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Identification

Personal identification

Full name
Ana Rita Marques Soares

Citation names

  • Soares, Ana Rita

Author identifiers

Ciência ID
0118-1C4F-9502
ORCID iD
0000-0001-7817-9889

Knowledge fields

  • Medical and Health Sciences - Clinical Medicine
  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Medical and Health Sciences - Health Sciences - Medical Ethics
Affiliation

Others

Category
Host institution 		Employer
2017 - 2019 Prestação de Serviços Médicos - Serviço de Urgência Unidade Local de Saúde de Matosinhos EPE, Portugal
Unidade Local de Saúde de Matosinhos EPE, Portugal
Outputs

Publications

Journal article
  1. Soares, Ana Rita; Da Silva, Jorge Diogo; Fortuna, Ana Maria; Tkachenko, Nataliya. "Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions". Genetics in Medicine Open 1 1 (2023): 100781. http://dx.doi.org/10.1016/j.gimo.2023.100781.
    10.1016/j.gimo.2023.100781
  2. Soares, Ana Rita; Carvalho, Ana Sofia. "Bioethics in Genetics: between science and art.". Millenium 2 23 (2023): e32085. https://revistas.rcaap.pt/millenium/article/view/32085.
  3. Jorge Diogo Da Silva; Diana Gonzaga; Ana Barreta; Hildeberto Correia; Ana Maria Fortuna; Ana Rita Soares; Nataliya Tkachenko. "Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication". Biomedicines (2022): https://doi.org/10.3390/biomedicines10123078.
    10.3390/biomedicines10123078
  4. Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; et al. "Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition". Molecular Psychiatry 28 2 (2022): 668-697. http://dx.doi.org/10.1038/s41380-022-01852-9.
    10.1038/s41380-022-01852-9
  5. Santos Monteiro, Sílvia; da Silva Santos, Tiago; Fonseca, Liliana; Assunção, Guilherme; Lopes, Ana M.; Duarte, Diana B.; Soares, Ana Rita; et al. "Maturity-onset diabetes of the young in a large Portuguese cohort". Acta Diabetologica 60 1 (2022): 83-91. http://dx.doi.org/10.1007/s00592-022-01980-2.
    10.1007/s00592-022-01980-2
  6. Sá, Liliana; Rebelo, Ana; Ferreira, Ana B; Soares, Ana Rita; Matos de Figueiredo, Catarina; Monteiro, Virgínia; Monteiro, Joana. "Infantile Macrocephaly and Autism Spectrum Disorder Diagnosed with PTEN Hamartoma Tumor Syndrome: A Case Report". Acta Scientific Paediatrics (2022): 07-10. http://dx.doi.org/10.31080/aspe.2022.05.0528.
    10.31080/aspe.2022.05.0528
  7. 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
  8. Soares, Célia Azevedo; Tkachenko, Natália; Vale-Fernandes, Emídio; Barreiro, Márcia; Abreu, Maria; Reis, Cláudia Falcão; Soares, Gabriela; Fortuna, Ana Maria; Soares, Ana Rita. "Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center". JBRA Assisted Reproduction (2022): http://dx.doi.org/10.5935/1518-0557.20220012.
    10.5935/1518-0557.20220012
  9. Rodrigues, Patrícia; Soares, Ana Rita; Taipa, Ricardo; Ferreira, Sofia; Reis, Hipólito. "Hipertrofia Ventricular Esquerda: Um Fenótipo, Duas Hipóteses, Três Lições". Arquivos Brasileiros de Cardiologia 117 5 (2021): 1056-1059. http://dx.doi.org/10.36660/abc.20210103.
    10.36660/abc.20210103
  10. Rossignol, Francis; Duarte Moreno, Marvid S.; Benoist, Jean-François; Boehm, Manfred; Bourrat, Emmanuelle; Cano, Aline; Chabrol, Brigitte; et al. "Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases". Genetics in Medicine 23 9 (2021): 1604-1615. http://dx.doi.org/10.1038/s41436-021-01200-2.
    10.1038/s41436-021-01200-2
  11. Lorenzo, Joana; Maio, Inês; Soares, Ana Rita; Tavares, Susana; Fortuna, Ana. "More Than Just a Torticollis: A Klippel-Feil Syndrome Case Report". (2021): https://pjp.spp.pt//article/view/19475.
  12. Sara Monteiro Cunha; Daniel Meireles; Catarina Figueiredo; Soares, Ana Rita; Joana Freitas; Maria Joao Oliveira; Borges, Teresa. "Mosaic Trisomy 22 in a 14-Year-Old Adolescent: A Case Report". Port J Pediatr 52 (2021): 127-30.
  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 8 12 (2020): 2476-2482. https://doi.org/10.1002/ccr3.3146.
    10.1002/ccr3.3146
  14. Soares, Ana. "Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene Pleiotropy". European Endocrinology (2020): http://dx.doi.org/10.17925/ee.2020.16.1.66.
    10.17925/ee.2020.16.1.66
  15. Coelho, Margarida Paiva; Soares, Ana Rita; Magalhães, Catarina; Martins, Esmeralda. "Genes, Children and Pediatricians". (2020): http://hdl.handle.net/10400.16/2424.
    10.25753/BirthGrowthMJ.v29.i2.17550
  16. Felix, Joana; Moreira Barros, Joana; Soares, Ana Rita; Soares, Fatima; Nogueira, Rosete; Silva, Pedro Tiago. "Ultrasound relevance in prental diagnosis of VACTERL association - two clinical cases". (2020): https://revistas.rcaap.pt/nascercrescer/article/view/14036.
    10.25753/BirthGrowthMJ.v29.i1.14036
  17. Soares, Ana Rita; Soares, Gabriela; Mota-Freitas, Manuela; Oliva-Teles, Natália; Fortuna, Ana Maria; Soares, Ana. "Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases". Acta Médica Portuguesa (2019): https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/11466.
    10.20344/amp.11466
  18. Soares, Ana Rita; Inocencio, Gonçalo; Rodrigues, Céu; Proença, Elisa; Soares, Gabriela; Fortuna, Ana Maria; Mota, Céu. "X-linked Cornelia de Lange Syndrome - Remembering a dysmorphology case in Neonatology". Journal of Pediatrics and Pediatric Medicine 2 1 (2018): 11-13. http://dx.doi.org/10.29245/2578-2940/2018/1.1115.
    10.29245/2578-2940/2018/1.1115
  19. Soares, Ana Rita; Laranjeira, Francisco; Caseiro, Carla; Ribeiro, Isaura; Silva, Elisabete; Pinto, Eugénia; Ferreira, Célia; et al. "FABRY DISEASE IN PORTUGAL – INSIGHTS FROM THE MALE PATIENTS". (2016): https://revistas.rcaap.pt/nascercrescer/article/view/10519.
    10.25753/BirthGrowthMJ.v25.i0.10519
  20. Soares, Ana. "AZFb microdeletions and oligozoospermia—which mechanisms?". Fertility and Sterility (2012): http://dx.doi.org/10.1016/j.fertnstert.2012.01.099.
    10.1016/j.fertnstert.2012.01.099
Online resource
  1. Jorge Diogo Da Silva; Nataliya Tkachenko; Soares, Ana Rita. Ellis-van Creveld Syndrome. 2023. https://www.ncbi.nlm.nih.gov/books/NBK596643/.
Activities

Ad Hoc journal article review

Journal title (ISSN) Publisher
2021 - 2021 Molecular Genetics & Genomic Medicine
2021 - 2021 Nascer e Crescer / Birth and Growth Medical Journal
Distinctions

Award

2023 Melhor Comunicação Oral - Coautoria
Centro Hospitalar e Universitário de Coimbra EPE, Portugal
2022 Menção Honrosa de Comunicação Oral - Coautoria
Centro Hospitalar Universitário do Porto EPE Centro Materno-Infantil do Norte Dr Albino Aroso, Portugal
2022 Bolsa para apresentação de trabalho selecionado
European Society of Human Genetics, Austria
2022 Bolsa para participação
European Reference Network on Rare Immunological Disorders, Netherlands
2019 Prémio de Investigação Clínica / Clinical Research Award Distinction
2019 Melhor Casuística - Poster - Coautoria
2019 Best Oral Communication - Coautoria
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2018 3rd Prize - Poster
European Society of Human Genetics, Austria
2018 Bolsa para participação
European Society of Human Genetics, Austria
2017 Melhor Poster - Coautoria
Centro Hospitalar Universitário do Porto EPE Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
2016 Bolsa para participação
European Society of Human Genetics, Austria
2016 Bolsa para participação
European Society of Human Genetics, Austria
2016 Bolsa para participação
European Fabry Expert Lounge, Netherlands

Title

2022 Best Article of the Issue - Acta Scientific Paediatrics - Coautoria