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Main achievements
Publications
Scientific interests and ongoing research projects
Team

Human Genome Variation in Health and Disease Group

Main achievements

1. OMIC signatures of biomarkers of diagnosis, prognosis, treatment and relapses.

2. Array-CGH in the identification of biomarkers, gene signatures and genomic models in various cancers (oral carcinoma, cholangiocarcinoma, pediatric leukemia, glioblastoma, skin, colorectal, ovarian) and in patients with developmental disorders.

3. Liquid biopsies for the diagnosis and follow-up of cancer patients.

4. NGS for the identification of mutation status in different pathologies, correlation genothype- phenotype and delineation of clinical strategies.

5. NGS for non-invasive prenatal testing.

Publications

Calado R, Soares JN, Moreira S, Cardoso JC, Coutinho I. Beyond the typical signs: dermatomyositis in a different tone. Rheumatology (Oxford). 2022 Oct 6;61(10):e325. doi: 10.1093/rheumatology/keac164. IF: 7.046. Q1 Categoria: Rheumatology

Couto Oliveira A, Ribeiro IP, Pires LM, Gonçalves AC, Paiva A, Geraldes C, Roque A, Sarmento-Ribeiro AB, Barbosa de Melo J, Carreira IM. Genomic characterisation of multiple myeloma: study of a Portuguese cohort. J Clin Pathol. 2022; 75(6):422-425. doi: 10.1136/jclinpath-2020-207204. IF: 4.467. Q2: Categoria: Pathology

Gante I, Ribeiro JM, Mendes J, Gomes A, Almeida V, Regateiro FS, Caramelo F, Silva HC, Figueiredo-Dias M. One Step Nucleic Acid Amplification (OSNA) Lysate Samples Are Suitable to Establish a Transcriptional Metastatic Signature in Patients with Early Stage Hormone Receptors-Positive Breast Cancer. Cancers (Basel). 2022 Nov 28;14(23):5855. doi: 10.3390/cancers14235855. IF: 6.575. Q1 Categoria: Oncology

Marques JP, Pinheiro R, Carvalho AL, Raimundo M, Soares M, Melo P, Murta J, Saraiva J, Silva R. Genetic spectrum, retinal phenotype, and peripapillary RNFL thickness in RPGR heterozygotes. Graefes Arch Clin Exp Ophthalmol. 2022 Sep 2. doi: 10.1007/s00417-022-05809-0. IF: 5.152. Q2: Categoria: Neurosciences

Ribeiro IP, Esteves L, Caramelo F, Carreira IM, Melo JB. Integrated Multi-Omics Signature Predicts Survival in Head and Neck Cancer. Cells. 2022;11(16):2536. doi: 10.3390/cells11162536. IF: 7.666. Q2 Categoria: Cell Biology

Tavares I, Martins R, Ribeiro IP, Esteves L, Caramelo F, Abrantes AM, Neves R, Caetano-Oliveira R, Botelho MF, Barbosa de Melo J, Diogo D, Tralhão JG, Carreira IM. Development of a genomic predictive model for cholangiocarcinoma using copy number alteration data. J Clin Pathol. 2022; 75(4):274-278. doi: 10.1136/jclinpath-2020-207346. IF: 4.467. Q2: Categoria: Pathology

Cardoso JC, Ribeiro IP, Caramelo F, Tellechea O, Melo JB, Marques Carreira I. Basal cell carcinomas of the scalp after radiotherapy for tinea capitis in childhood: A genetic and epigenetic study with comparison with basal cell carcinomas evolving in chronically sun-exposed areas. Exp Dermatol. 2021. 30(8):1126-1134. doi: 10.1111/exd.14237. IF: 3.960. Q1 Categoria: Dermatology, Q2 Categoria: Biochemistry, Molecular Biology

Dias HC, Manco L, Corte-Real F, Cunha E. A Blood-Bone-Tooth Model for Age Prediction in Forensic Contexts. Biology (Basel). 2021. 10;10(12):1312. doi: 10.3390/biology10121312. IF:5.079. Q1 Categoria: Biology

Jesus-Ribeiro J, Pires LM, Melo JD, Ribeiro IP, Rebelo O, Sales F, Freire A, Melo JB. Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review. Front Neurosci. 2021. 22;14:580357. doi: 10.3389/fnins.2020.580357. IF: 4.677. Q2 Categoria: Neuroscience

Martins I, Ribeiro IP, Jorge J, Gonçalves AC, Sarmento-Ribeiro AB, Barbosa Melo J, Carreira IM. Liquid Biopsies: Applications for Cancer Diagnosis and Monitoring. Genes (Basel). 2021. 12(3):349. doi: 10.3390/genes12030349. IF: 4.096. Q2 Categoria: Genetics; Genetics (clinical)

Ribeiro IP, Esteves L, Santos A, Barroso L, Marques F, Caramelo F, Melo JB, Carreira IM. A seven-gene signature to predict the prognosis of oral squamous cell carcinoma. Oncogene. 2021.40(22):3859-3869. doi: 10.1038/s41388-021-01806-5. IF: 9.867. Q1 Categoria: Genetics, Cancer Research, Molecular Biology

Cardoso JC, Ribeiro IP, Caramelo F, Tellechea O, de Melo JB, Carreira IM. Basal cell carcinomas of the scalp after radiotherapy for tinea capitis in childhood: a genetic and epigenetic study with comparison with basal cell carcinomas evolving in chronically sun-exposed areas. Exp Dermatol. 2020. doi: 10.1111/exd.14237. IF: 3.368. Q1 Categoria: Dermatology, Biochemistry; Q2 Categoria: Molecular Biology

Esteves L, Caramelo F, Ribeiro IP, Carreira IM, de Melo JB. Probability distribution of copy number alterations along the genome: an algorithm to distinguish different tumour profiles. Sci Rep. 2020.10;10(1):14868. doi: 10.1038/s41598-020-71859-1. IF: 3.998. Q1 Categoria: Multidisciplinary

Ferreira SI, Cinnirella G, Ramos L, Suppa A, Pires LM, Nardone AM, Camerota L, Lanciotti S, Galasso C, Maio FD, Melo JB, Carreira IM, Brancati F. Tremor is a major feature of 9p13 deletion syndrome. Am J Med Genet A. 2020. 182(11):2694-2698. doi: 10.1002/ajmg.a.61807. IF: 2.125. Q2 Categoria: Genetics

Marques JP, Carvalho AL, Henriques J, Murta JN, Saraiva J, Silva R. Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT. Orphanet J Rare Dis. 2020. 15:304-316. doi:org/10.1186/s13023-020-01591-6. IF: 3.687. Q1 Categoria: Medicine (miscellaneous), Pharmacology (medical), Q2 Categoria: Genetics (clinical)

Ribeiro IP, Caramelo F, Ribeiro M, Machado A, Miguéis J, Marques F, Carreira IM, Melo JB. Upper aerodigestive tract carcinoma: Development of a (epi)genomic predictive model for recurrence and metastasis. Oncol Lett. 2020.19(5):3459-3468. doi: 10.3892/ol.2020.11459. IF: 1.871. Q3 Categoria: Cancer Research and Oncology

Ribeiro IP, Esteves L, Anjo SI, Marques F, Barroso L, Manadas B, Carreira IM, Melo JB. Proteomics- based predictive model for the early detection of metastasis and recurrence in head and neck cancer. Cancer Genomics & Proteomics. 2020. 17: 259-269. doi:10.21873/cgp.20186. IF: 3.28. Q1 Categoria: Medicine: Q2 Categoria: Genetics, Biochemistry; Cancer Research, Molecular Biology

Ribeiro IP, Carreira IM, Esteves L, Caramelo F, Liehr T, Melo JB. Chromosomal breakpoints in a cohort of head and neck squamous cell carcinoma patients. Genomics. 2020 Jan;112(1):297-303. doi.org/10.1016/j.ygeno.2019.02.009. IF: 3.16. Q2 Categoria: Genetics

Ribeiro IP, Melo JB, Carreira IM. Cytogenetics and Cytogenomics Evaluation in Cancer. Int. J. Mol. Sci. 2019, 20(19), 4711. 13 páginas. doi.org/10.3390/ijms20194711. IF: 4.183. Q1 Categoria: (Medicine)

Rodrigues CFD, Serrano E, Patrício MI, Val MM, Albuquerque P, Fonseca J, Gomes CMF, Abrunhosa AJ, Paiva A, Carvalho L, Botelho MF, Almeida L, Carreira IM, Alpoim MC. Stroma-derived IL-6, G-CSF and Activin-A mediated dedifferentiation of lung carcinoma cells into cancer stem cells. Scientific Reports.2018. 8 (1), 11573. doi: 10.1038/s41598-018-29947-w. IF: 4.122; Q1 Categoria: Multidisciplinary

Scientific interests and ongoing research projects

1. Glioblastoma Multiforme: Dynamic Changes Characterization in Circulating Tumor DNA During Chemo-Radiotherapy.

2. Oral cancer: liquid biopsies in the diagnosis and monitoring of patients.

3. Evaluation of the degree of regression in rectal cancer: comparison between magnetic resonance imaging and histopathology.

4. Oral Cancer Understanding intra-tumor heterogeneity to identify prognosis biomarkers.

5. Cytogenomic Characterization of Monoclonal Gammopathy Patients

Team

Group Leader

Isabel Marques Carreira

PhD Members

Eunice Matoso

Francisco Caramelo

Francisco Corte-Real, MD

Henriqueta Breda, MD

Ilda Ribeiro

Isabel Marques Carreira

Isabel Poiares Batista, DMD

Joana Barbosa de Melo

João Miguel Marques dos Santos, DMD

Jorge M Saraiva, MD

Maria José Julião, MD

PhD Students

Ana Luísa Carvalho, MD

Ana Oliveira, MD

André Lázaro, MD

Daniela Santos Silva, DMD

Domingos Roda, MD

Fernanda Santos, MD

Filipe Mira, MD

Francisco Marques, MD

José Carlos Cardoso, MD

Joana Ribeiro, MD

Leonor Barroso, MD

Ricardo Roque, MD

Sheila Martins, MD

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