - 1996/09/30 CARACTERIZAÇÃO BIOQUÍMICA E MOLECULAR DA ADRENOLEUCODISTROFIA LIGADA AO CROMOSSOMA X
PRAXIS XXI/BD/5289/95
Universidade do Porto Faculdade de Ciências, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded

Other

Designation Funders
2014/03/11 - 2016/05/31 Criação de um BIOBANCO
DEFI - CHUP, EPE
Centro Hospitalar Universitário de Santo António, Portugal
2014/04/01 - 2014/12/31 Avaliação do impacto da Síndrome do X-Frágil em doentes e cuidadores ¿ Canadá, Reino Unido e Portugal
HAFQ056B5006
Outputs

Publications

Book
  1. Franco, V.; Martins, M.; Jorge, P.; Ferreira, F.; Bertão, A.; Apolónio, A.; Pires, H.; et al. Sindrome de X frágil: pessoas, contextos & percursos. Edições Aloendro. 2013.
Book chapter
  1. Jorge, Paula. "Study of the FMR1 Gene Structure among Women with Ovarian Dysfunction from the Basque Country (Chapter 3 )". In Advances in Genetics Research 13. Nova Science Publishers, Inc, 2014.
    Published
Conference abstract
  1. Inácio, Joana; Vieira, Adriana A.; Almada-Correia, I; Neves, Ema; Jorge, Paula; Khmelinskii, Nikita; Maria José Santos; Simão Teixeira da Rocha; Patrícia Costa-Reis. "The X-Lupus study: unveiling the role of the X-Chromosome in the pathogenesis of systemic lupus erythematosus and lupus nephritis". Paper presented in 56th Annual Meeting of the ESPN, 2024.
  2. Pires, Sílvia; Jorge, Paula; Liehr, Thomas; Natalia Oliva Teles. "Classification of human chromosomal heteromorphisms: a contribution to the lack of a universal scoring system". Paper presented in European Human Genetics Conference 2024, Berlim, 2024.
    Published
  3. Marina Mihaljevic; Benjamin Huremagic; Janet Harwood; Jorge, Paula; Natália Oliva-Teles; Beata Novakowska; Geert Vandeweyer; et al. Corresponding author: Marina Mihaljevic. "“MINDDS-CONNECT” – federated data sharing platform for neurodevelopmental disorders and rare genetic mutations.". Paper presented in World Congress of Psychiatric Genetics (WCPG), Montreal, 2023.
    Published
  4. Maia, Nuno; Loureiro, Joana R; Oliveira, Bárbara; Marques, Isabel; Santos, Rosário; Martins, Sandra; Jorge, Paula. "Origin of normal-size FMR1 alleles without AGG interspersions". Paper presented in UMIB Summit 2015, Porto, 2016.
    Published • 10.1097/MD.0000000000002371
Conference paper
  1. Inácio, Joana; Vieira, Adriana A.; Almada-Correia, I; Neves, Ema; Jorge, Paula; Nunes-Cabaço, Helena; Khmelinskii, Nikita; et al. "X Chromosome Inactivation in Systemic Lupus Erythematosus". Paper presented in 2º Congresso Português de Reumatologia Pediátrica, 2024.
  2. Rodrigues, Bárbara; Sousa, Vanessa; Esteves, Filipa; Pires, Joana; Sousa, Daniela; Brandão, Raquel; Leal, Carla; et al. "Cumulus cells damage can help to indirectly predict oocyte quality in infertile females undergoing ICSI". 2023.
  3. Leão, Celina P.; Soares, Filomena; Esteves, João Sena; Jorge, Paula. "Eggs, Oranges and Other Technological Devices in Science Dissemination". 2017.
    10.1115/imece2016-66648
  4. Leão, C.P.; Soares, F.; Esteves, J.S.; Jorge, P.. "EGGS, Oranges and other technological devices in science dissemination". 2016.
    10.1115/IMECE201666648
  5. Maia, Nuno; Marques, Isabel; Jorge, Paula; Santos, Rosário. "Advances in fragile-x testing". 2014.
  6. Ramos, Lina; Jorge, Paula; Marques, Bárbara; Avila, Madalena; Rendeiro, Paula; Quelhas, Maria Dulce; Melo, Joana B.; Marques Carreira, Isabel. "The Clinical Laboratory Genetics profession in Portugal". 2013.
  7. Jorge, P.; Marques, I.; Oliveira, B.; Santos, R.. "A multiplex assay for x-linked intellectual disability assessment". 2013.
  8. Sá, M.J.; Soares, G.; Silva, J.; Fortuna, A.; Santos, R.; Marques, I.; Jorge, P.. "Arx-related disorders: several distinct phenotypes, one mutated gene". 2013.
  9. Jorge, Paula; Marques, Isabel; Gonçalves, Rui; Gonçalves-Rocha, Miguel; Santos, Rosário. "Study of FRAXE-MR in intellectually disabled individuals referred for Fragile-X Syndrome testing in Portugal". 2012.
  10. Javed, Ali; G., Ali; Caicedo, Lina; Marques, Isabel; Santos, Rosário; Jorge, Paula; Ali, Javed; Ali, G.. "FRAXE molecular diagnosis in individuals referred for FRAXA screening". 2012.
  11. Loureiro, Joana; Jorge, Paula; Marques, Isabel; Santos, Rosário; Seixas, Ana; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, Isabel. "Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypes". 2012.
  12. Carmona, Carla; Marques, Isabel; Santos, Rosário; Jorge, Paula. "Desenvolvimento Neuropsicológico na Síndrome de X-Frágil: interpretar os perfis de desenvolvimento.". 2012.
  13. Amado, Marta; Marques, Isabel; Jorge, Paula; Santos, Rosário; Monteiro, José Paulo; Marçal-Delgado, Cristina. "Mutações no gene ARX e associação ao défice mental ligado ao X". 2011.
  14. Jorge, Paula; Marques, Isabel; Oliveira, Bárbara; Santos, Rosário. "A multiplex assay for X-linked intellectual disability assessment". 2011.
  15. Marques, Isabel; Jorge, Paula; Loureiro, Joana; Santos, Rosário. "Evaluating the influence of four variants detected in the FRAXA and FRAXE loci". 2011.
  16. Loureiro, Joana; Marques, Isabel; Oliveira, Bárbara; Amorim, António; Santos, Rosário; Jorge, Paula. "Fragile X Syndrome: Genetic Backgrouds". 2010.
  17. Oliveira, Bárbara; Marques, Isabel; Loureiro, Joana; Santos, Rosário; Jorge, Paula. "Fragile X Mental Retardation Protein: broadening the possibilities for studying Fragile X Syndrome". 2010.
  18. Santos, Rosário; Vieira, Emília; Rodrigues, Carina; Jorge, Paula; Pires, M. Melo; Guimarães, Ana Paula; Coelho, T.; et al. "Mutation spectrum and phenotypes of thirty Portuguese families with autosomal recessive limb-girdle muscular dystrophy". 1999.
Conference poster
  1. Maia, Nuno; Loureiro, Joana R; Oliveira, Barbara; Marques, Isabel; Santos, Rosário; Jorge, Paula; Martins, Sandra. "Are pure normal FMR1 alleles originated from contractions of expanded repeats?". Paper presented in 17th meeting Portugaliae Genetics, Porto, Portugal, 2016.
  2. Loureiro, Joana R; Jorge, Paula; Marques, Isabel; Santos, Rosário; Seixas, Ana I; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, Isabel. "Fragile X Syndrome: Intergenerational allele instabillity and associated phenotypes in families". Paper presented in 16ª Reunião anual da SPGH [16th Annual Meeting of the Portuguese Society of Human Genetics], Porto, Portugal, 2012.
  3. Marques, Isabel; Jorge, Paula; Loureiro, Joana R; Santos, Rosário. "Evaluating the influence of four variants detected in FRAXA and FRAXE loci". Paper presented in 15ª Reunião anual da SPGH [15th Annual Meeting of the Portuguese Society of Human Genetics], Lisboa, Portugal, 2011.
  4. Loureiro, Joana R; Marques, Isabel; Oliveira, Barbara; Amorim, António; Santos, Rosário; Jorge, Paula. "Fragile X Syndrome: Genetic Backgrounds". Paper presented in Congresso Nacional de Bioquímica, [Biochemistry National Congress], Porto, Portugal, 2010.
  5. Loureiro, Joana R; Marques, Isabel; Costa, Eurico; Oliveira, Barbara; Santos, Rosário; Jorge, Paula. "SNP genotyping of FMR1 gene by high resolution melting curve analysis". Paper presented in 14ª Reunião da SPGH [14th Annual Meeting of the Portuguese Society of Human Genetics], Coimbra, Portugal, 2010.
  6. Oliveira, Barbara; Marques, Isabel; Loureiro, Joana R; Santos, Rosário; Jorge, Paula. "FMR1 repeat region instability assessment by Triplet-Primed PCR". Paper presented in 14ª Reunião da SPGH [14th Annual Meeting of the Portuguese Society of Human Genetics], Coimbra, Portugal, 2010.
Journal article
  1. Da Silva, Jorge Diogo; Maia, Nuno; Jorge, Paula; Sousa, Vanessa; Tkachenko, Nataliya; Soares, Ana Rita. "Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating". Journal of Medical Genetics 62 4 (2025): 298-302. https://doi.org/10.1136/jmg-2024-110144.
    Published • 10.1136/jmg-2024-110144
  2. Sílvia Pires; Paula Jorge; Thomas Liehr; Natália Oliva-Teles. "Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system". Human Genome Variation (2024): https://doi.org/10.1038/s41439-024-00295-8.
    10.1038/s41439-024-00295-8
  3. Neri, Sabrina; Maia, Nuno; Fortuna, Ana M.; Damasio, Joana; Coale, Elizabeth; Willis, Mary; Jorge, Paula; et al. "Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes". European Journal of Medical Genetics 65 11 (2022): 104624. http://dx.doi.org/10.1016/j.ejmg.2022.104624.
    10.1016/j.ejmg.2022.104624
  4. Maia, Nuno; Potelle, Sven; Yildirim, Hamide; Duvet, Sandrine; Akula, Shyam K.; Schulz, Celine; Wiame, Elsa; et al. "Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder". The American Journal of Human Genetics 109 2 (2022): 345-360. http://dx.doi.org/10.1016/j.ajhg.2021.12.010.
    10.1016/j.ajhg.2021.12.010
  5. Nuno Maia; Maria João Nabais Sá; Oliveira, C.; Flávia Santos; Célia Azevedo Soares; Catarina Prior; Nataliya Tkachenko; et al. "Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?". Genes (2021): https://www.mdpi.com/2073-4425/13/1/78.
    10.3390/genes13010078
  6. Maia, Nuno; Nabais Sá, Maria João; Melo-Pires, Manuel; de Brouwer, Arjan P. M.; Jorge, Paula. "Intellectual disability genomics: current state, pitfalls and future challenges". BMC Genomics 22 1 (2021): http://dx.doi.org/10.1186/s12864-021-08227-4.
    10.1186/s12864-021-08227-4
  7. Silva, Cecília; Maia, Nuno; Santos, Flávia; Rodrigues, Bárbara; Marques, Isabel; Santos, Rosário; Jorge, Paula. "Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions". Scientific Reports 11 1 (2021): http://dx.doi.org/10.1038/s41598-021-93473-5.
    Published • 10.1038/s41598-021-93473-5
  8. Polla, Daniel L.; Edmondson, Andrew C.; Duvet, Sandrine; March, Michael E.; Sousa, Ana Berta; Lehman, Anna; Niyazov, Dmitriy; et al. "Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation". The American Journal of Human Genetics 108 7 (2021): 1342-1349. http://dx.doi.org/10.1016/j.ajhg.2021.05.010.
    Published • 10.1016/j.ajhg.2021.05.010
  9. Natália Oliva Teles; Natália Teles; N Teles; N Oliva Teles; Natália Olívia Teles; N O Teles;; Maria Chiara de Stefano; Louise Gallagher; Severin Rakic; Jorge, P.; Goran Cuturilo; Silvana Markovska-Simoska; et al. "Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature". International Journal of Environmental Research and Public Health (2020): https://www.mdpi.com/1660-4601/17/24/9253.
    10.3390/ijerph17249253
  10. Rodrigues, Bárbara; Vale-Fernandes, Emídio; Maia, Nuno; Santos, Flávia; Marques, Isabel; Santos, Rosário; Nogueira, António J. A.; Jorge, Paula. "Development and Validation of a Mathematical Model to Predict the Complexity of FMR1 Allele Combinations". Frontiers in Genetics 11 (2020): http://dx.doi.org/10.3389/fgene.2020.557147.
    10.3389/fgene.2020.557147
  11. Chawner SJRA; Mihaljevic M; Morrison S; Eser HY; Maillard AM; Nowakowska B; MINDDS Consortium; van den Bree MBM; Swillen A. "Pan-european landscape of research into neurodevelopmental copy number variants: a survey by the MINDDS consortium.". European journal of medical genetics (2020): http://europepmc.org/abstract/med/33160096.
    10.1016/j.ejmg.2020.104093
  12. Jorge, Paula. "Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20". Frontiers in Genetics 11 (2020): http://dx.doi.org/10.3389/fgene.2020.01038.
    10.3389/fgene.2020.01038
  13. Nuno Maia; Ana Rita Soares; Ana Maria Fortuna; Isabel Marques; Ana Gonçalves; Rosário Santos; Manuel Melo Pires; Arjan P. M. de Brouwer; Paula Jorge. "Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB". Clinical Case Reports (2020): https://doi.org/10.1002/ccr3.3146.
    10.1002/ccr3.3146
  14. Jorge, Paula. "Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters". European journal of human genetics : EJHG (2019): http://europepmc.org/abstract/PMC/PMC6876493.
  15. Jorge, Paula. "Proceedings of the 22nd Annual Meeting of the Portuguese Society of Human Genetics". Medicine 98 26 (2019): e15772. http://dx.doi.org/10.1097/md.0000000000015772.
    10.1097/md.0000000000015772
  16. Salgado, P.; Carvalho, R.; Brandão, A.F.; Jorge, P.; Ramos, C.; Dias, D.; Alonso, I.; Magalhães, M.. "Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge". eNeurologicalSci 14 (2019): 9-12. http://www.scopus.com/inward/record.url?eid=2-s2.0-85057264031&partnerID=MN8TOARS.
    10.1016/j.ensci.2018.11.022
  17. Paula Jorge; Elsa Garcia; Ana Gonçalves; Isabel Marques; Nuno Maia; Bárbara Rodrigues; Helena Santos; et al. "Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies". BMC Medical Genetics 19 1 (2018): https://doi.org/10.1186/s12881-018-0589-6.
    10.1186/s12881-018-0589-6
  18. Maia, N.; Nabais Sá, M.J.; Tkachenko, N.; Soares, G.; Marques, I.; Rodrigues, B.; Fortuna, A.M.; et al. "Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome". Molecular Syndromology 9 1 (2017): 45-51. http://www.scopus.com/inward/record.url?eid=2-s2.0-85028759644&partnerID=MN8TOARS.
    10.1159/000479177
  19. Maia, N.; Loureiro, J.R.; Oliveira, B.; Marques, I.; Santos, R.; Jorge, P.; Martins, S.. "Contraction of fully expanded FMR1 alleles to the normal range: Predisposing haplotype or rare events?". Journal of Human Genetics 62 2 (2017): 269-275. http://www.scopus.com/inward/record.url?eid=2-s2.0-85010877200&partnerID=MN8TOARS.
    10.1038/jhg.2016.122
  20. Maia, Nuno; Marques, Isabel; Santos, Rosário; Jorge, Paula. "FRAGILE X SYNDROME MOSAIC CASES PRESENTING NORMAL-SIZED ALLELES: HOW MANY ARE WE MISSING?". (2016): http://revistas.rcaap.pt/nascercrescer/article/view/10537.
    10.25753/BirthGrowthMJ.v25.i0.10537
  21. "Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.". Molecular genetics & genomic medicine (2015): http://europepmc.org/abstract/med/26029707.
    10.1002/mgg3.133
  22. Bougacha-Elleuch, N.; Charfi, N.; Miled, N.; Bouhajja, H.; Belguith, N.; Mnif, M.; Jaurge, P.; et al. "Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect". European Journal of Pediatrics 174 11 (2015): 1491-1501. http://www.scopus.com/inward/record.url?eid=2-s2.0-84945455418&partnerID=MN8TOARS.
    10.1007/s00431-015-2550-4
  23. Bougacha-Elleuch, N.; Charfi, N.; Miled, N.; Bouhajja, H.; Belguith, N.; Mnif, M.; Jorge, P.; et al. "Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect(Eur J Pediatr, (2015), 174, 1491-1501, Doi:10.1007/s00431-015-2550-4)". European Journal of Pediatrics 174 12 (2015): http://www.scopus.com/inward/record.url?eid=2-s2.0-84948580177&partnerID=MN8TOARS.
    10.1007/s00431-015-2669-3
  24. Marques, I.; Sá, J.; Soares, G.; Mota, M.; Pinheiro, C.; Aguiar, L.; Amado, M.; et al. "Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach". (2015): http://hdl.handle.net/10400.16/1748.
    doi: 10.1002/mgg3.133
  25. "A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis.". Journal of clinical medicine (2014): http://europepmc.org/abstract/med/26237480.
    10.3390/jcm3030838
  26. Jorge, P.; Oliveira, B.; Marques, I.; Santos, R.. "Development and validation of a multiplex-PCR assay for X-linked intellectual disability". BMC Medical Genetics 14 1 (2013): http://www.scopus.com/inward/record.url?eid=2-s2.0-84880966469&partnerID=MN8TOARS.
    10.1186/1471-2350-14-80
  27. Jorge, P.; Oliveira, B.; Marques, I.; Santos, R.. "Development and validation of a multiplex-PCR assay for X-linked intellectual disability". (2013): http://hdl.handle.net/10400.16/1561.
  28. Pires, S.; Nogueira, A.J.A.; Pinho, O.; Delgado, T.; Sousa, M.; Santos, R.; Jorge, P.; et al. "Statistical approach to prenatal zygosity assessment following a decade of molecular aneuploidy screening". Twin Research and Human Genetics 14 3 (2011): 221-227. http://www.scopus.com/inward/record.url?eid=2-s2.0-79957636803&partnerID=MN8TOARS.
    10.1375/twin.14.3.221
  29. Seixas, Ana; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana; et al. "FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes". Behavioral and Brain Functions 7 (2011): http://hdl.handle.net/10400.18/739.
    Open access • doi:10.1186/1744-9081-7-19
  30. Nogueira, Célia; Vaz Osório, Rui; Santos, Rosário; Jorge, Paula. "Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogénese". (2011): http://hdl.handle.net/10400.18/606.
    Open access
  31. 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
  32. Rodrigues, C.; Jorge, P.; Pires Soares, J.; Santos, I.; Salomão, R.; Madeira, M.; Osório, R.V.; Santos, R.. "Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism". European Journal of Endocrinology 152 2 (2005): 193-198. http://www.scopus.com/inward/record.url?eid=2-s2.0-14644443006&partnerID=MN8TOARS.
    10.1530/eje.1.01826
  33. Maugeri, A.; Flothmann, K.; Hemmrich, N.; Ingvast, S.; Jorge, P.; Paloma, E.; Patel, R.; et al. "The ABCA4 2588G > C Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe". European Journal of Human Genetics 10 3 (2002): 197-203. http://www.scopus.com/inward/record.url?eid=2-s2.0-18344372185&partnerID=MN8TOARS.
    10.1038/sj/ejhg/5200784
  34. dos Santos, M.R.; Jorge, P.; Ribeiro, E.M.; Pires, M.M.; Guimarães, A.. "Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online.". Human mutation 12 3 (1998): 214-215. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032222492&partnerID=MN8TOARS.
  35. Jorge, P.; Brites, P.; Nogueira, A.; Aubourg, P.. "Mutational analysis of an X-linked adrenoleukodystrophy (ALD) patient with detectable ALD protein". Annals of the New York Academy of Sciences 804 (1996): 756-759. http://www.scopus.com/inward/record.url?eid=2-s2.0-0030481139&partnerID=MN8TOARS.
    10.1111/j.1749-6632.1996.tb18692.x
  36. Cartier, N.; Lopez, J.; Moullier, P.; Rocchiccioli, F.; Rolland, M.-O.; Jorge, P.; Mosser, J.; et al. "Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts". Proceedings of the National Academy of Sciences of the United States of America 92 5 (1995): 1674-1678. http://www.scopus.com/inward/record.url?eid=2-s2.0-0028962332&partnerID=MN8TOARS.
    10.1073/pnas.92.5.1674
  37. Jorge, P.; Quelhas, D.; Oliveira, P.; Pinto, R.; Nogueira, A.. "X-linked adrenoleukodystrophy in patients with idiopathic addison disease". European Journal of Pediatrics 153 8 (1994): 594-597. http://www.scopus.com/inward/record.url?eid=2-s2.0-0027992416&partnerID=MN8TOARS.
    10.1007/BF02190668
  38. Jorge, P.; Quelhas, D.; Nogueira, A.. "Characterization of X-linked adrenoleukodystrophy in different biological specimens from ten Portuguese families". Journal of Inherited Metabolic Disease 16 1 (1993): 55-62. http://www.scopus.com/inward/record.url?eid=2-s2.0-0027518892&partnerID=MN8TOARS.
    10.1007/BF00711315
  39. Nogueira, A.; Jorge, P.; Dores, J.; Cunha, M.; Sousa, S.; Pereira, I.; Campos, M.; et al. "X-linked adrenoleukodystrophy and haemophilia A in the same kindred". Journal of Inherited Metabolic Disease 16 3 (1993): 595-598. http://www.scopus.com/inward/record.url?eid=2-s2.0-0027244740&partnerID=MN8TOARS.
    10.1007/BF00711691
Thesis / Dissertation
  1. Rodrigues, Bárbara Luísa Cerqueira. "The influence of the Fragile X Mental Retardation-1 (FMR1) gene CGG repetitive region in the female reproductive function". Master, 2018. http://hdl.handle.net/10773/22001.
  2. Loureiro, Joana Maria Geraldes da Rocha, 1987-. "Síndrome de X-frágil em Portugal: caracterização molecular por SNPs e STRs". Master, 2010. http://hdl.handle.net/10451/2784.
  3. Jorge, Paula Maria Vieira. "Adrenoleucodistrofia ligada ao cromossoma X : Estudos bioquímicos e moleculares". 2000. http://hdl.handle.net/10216/9951.

Intellectual property

Patent
  1. Jorge, Paula; Nogueira, António José Arsénia; Rodrigues, Bárbara. 2019. "METHOD OF EVALUATING FEMALE REPRODUTIVE FUNCTION". Portugal.
    Allowed
  2. Rodrigues, Bárbara; Nogueira, António José Arsénia; Jorge, Paula. 2019. "MÉTODO DE AVALIAÇÃO DA FUNÇÃO REPRODUTORA FEMININA - Nacional". Portugal.
    Granted/Issued
Provisional application for patent
  1. 2019. "METHOD OF EVALUATING FEMALE REPRODUTIVE FUNCTION".
    Protected

Other

Other output
  1. FMR1 premutations may be associated with a wider spectrum of phenotypes. The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5’UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiol. 2011. Seixas, Ana; Vale, José; Martins, Márcia; Loureiro, Joana; Jorge, Paula; Maques, Isabel; Santos, Rosário; et al. http://hdl.handle.net/10400.18/655.
  2. Premature ovarian insufficiency caused by FMR1 premutations may be underdiagnosed. 2nd advanced course. The FMR1 gene [Xq27.3; MIM*309550] has an unstable region comprised of CGG triplets located the 5´untranslated region. Based on the number of those repeats alleles are classified as normal, intermediate, premutation or full mutation, respectively from triplet numbers between 5 to 49, 50 to 58, 59-200 or over 200 CGG triplets. Full mutation-size expansions are associated with. 2011. Marques, Isabel; Jorge, Paula; Santos, Rosário. http://hdl.handle.net/10400.18/657.
Activities

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2024 - Current Role of DNA repair genes in female fertility in search of a tool with clinical utility
Supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2024 - Current Chromosomal heteromorphisms and human infertility: cytogenetic identification, cytogenomic characterization and phenotypic correlation
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2020 - Current “SpermChannels: Association of CFTR/Aquaglyceroporin interaction and (dys)function in spermatozoa to male fertility”
Co-supervisor
 Male fertility (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019 - Current Role of metabolic profile and FMR1 modifiers in female fertility
Supervisor
 Female fertility (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021 - 2024 SpermChannels: CFTR and Aquaglyceroporins as key modulators of sperm function
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2016 - 2021 Molecular causes of intellectual disability and developmental disorders
Supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2020 - 2020 The role of HDAC8 in the maintenance of mitotic fidelity
Supervisor
 Biologia Celular e Molecular (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2017 - 2017 The influence of the Fragile Mental Retardation-1 (FMR1) gene CGG repetitive region in the female reproductive function
Supervisor
 Biologia Molecular e Celular (Master)
Universidade de Aveiro, Portugal

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2018/01/30 - 2022/05/31 COST Action 16210 – Maximizing Impact of Research in Neurodevelopmental Disorders (MINDDS) members Natália Oliva Teles and Paula Jorge organized a Workshop, in Porto, Portugal. As part of their general activity of dissemination of this COST Action, the specific aim of this Workshop is to facilitate patient’s cohort building who carry neurodevelopmental disorders, enhance a network of academics and practitioners and address the themes of our Workshop: Neurodevelopmental Disorders and Genomics and Copy Number Variants (CNV) in Neurological Disorders, (2020/01/30 - 2020/01/31)
Workshop (Co-organisor)
 Centro de Genética Médica Jacinto de Magalhães, Centro Hospitalar do Porto, CHP, E.P.E., Portugal

Jury of academic degree

Topic
Role 		Candidate name (Type of degree)
Institution / Organization
2025/03/07 Inherited predidposition to gastric cancer: novel susceptibility genes and a minimally invasive screening strategy in germline mutation carriers Joana Sofia Gonçalves Guerra (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2025/01/21 Behavioral Changes in a Zebrafish Model of Spinocerebellar Ataxia Type 37
(Thesis) Main arguer
 Nadine Almeida Peixoto (Master)
Universidade do Minho Escola de Ciências, Portugal
2025/01/09 Gene Therapy: Finding Innovative Approaches to Treat Hemoglobinopathies Sílvia Pires Lourenço (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2024/12/20 Perfil genómico de atletas e ex-atletas de alto rendimento desportivo
(Thesis) Arguer
 Hugo Henrique Santos Silva (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2023/12/23 ANO PROBATÓRIO InPCOS: role of incretin hormones in ovarian function and fertility-related features of polycystic ovary syndrome
(Thesis) Main arguer
 Mafalda do Vale Ribeiro Moreira (Other)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2020 THE PRIMARY GENETIC CAUSE AND BEYOND: LIFETIME RISK AND PHENOTYPE MODIFERS IN HDGC
(Thesis) Arguer
 Ana Rita Barbosa Matos (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2011 Mecanismos mutacionais responsáveis pela dinâmica evolutiva da repetição CAG no gene recetor de androgénio
(Thesis) Main arguer
 João Carlos Ramos de Azevedo Pimenta (Master)
Universidade do Porto Faculdade de Ciencias, Portugal

Association member

Society Organization name Role
2002 - Current A Sociedade Portuguesa de Genética Humana (SPGH) tem como missão a promoção, desenvolvimento e divulgação da investigação e da prática em Genética Humana e, em particular, em Genética Médica. A SPGH procura reunir pessoas que tenham um interesse comum em Genética, congregando esforços para compreender a variação genética humana e para identificar, interpretar, prevenir e tratar as situações clínicas com componente genética.

Committee member

Activity description
Role 		Institution / Organization
2022 - 2024 Associated Laboratory for Integrative and Translational Research in Population (ITR) gathers three R&D units (including UMIB), which embrace the mission to integrate public health research, based on the multidisciplinary and complementary valences of each research unit. ITR is organised into four lines of research, which include 47 laboratories that collaborate with each other for integrated and multidisciplinary research.
Member
 Universidade do Porto Laboratório Associado para a Investigação Integrativa e Translacional em Saúde Populacional, Portugal
2019 - 2021 Management Committee member of the COST Action CA16210 MINDDS - Maximising Impact of research in NeuroDevelopmental DisorderS.
Other

Conference scientific committee

Conference name Conference host
2021 - Current Reunião anual da Sociedade Portuguesa de Genética Humana: SPGH Sociedade Portuguesa de Genética Humana

Consulting

Activity description Institution / Organization
2019 - Current Auditoria a entidades prestadoras de cuidados de saúde Entidade Reguladora da Saúde, Portugal
2019 - Current Equipa de fiscalização/ vistoria da Entidade Reguladora da Saúde Entidade Reguladora da Saúde, Portugal

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2015 - Current Coordenadora, regente do módulo "Translação da medicina genómica para a clínica: o futuro está aqui" e docente do módulo "Análise genómica: do simples ao complexo" Genética Médica e Laboratorial Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Escola Portuguesa de Oncologia do Porto - EPOP, Portugal
2018 - 2018 Noções Básicas de Genética Molecular e Workshop VI - Abordagem molecular Curso de Formação Avançada em Genética Humana e Laboratorial (Pós-Graduação) Escola Portuguesa de Oncologia do Porto - EPOP, Portugal

Evaluation committee

Activity description
Role 		Institution / Organization Funding entity
2021 - Current Comissão de acompanhamento Doutoramento CATARINA ISABEL LOUREIRO MONTEIRO
Evaluator
 Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2013 - Current Comissão de Bolsas e Prémios
Evaluator
 Centro Hospitalar Universitário do Porto EPE, Portugal

Journal scientific committee

Journal title (ISSN) Publisher
2020 - Current BMC Medical Genomics (1755-8794) Springer Nature
2018 - Current Genetic Testing and Molecular Biomarkers (1945-0265) Mary Ann Liebert, INc
2018 - 2020 BMC Medical Genetics (1471-2350) Springer Nature.
Distinctions

Award

2020 Best Poster